Gastroenterology Gastroenterology 1) The following suggest bacterial rather than viral gastroenteritis: A Visible blood mixed with faeces true B Febrile seizure true C Diarrhoeal frequency of >5 stools per day false D Full blood count showing: Hb 5.2 g/l. WCC 14.5 platelets 102 x10
9/l
true E Pulse rate of 80/ min in a child of 2 years true Comments: Aetiologic diagnosis on the basis of the clinical picture is not always possible. Epidemiolgical data may be helpful, as may blood and pus in the stool (suggesting bacterial dysentery). Shigella infection is associated with febrile convulsion, E. Coli 0107:H7 0107:H7 with with HUS, and typhoid fever with fever with relative relative bradycardia. bradycardia. If abdominal abdominal pain and tenderness are severe, appedicitis, perforated viscus, and ulcerative colitis merit consideration in the differential diagnosis. 2) In cystic fibrosis: A Gastro-oesopha Gastro-oesophageal geal reflux (GOR) can be an associate associatedd feature. feature. true B Intestinal Intestinal malabsorbtio malabsorbtionn is mainly due to abnormal abnormal intestinal intestinal epithelium. epithelium. false C Constip Constipatio ationn can can be a complica complication tion.. true D Rectal Rectal prola prolapse pse is a known known assoc associati iation. on. true E Delta Delta F508 F508 mutatio mutationn is the the most most common common dele deletion tion.. true -------------------------------------------------------------------------------Comments:
GOR can result from lung hyperinflation increasing intra-thoracic pressure. Recurrent aspiration should also be considered in children with recurrent chest problems. Malabsorbtion is secondary to pancreatic insufficiency. Children with cystic fibrosis have a high incidence of appendicitis but also have a high incidence of intussusception, constipation (±rectal prolapse), and meconium ileus equivalent. CF is inherited as an autosomal recessive trait. trait . With the cloning of the CF gene, it is clear that all of the more than 400 gene mutations that contribute to the CF syndrome occur at a single locus on the long arm of chromosome 7. 7 . The The CF gen genee codes for a protein of 1480 amino acids, called the CF transmembrane regulator (CFTR). (CFTR ). CFTR is expressed largely in epithelial cells of airways, the gastrointestinal tract (including pancreas and biliary system), the sweat glands, and the genitourinary system. CFTR has ion channel and regulatory functions that are perturbed to some extent by the different mutations. The most prevalent mutation of CFTR, occurring in approximately 70% of affected whites, is the deletion of a single phenylalanine residue at amino acid 508 (deltaF508). 3)Familial hepatic diseases associated with cirrhosis include:
A Gala Galact ctos osaaemia emia
B Osler Osler-We -Webe ber-R r-Ren endu du synd syndro rome me (False (False)) C Cyst Cystin inoosis sis (Fals (Fa lse) e) D Marf Marfan an's 's synd syndro rome me (Fal (False se)) E Wils Wilson on's 's dise diseas asee (Tru (True) e) Comments: Familial hepatic diseases associated with cirrhosis include: 1. Wilson's disease 2. Haemochromatosis 3. Galactosaemia 4. Indian familial childhood cirrhosis 5. Alpha1 antitrypsin deficiency Osler-weber-rendu is associated with hereditary telangiectasia and may be associated with large GI haemorrhage. Marfan's is not really associated with any hepatic disease. Cystinosis is a rare disease causing the accumulation of the amino acid, cystine. Although cystine accumulates in the liver it does not cause cirrhosis. Cystinosis is associated with: a) Renal failure b) muscle wasting c) diabetes d) hypothyroidism. 4) Campylobacter jejuni: A Attack rates are highest in the elderly
GOR can result from lung hyperinflation increasing intra-thoracic pressure. Recurrent aspiration should also be considered in children with recurrent chest problems. Malabsorbtion is secondary to pancreatic insufficiency. Children with cystic fibrosis have a high incidence of appendicitis but also have a high incidence of intussusception, constipation (±rectal prolapse), and meconium ileus equivalent. CF is inherited as an autosomal recessive trait. trait . With the cloning of the CF gene, it is clear that all of the more than 400 gene mutations that contribute to the CF syndrome occur at a single locus on the long arm of chromosome 7. 7 . The The CF gen genee codes for a protein of 1480 amino acids, called the CF transmembrane regulator (CFTR). (CFTR ). CFTR is expressed largely in epithelial cells of airways, the gastrointestinal tract (including pancreas and biliary system), the sweat glands, and the genitourinary system. CFTR has ion channel and regulatory functions that are perturbed to some extent by the different mutations. The most prevalent mutation of CFTR, occurring in approximately 70% of affected whites, is the deletion of a single phenylalanine residue at amino acid 508 (deltaF508). 3)Familial hepatic diseases associated with cirrhosis include:
A Gala Galact ctos osaaemia emia
B Osler Osler-We -Webe ber-R r-Ren endu du synd syndro rome me (False (False)) C Cyst Cystin inoosis sis (Fals (Fa lse) e) D Marf Marfan an's 's synd syndro rome me (Fal (False se)) E Wils Wilson on's 's dise diseas asee (Tru (True) e) Comments: Familial hepatic diseases associated with cirrhosis include: 1. Wilson's disease 2. Haemochromatosis 3. Galactosaemia 4. Indian familial childhood cirrhosis 5. Alpha1 antitrypsin deficiency Osler-weber-rendu is associated with hereditary telangiectasia and may be associated with large GI haemorrhage. Marfan's is not really associated with any hepatic disease. Cystinosis is a rare disease causing the accumulation of the amino acid, cystine. Although cystine accumulates in the liver it does not cause cirrhosis. Cystinosis is associated with: a) Renal failure b) muscle wasting c) diabetes d) hypothyroidism. 4) Campylobacter jejuni: A Attack rates are highest in the elderly
(False) B Infections are treated with ciprofloxacin (True) C Is a recognized pathogen in domestic animals (True) D Is readily isolated in stool culture (False) E Causes colitis (True) Comments: A- Young adults and children. B- Cipro and Erythromycin, but most are self-limiting. C- Transmitted to humans by milk or water infected by wild and domestic animals and poultry. D- Requires special conditions: 42 °C, micraerobic atmosphere on blood agar with antimicrobials added. E- Proctocolitis and enterocolitis may be due to sexually transmitted agents such as Campylobacter , Shigella, Shigella, Entamoeba and Giardia and may be clinically indistinguishable from non-infective causes. 5)Techniques are available for the ante-natal diagnosis of: A Tay-Sach's disease (True) B Down's dyndrome (True) C Haemophilia (False) D Phenylketonuria (False) E Spina bifida cystica (True) Comments: Antenatal screening may be undertaken through many techniques such as bloods, ultrasound or amniocentesis. Disorders that may be screened for include: A- Tay Sach's (amnio) B- Chromosomal abnormalities such as Down's (amnio and USS) C- Spina bifida (bloods and USS) With advanced genetic screening being available disorders such as Congenital adrenal hyperplasia, sickle cell disease and Cystic fibrosis may also be screened. 6) The following cause the onset of persistent vomiting in a 3 week old child: A Disaccharidase intolerance.
(False)
B Duodenal atresia. (False) C Pyloric stenosis. (True) D Hiatus hernia. (True) E Choledochal cyst. (False) Comments: Vomiting is a relatively frequent symptom during the neonatal period. In the majority of instances it is simply regurgitation from overfeeding or from failure to permit the infant to eructate swallowed air. When vomiting occurs shortly after birth and is persistent, persistent , the possibilities possibilities of intestinal intestinal obstruction obstruction and increased increased intracrani intracranial al pressure pressure must be considered. considered. A history of maternal hydramnios hydramnios suggests upper upper gastrointestinal (oesophageal, duodenal, ileal) atresia. Bile-stained emesis suggests intestinal obstruction beyond the duodenum, but it may also be idiopathic. Abdominal roentgenograms (kidney-ureter-bladder [KUB] and cross-table lateral views) should be performed in neonates with persistent emesis and in all infants with bile-stained emesis to detect air-fluid levels, levels , distended distended bowel bowel loops, characteristic patterns of obstruction (double bubble: duodenal atresia ), and pneumoperitoneum (intestinal perforation). A barium swallow roentgenogram with small bowel follow-through is indicated in the presence of bilious emesis. Obstructive lesions of the digestive tract occur most frequently in the oesophagus and intestines. intestines. Vomiting from oesophag oesophageal eal obstruction obstruction occurs with the first feeding. feeding. The diagnosis of oesophageal atresia can be suspected if there is unusual drooling from the mouth and if resistance is encountered in the attempt to pass a catheter into the stomach. Diagnosis should be made before the infant chokes on oral feedings and risks aspiration pneumonia. Infantile achalasia (cardiospasm), (cardiospasm ), a rare cause of vomiting in the newborn infant, is demonstrable roentgenographically by obstruction at the cardiac end of the oesophagus, without organic stenosis. Regurgitation of feedings due to continuous relaxation of the oesophageal-gastric sphincter, chalasia, is a cause of vomiting, which can be controlled by keeping the infant in a semi-upright position. Vomiting due to obstruction of the small intestine usually begins on the 1st day of life and is frequent, persistent, usually nonprojectile, copious, and, unless the obstruction is above the ampulla of Vater, bile-stained; it is associated with abdominal distension, visible deep peristaltic waves, and reduced or absent bowel movements. Malrotation with obstruction from midgut volvulus is an acute emergency that must be considered. Upright roentgenographic films of the abdomen will show the distribution of air in the intestine and often aid in locating the site of the obstruction; malrotation may be identified by contrast studies. Normally, air can be demonstrated roentgenogra roentgenographically phically in the jejunum by 10-60 min, in the ileum by 2-3 hr, and in the colon by 3 hr after birth. Absence of rectal gas at 24 hr is abnormal. Persistent vomiting may occur with congenital hernia of the diaphragm . The vomit vomiting ing of
pyloric stenosis may bany time after birth but does not assume its characteristic pattern before the 2nd-3rd wk. 7) The following can give a positive result with clinitest tablets: A Nalidixic acid
(True)
B Lactose
(True)
C Fructose
(True)
D Sucrose
(False)
E
Ascorbic acid
Comments: Clinitest tablets are positive with reducing sugars. These include glucose, lactose, fructose, and maltose. Sucrose is not a reducing sugar. Clinitest tablets also give false positives with a number of drugs including ascorbic acid and nalidixic acid. In a child who has a positive clinitest tablet result, with a negative clinistix tablet result (the latter being specific for glucose) , then the likeliest diagnosis is galactosaemia. This is often used in screening for prolonged jaundice.
8) Which of the following is/are correct regarding Peutz Jeghers syndrome? A It is inherited as an autosomal recessive condition (False) B Is associated with a low risk of malignant transformation (True) C It is associated with the presence of pigmented lesions are seen in the axilla (False) D It is associated with adenomatous polyps of the small intestine (False) E Often presents in childhood with iron defiency anaemia (True) -------------------------------------------------------------------------------Comments: Peutz Jegher's syndrome is inherited as an autosomal dominant condition. As a result, children with one affected (heterozygotic) parent have a 50% chance of developing the condition. The circumoral pigmented lesions are a characteristic feature of this condition The small intestinal polyps are hamartomas and not
(True)
adenomas. Recent data suggest that Peutz Jegher's syndrome is premalignant condition but the risk is low. It can present as anaemia in childhood. The anaemia is a hypochromic microcytic anaemia resulting from iron deficiency 9) Infants and children are more vulnerable to under-nutrition than adults because: A The pre-term infant contains a lower percentage of water. (False) B The adult contains a higher percentage of carbohydrate. (False) C At birth the brain accounts for approximately 2 thirds of basal metabolic rate. (True) D At 4 months of age 30% of the infants energy intake is used for growth. (True) E A malnourished infant may not show catch-up growth unless the energy intake is >100kcal/kg/day. (True) Comments: Infants and children are more vulnerable to undernutrition for 3 major reasons: 1. Low nutritional stores, with newborns having poor stores particularly of fat and protein. A growth retarded child will be worse off. Compared with an adult, the newborn contains a higher percentage of body water, and a similar percentage of carbohydrate. 2. High nutritional demands for growth: at 4 months of age 30% of energy intake is used for growth, falling to 5% at a year and 2% at 3 years. 3. Rapid neuronal growth: 2 thirds of BMR are due to the brain at birth, and 50% at 1 year. Protein energy malnutrition due to an adequate food intake results in delayed development, though inadequate psychosocial stimulation may contribute. During acute illness or surgery energy requirements may be massively increased. 10) Concerning iron: A Iron absorption is mainly in the distal jejunum. (False) B Parenteral iron is indicated if the haemoglobin level is not raised within 3 days by oral iron. (False) C Sustained release preparations are useful if larger doses are required. (False)
D 200mg iron sulphate has more elemental iron than an equal dose of iron gluconate. (True) E Absorption is prevented by ascorbic acid. (False) Comments: Iron Important for the structure of haemoglobin and myoglobin for O 2 and CO2 transport; oxidative enzymes; cytochrome C and catalase. Absorbed in ferrous form in small bowel according to body need, aided K by gastric juice and ascorbic acid; hindered L by fibre, phytic acid and steatorrhoea. Transported in plasma in ferric state bound to transferrin; stored in liver, spleen, bone marrow and kidney as ferritin and haemosiderin; conserved and reused; minimal losses in urine and sweat; about 90% of intake excreted in stool. Ferrous sulphate contains about twice the amount of elemental iron as the gluconate. Levels raise Hb levels about 0.5g/100ml per week. Sustained release preparations should not be used, as they delay release beyond the early small bowel, where most iron absorption occurs.
11) A reduced red cell folate may be found:
A In coeliac disease (gluten enteropathy). (True) B After resection of the terminal ileum. (False) C After 2 weeks of a low folate diet. (False) D After long-term treatment with Sodium Valproate. (True) E Where there is a deficiency of B12. (False) -------------------------------------------------------------------------------Comments: There is increased absorption of pteroyl-monoglutamates compared with pteroyl polyglutamase (specific hydrolase). Folate is absorbed throughout the small intestine, binding to specific receptor proteins. Surgical removal of the small bowel.
Any diffuse inflammatory or degenerative disease of small intestine may reduce PPGH activity and reduce folate absorption, e.g. coeliac, chronic enteritis, enteroenteric fistulae. Carbamazepine, Valproate, Phenytoin, - folate supplements are required to prevent neural tube defects in off-spring of epileptic mothers. In infantile gastroenteritis: A The main aetiological agent is a virus (True) B Treatment should include Ampicillin (False) C Upper respiratory infection can be an associated feature (True) D It can cause anaemia in small babies (False) E It can cause lactose malabsorption (True) Comments: The common aetiological agents include viruses such as Rotavirus, Adenovirus and Norwalk virus. Antibiotics are not of value as the majority of cases are viral. Upper respiratory tract infection may be a result of the systemic viral infection. Anaemia is not a feature. Transient disaccharide malabsorption commonly develops following infectious diarrhoea due to a reduction in lactase levels in the gut.
Infantile gastroenteritis: A Is commoner in bottle-fed babies than breast fed babies (True) B Is frequently due to Rota virus (True) C May be complicated by subsequent disaccharide intolerance (True) D Should be treated by oral, poorly absorbed, antibiotics (False) E Is associated with pathogenic E coli in the majority of cases (False) Comments:
Breast feeding is protective against this conditon.30-40% of cases are due`to the Rota virus. The intestinal mucosa may be sufficiently damaged to reduce`the quantity of the ‘lactase’ enzyme which leads to subsequent lactose intolerance. Oral antibiotics are of no benefit as the majority of cases are viral and the diarrhoea may be prolonged by their use. The following are known variations of ano-rectal malformations:
A B C D E
Perineal fistula Duplex ureter Ectopic ureter Vestibular fistula Persistent cloaca
(True) (False) (False) (True) (True)
Comments: Males can have: a) Perineal fistula. b) Recto-urethral fistula. c) Recto-vesicle fistula. d) Imperforate anus without fistula. e) Rectal atresia. Females can have: a) Perineal fistula. b) Vestibular fistula. c) Persistent cloaca. d) Imperforate anus without fistula. e) Rectal atresia. Perineal fistulae can be dealt with no colostomy, but all other types will require a temporary colostomy at least. Copyright © 2002 Dr Colin Melville
Recognised causes of a flattened small bowel mucosa include: A Crohn's disease (False) B Autoimmuneenteropathy (True) C Milk protein intolerance (True) D Transient gluten enteropathy (True) E Giardiasis (True) Comments:
The diffuse lesion of the upper small intestinal mucosa that characterises coeliac disease is seen in a peroral suction biopsy specimen. Short, flat villi, deepened crypts, and irregular vacuolated surface epithelium with lymphocytes in the epithelial layer are seen by light microscopy. Similar abnormalities occur in other conditions but none is likely to be confused with coeliac disease. Infections such as rotavirus enteritis, Giardia lamblia, or tropical sprue can cause villus flattening and elongated crypts but not the marked abnormalities of enterocytes. A flat mucosa occurs in kwashiorkor but may represent a response to infestation rather than to undernutrition. Tropical sprue, a poorly understood tropical enteropathy, can cause a lesion that is indistinguishable from that of coeliac disease. Some cases of cow's milk protein or soy protein intolerance are associated with lesions similar to those of coeliac disease in children. In immune deficiency and eosinophilic gastroenteritis, villi can be partially shortened. Infants with familial enteropathy have short villi, but the crypt dimensions are normal. Autoimmune enteropathy is a poorly characterised syndrome of chronic diarrhoea and malabsorption. If symptoms initially develop after the first 6 months of life, the disorder is likely to be mistaken for gluten-sensitive enteropathy. Typically, the lack of response to a gluten-free diet leads to further evaluation. Histology findings in the small bowel include total villus atrophy, crypt hyperplasia, and an increase in chronic inflammatory cells in the lamina propria. Specific serum antienterocyte antibodies may be identified with indirect immunofluorescent staining using normal small-bowel mucosa and the kidney. The colon can also be involved. Extraintestinal autoimmune disorders are usual and include arthritis, membranous glomerulonephritis, thrombocytopenia, and haemolytic anaemia. Treatment has included prednisone, azathioprine, cyclophosphamide (Cytoxan), and cyclosporine. Copyright © 2002 Dr Colin Melville Recognised features of congenital pyloric stenosis include: A Familial tendency (True) B Lump in the abdomen (True) C Alkaline urine (True) D Increased incidence in boys (True) E Dehydration (True) Comments:
Hypertrophic pyloric stenosis occurs in approximately 3:1,000 live births. Males (especially first born) are affected approximately four times as often as females. Family clustering occurs. Pyloric stenosis is associated with other congenital defects including tracheoesophageal fistula. The vomiting usually starts after 3 wk of age, but symptoms may develop as early as the 1st wk of life and as late as the 5th months. Nonbilious vomiting is the initial symptom, which progressively becomes more vigorous. As vomiting continues, there is a progressive loss of fluid, hydrogen ion, and chloride, leading to a hypochloraemic metabolic alkalosis. The diagnosis is established by palpating the pyloric mass. The mass is firm, movable, approximately 2 cm in length, olive shaped, hard, best palpated from the left side, and located above and to the right of the umbilicus in the midepigastrium beneath the liver edge. Imaging procedures (USS or Barium meal) are reserved for those infants in whom the diagnosis remains in doubt. Gastrin:
A Stimulates gastric acid secretion in response to meals (True) B Stimulates the growth of cells in the gastric mucosa (True) C Is predominantly produced by G cells located in the pancreas (False) D Levels are decreased in atrophic gastritis (Pernicious anaemia) (False) E Stimulates insulin secretion particularly after a carbohydrate meal (False) -------------------------------------------------------------------------------Comments: Gastrin has a variety of actions, but its principal physiological actions are stimulation of gastric acid and pepsin secretion and stimulation of the growth of the mucosa of the stomach and intestine. Gastrin is normally mainly produced in the G cells in the gastric antrum, and is also produced in the duodenum. Gastrin is produced in the foetal pancreas and in adults with pancreatic gastrin secreting tumours(gastrinomas). Levels are increased in conditions of low acid production eg atrophic gastritis and PPI therapy due to loss of negative feedback. Gastrin levels only reach high enough levels following a protein meal to stimulate Insulin secretion. Infants with gastroenteritis:
A Should be given a broad-spectrum antibiotic (False) B May have bloody stools (True) C Usually yield a pathogenic E coli in their stools (False) D Always show hyponatraemia when severely dehydrated (False) E Do not show signs of dehydration until more than 5% of the body weight is depleted (True) Comments: Antibiotics are of little value as the condition is commonly caused by viruses. Haemorrhagic colitis may develop following E.Coli O157:H7 infections. The commonest cause is Rota virus. If severely dehydrated hypernatraemia may also develop if there has been disproportionate water loss. Clinical signs of dehydration are generally absent unless body weight has reduced by >5%, but they are not always present either, hence history is important. The following are absolute contraindications to breast feeding in the U.K.:
A A previous sibling with secondary lactose intolerance. (False) B A maternal complete opposition to even contemplating breast feeding. (False) C Maternal AIDS. (True) D Previous haemolytic disease of the newborn in a sibling. (False) E Eczema in the family. (False) -------------------------------------------------------------------------------Comments: For the average, healthy, full-term infant there are no disadvantages to breastfeeding, provided that the mother's milk supply is ample and that her diet contains sufficient amounts of protein and vitamins. Infrequently, allergens to which the infant is sensitised may be conveyed in the milk. In such cases, an attempt should be
made to find the specific allergen and to remove it from the mother's diet; its presence rarely is a valid reason for weaning the baby. From the mother's standpoint, there are few contraindications to breast-feeding. Markedly inverted nipples may be troublesome. Fissuring or cracking of the nipples can usually be avoided if engorgement is prevented. Mastitis may be alleviated by continued and frequent nursing on the affected breast to keep it from becoming engorged, by local heat applications, and by antibiotics. Acute infection in the mother may contraindicate breast-feeding if the infant does not have the same infection; otherwise, there is no need to stop nursing unless the condition of either necessitates it. When the infant is unaffected and the mother's condition permits, the breast may be emptied and the milk given to the infant. HIV, septicaemia, nephritis, eclampsia, profuse haemorrhage, active tuberculosis, typhoid fever, breast cancer, and malaria are contraindications to nursing, as are chronic poor nutrition, substance abuse, debility, severe neuroses, and postpartum psychoses. The transmission rate of HIV from mother to child increases by 50% in the breast fed infant. Copyright © 2002 Dr Colin Melville Gluten enteropathy: A may present with haemorrhage (True) B after commencing a gluten free diet will respond completely within one month (False) C is associated with pigmentation of the skin (False) D may be associated with megaloblastic anaemia because of depressed vitamin B12 absorption from the jejunum (False) E may cause bone pain (True) Comments: 1. the mechanism being decreased vitamin K absorption due to malabsorption 2. will respond but not completely within one month 4. Vitamin B12 is absorbed from the terminal ileum 5. Malabsorption cauosteomalacia which can cause bone pain In Hirschprung's disease:
A Abdominal distension in the newborn period may be the (True) presenting feature. B Diagnosis can be by rectal examination. (True) C The affected segment is grossly dilated on barium enema. (False) D There is a male:female ratio of 4:1. (True) E The right side of the colon is most commonly affected. (False) Comments: Hirschsprung's disease or congenital aganglionic megacolon is caused by an abnormal innervation of the bowel, beginning in the internal anal sphincter and extending proximally to involve a variable length of gut. Hirschsprung's disease is the most common cause of lower intestinal obstruction in the neonate, with an overall incidence of 1:5,000 live births. Males are affected more often than females (4:1), and there is an increased familial incidence in long segment disease. Hirschsprung's disease may be associated with other congenital defects including Down, Laurence-Moon-Bardet-Biedl, and Waardenburg syndromes and cardiovascular abnormalities. Ninety-nine per cent of full-term infants pass meconium within 48 hr of birth. Hirschsprung's disease should be suspected in any full-term infant (the disease is unusual in preterm infants) with delayed passage of stool. Failure to pass stool leads to dilatation of the proximal bowel and abdominal distension. As the bowel dilates, intraluminal pressure increases, resulting in decreased blood flow and a deterioration of the mucosal barrier. Stasis allows proliferation of bacteria, which may lead to enterocolitis with associated sepsis and signs of bowel obstruction. Rectal examination demonstrates normal anal tone and is usually followed by an explosive discharge of foul-smelling faeces and gas. Copyright © 2002 Dr Colin Melville The following may be found in a patient with untreated coeliac disease:-
A increased serum ferritin B osteomalacia C 30% of cases associated with anti double stranded DNA antibodies D mouth ulcers E anti-endomysial antibodies Comments:
(False) (True) (False) (True) (True)
a-Usually present with iron deficiency. b-From poor calcium absorption. c-No relation to SLE. d-Crohns and Coeliac are causes of mouth ulcers (Alison Robertson, BDS). e-A very specific test. The following are recognised associations of maternal diabetes: A Sacral agenesis (True) B Intrauterine growth retardation (True) C Macrosomia (True) D Hyaline membrane disease (True) E Hypertrophic cardiomyopathy (True) Comments: Overall, malformations occur in 6%, with an increased incidence of cardiac malformations, sacral agenesis, hyperplastic left colon. Intrauterine growth retardation is 3 times as common due to small vessel disease in the mother. More common is macrosomia, and this is related to the degree of maternal hyperglycaemia. The glucose crosses the placenta while the insulin does not, so the fetus increases its production of insulin. This results in increased cell number and size. 25% of IDM are greater than 4kg compared with only 8% of non-diabetics. This gives problems with delivery such as CPD, shoulder dystosia resulting in an increased incidence of birth asphyxia and trauma. In the neonatal period, hypoglycaemia, respiratory distress and reversible hypotrophic cardiomyopathy and polychthaemia are all more common. Gestational diabetes is when carbohydrate intolerance occurs only during pregnancy. It is commonest in obese women and those from Afro-Caribbean and Asian ethnic groups. In these women there is no increase in congenital malformations, though macrosomia and other complications remain similar in frequency. Copyright © 2002 Dr Colin Melville
In cirrhosis with portal hypertension, the following may occur:
A
Acute upper gastrointestinal bleeding
(True)
B C D E
A positive puddle sign Bacterial peritonitis Irritability and sleepiness Renal tubular acidosis
(True) (True) (True) (True)
Comments: Cirrhosis is a final common pathway for many forms of liver disease. Pathologically, there is extensive fibrosis with regenerative nodules. This results in decreased hepatic function and portal hypertension, with splenomegaly, varices and ascites. There is an increased risk of hepatocellular carcinoma. If compensated, cirrhosis may be asymptomatic. As the cirrhosis increases, malnutrition, abdominal distension from hepatosplenomegaly and ascites, scrotal swelling, and dilated abdominal veins occur (caput medusae). The oesophageal varices can bleed requiring transfusion, vasopressin analogue, sclerotherapy or endoscopic injection. Portocable shunts may preclude liver transplantation. Ascites can result in shifting dullness and a positive puddle sign. Albumin transfusion, paracentesis or peritoneo-venous shunts may be required. There is an increased incidence of spontaneous bacterial peritonitis. Encephalopathy may be precipitated by gastrointestinal haemorrhage, sepsis, sedatives, renal failure, or electrolyte imbalance. Children become irritable and sleepy with changes in mood and intellectual performance. The plasma ammonia may be elevated and the EEG is abnormal. Renal failure may be secondary to renal tubular acidosis, acute tubular necrosis or functional renal failure. Copyright © 2002 Dr Colin Melville Gilbert's syndrome: A the serum alkaline phosphate concentration is typically raised above normal (False) B characteristically the level of icterus is variable (True) C the liver typically show no histological abnormality (True) D the urine typically shows excess urobilinogen (False) E there is typically familial distribution (True) Comments: Gilbert's syndrome is associated with an isolated elevation of unconjugated bilirubin, due to mild deficiency of glucoronyl trnasferase, with normal liver architecture
consequently no elevation in urobilinogen. Alkaline phosphatase is normal. Bilirubin concentrations are variable and jaundice can be precipitated by drugs, infection. e It is the commonest form of familial non-haemolytic hyperbilirubinaemia affecting 2% - 5% of the population. (Cornwall Trainers) GILBERT'S SYNDROME (hyperbilirubinaemia):
Mild deficiency of bilirubin glucuronosyl transferase. Unclear inheritance, many cases have no familial incidence. Unconjugated hyperbilirubinaemia, usually total bilirubin < 86umol/L (5mg/dl). Other LFT's normal. DIAGNOSIS: Exclude haemolysis. Unconjugated bilirubin level. Increase in serum bilirubin of > 25umol/l following 2 days of 1255kJ (300Kcal) dietary restriction. Normal liver biopsy. In a young man with a four day history of bloody diarrhoea:
A shigellosis is a likely diagnosis (True) B the finding of cysts to E. histolytica in the stools confirms a diagnosis of acute amoebic dysentry (False) C cholera is a likely diagnosis (False) D a negative amoebic fluorescent antibody test excludes a diagnosis of acute amoebic dysentry (False) E giardiasis is a likely diagnosis (False) -------------------------------------------------------------------------------Comments: Infective causes plus inflammatory bowel disease should be considered in the differential diagnosis of a young man with bloody diarrhoea. Shigellosis is a possible cause. b-trophozoites seen in acute dysentry. Cysts for E. Histolitica are not 100% sensitive for amoebic dysentery. c+e-watery diarrhoea Irritable bowel syndrome: A runs a chronic relapsing course (False)
B can be confirmed by colonic motility studies (False) C incidence is increased with anxiety disorders (True) D smooth muscle function of the bladder is also affected (True) E abdominal pain improves with increased dietary fibre intake (False) Comments: Irritable bowel syndrome tends to be more common in young women and symptoms tend to ease with increasing age. Symptom patterns are variable but tend to episodic in nature often precipitated by an identifiable dietary factor or stress. There are no specific diagnostic features on manometric testing. There is an overlap with both depression and anxiety disorders. Studies have shown that approximately 40% of IBS patients will have increased anxiety scores. Increased rates of detrusor muscle instabilty (urinary frequency, urgency) and symptoms due to upper GI dysmotility are reported suggesting that there may be a generalised dysfunction of smooth muscle. Dietary advice will depend on the predominant symptom pattern and whilst dietary fibre may be indicated for patients with predominant constipation it may exacerbate symptoms of bloating and abdominal pain in those where loose stool and bowel spasm are the major features. Recognised associations of untreated coeliac disease include: A Bronchiectasis (False) B Rickets (True) C Hypotonia (True) D Low ferritin (True) E Digital clubbing (True) Comments: Gluten-sensitive enteropathy is a disorder in which small-bowel mucosal damage is the result of a permanent sensitivity to dietary gluten. The disorder does not present until gluten products have been introduced into the diet. Typically, the most common period of presentation is between 6 months and 2 years of age. Incidence is
1:10,000 live births. Three components interact in the pathogenesis: toxicity of certain cereals, genetic predisposition, and environmental factors. The disorder develops only after chronic dietary exposure to the protein gluten, which is found in wheat, rye, oats, and barley. The activity of gluten resides in the gliadin fraction, which contains certain repetitious amino acid sequences (motifs) that lead to sensitisation of lamina propria lymphocytes. The immunologic response to gluten results in villus atrophy, crypt hyperplasia, and damage to the surface epithelium in the small bowel. The injury is greatest in the proximal small bowel and extends distally for a variable distance. The mode of presentation is variable; the majority present with diarrhoea. Children can have failure to thrive or vomiting as the only manifestation. Perhaps as many as 10% of children referred to endocrinologists for growth retardation without an endocrine or overt gastrointestinal disorder have gluten sensitivity. Anorexia is common and may be the major cause of weight loss or lack of weight gain. Infants with gluten-sensitive enteropathy are often, but not always, clingy, irritable, unhappy children who are difficult to comfort. In contrast to infants with cystic fibrosis, they are not interested in food, although this is not always the case. Pallor and abdominal distension are common. Large, bulky stools suggestive of constipation have been described in some children with this condition. Digital clubbing can occur. There is an increased prevalence of gluten-sensitive enteropathy in children with selective IgA deficiency or diabetes mellitus compared with unaffected children. Lymphocytic gastritis occurs in a rare child with gluten-sensitive enteropathy. The most useful screening test for malabsorption is a microscopic examination of stool for fat. Other initial studies should include a complete blood count, serum albumin, and serum immunoglobulin levels. Nutrients that may be measured in blood include iron, the level of which depends on transferrin concentration as well as on absorption; folic acid, the red cell concentration being a more accurate reflection of nutritional status than the serum concentration; calcium and magnesium; vitamin D and its metabolites; vitamin A; and vitamin B12. Copyright © 2002 Dr Colin Melville
Bile salts Bile salts are steroids with detergent properties which are used to emulsify lipids in foodstuff passing through the intestine to enable fat digestion and absorption through the intestinal wall. They are secreted from the liver stored in the gall bladder and passed through the bile duct into the intestine when food is passing through. Biosynthesis represents the major metabolic fate of cholesterol, accounting for more than half of the 800mg/day of cholesterol that the average adult uses up in metabolic
processes. By comparison, steroid hormone biosynthesis consumes only about 50 mg of cholesterol per day. Much more that 400 mg of bile salts is required and secreted into the intestine per day, and this is achieved by re-cycling the bile salts. Most of the bile salts secreted into the upper region of the small intestine are absorbed along with the dietary lipids that they emulsified at the lower end of the small intestine. They are separated from the dietary lipid and returned to the liver for re-use. Re-cycling thus enables 20-30g of bile salts to be secreted into the small intestine each day. The most abundant of the bile salts in humans are cholate and deoxycholate, and they are normally conjugated with either glycine or taurine to give glycocholate or taurocholate respectively. The conjugation is important in identifying the bile salt for re-cycling back to the liver.
The following drugs are inducers of hepatic enzymes:
A B C D E
Cimetidine Phenytoin Rifampicin
(False) (True) (True) Allopurinol
Carbamazepine
(True)
Comments: Drug metabolism within the hepatocyte involves two primary enzymatic processes: phase I, or nonsynthetic, and phase II, or synthetic reactions. Phase I reactions include oxidation, reduction, hydrolysis, and hydroxylation reactions, whereas phase II reactions primarily involve conjugation with glycine, glucuronide, or sulphate. Most drug-metabolising enzymes are located in the smooth endoplasmic reticulum of cells that are recovered as the microsomal fraction on homogenation. Of these mixed function oxidase systems, the cytochrome P-450 system has been studied in greatest detail. In addition, the extent of fetal hepatic drug metabolism may be influenced by hepatocyte concentrations of ligandin. Ligandin, or Y protein, is a basic protein responsible for substrate uptake by metabolising cells. Ligandin binds bilirubin and organic anions, including drugs. Although concentrations of ligandin at birth are low, values comparable to those in adults have been observed in the 1st 500 days of postnatal life. Inducers fall into three categories: 1. General, stimulating many pathways e.g. barbiturates, alcohol, nicotine, rifampicin, phenothiazines
2. Polycyclic hydrocarbons e.g. 3-methylchloranthrene 3. Steroids stimulating microsomal enzymes, especially hydroxylation, dealkylation, deamination, desulphuration and glucuronidation. Important induction interactions include: • Oral anticoagulants • Rickets with anti-epileptics • Decreased OCP effectiveness Decreased efficacy of antiepileptics • Cimetidine retards oxidative hepatic drug metabolism by binding to microsomal cytochrome P450. It should be avoided in patients stabilised on warfarin, phenytoin, and theophylline (or aminophylline),
Regarding encopresis: A Retained faeces may be the result of an anal fissure. (True) B 5% of children continue to soil themselves at the age of 5 year. (False) C A Microlax enema is almost always required to clear faecal loading. (False) D Oral laxatives may be required for 2-4 weeks after the removal of faecal loading. (False) E Soiling of the pants makes Hirschprung's Disease unlikely. (True) Comments: Beyond the age of 4 years soiling is abnormal. There are 2 major groups, those with faecal loading (most) and those without. Faeces in the rectum is always abnormal. Loading may be secondary to constipation following dehydration, or inability of defecation because of pain or fear of punishment or anxiety about using the toilet. Laxatives, Picolax and enemas should be used in that order, with the majority being cleared without enema. Laxatives may be needed for many months until the rectum shrinks down to a normal size. Occasionally, children continue soiling as a revenge measure, but those defecating in abnormal sites usually require a psychiatric referral. Typical features of trichiniasis include:
A prodromal diarrhoea and vomiting
(True)
B C D E
peri-orbital oedema vesicular rash enlargement of lymph nodes tenderness of muscles
(True) (False) (False) (True)
Comments: + fever, eosinophilia, myocarditis, pneumonitis + elephantiasis.
Causes of splenomegaly in a child include:
A B C D E
Infectious mononucleosis Eczema Pyruvate kinase deficiency Scurvy Sickle cell anaemia
(True) (False) (True) (False) (True)
Comments: A soft thin spleen may be palpable in 10% of neonates, 10% of normal children, and 5% of adolescents. In most individuals, the spleen must be 2-3 times its normal size before it is palpable. Common causes of splenomegaly include: • Infection: Bacterial: typhoid, endocarditis, septicaemia, abscess. • • Viral: EBV, CMV and others. Protozoal: malaria, toxoplasmosis. • • Haematological: haemolytic anaemia (congenital or acquired), extramedullary haematopoiesis: thalassaemia, osteopetrosis, myelofibrosis. • Oncological: Malignant: Leukaemia, lymphoma, metastatic disease. • • Benign: Haemangioma, hamartoma. Infiltration/Storage: • • Lipidoses: Niemann-Pick, Gaucher. • Muccopolysaccharidoses - Infiltration: histiocytosis. Congestion: • • Cirrhosis or hepatic fibrosis. Hepatic, portal or splenic vein obstruction. • • Congestive heart failure.
•
Cysts: •
•
Congenital (true cysts) or acquired (pseudocysts).
Other:
SLE, sarcoid, rheumatoid arthritis. Although splenic enlargement is seen in all these conditions, this is not invariable. However, in polycythaemia rubra vera, the diagnostic criteria are increased total red blood cell volume, an arterial oxygen saturation of greater than or equal to 92%, and splenomegaly. The disorder in this condition is that erythroid precursors do not require erythropoietin to stimulate growth. •
A 4 week old baby presents with jaundice. The following statements are true:
A No investigations are necessary if the baby is entirely breast fed. B It is an indication to stop breast feeds. C Conjugated hyperbilirubinaemia can be physiological. D Breast milk jaundice is associated with pale stools. E Jaundice is a characteristic feature of congenital adrenal hyperplasia.
(False) (False) (False) (False) (False)
Comments: Prolonged jaundice should always be investigated. Causes: • Unconjugated: Breast milk. Urinary tract infection. Hypothyroidism Continued haemolysis. High GI obstruction. Crigler-Najjar Syndrome • Conjugated: Hepatitis - Infection - TORCH, Hepatitis A, B. - Metabolic Galactosaemia, CF, L0-AT deficiency. - Obstruction - Biliary atresia, choledochal cyst, TPN. Congenital adrenal hyperplasia may cause salt loss and jaundice second to dehydration, but this is not characteristic. Cow's milk:
A Has a high iron content relative to breast milk. (True) B Has a higher curd:whey ratio than breast milk. (True) C Empties more slowly from the stomach than breast milk.
(True) D Can be a source of Brucella infection. (True) E Is a rich source of calcium. (True) -------------------------------------------------------------------------------Comments: Table 10.8 Illustrated Textbook of Paediatrics (ITP). Breast feeding can transfer HIV, CMV, and hepatitis B infection. Cow's milk can transfer tuberculosis and brucellosis.
Crohn's disease: A Is associated with an increased incidence of carcinoma of the colon. (True) B Is associated with sclerosing cholangitis. (True) C Is associated with ankylosing spondylitis. (True) D Results in an increased susceptibility to TB. (False) E Is more likely if there is a family history. (True) Comments: Long-term morbidity and mortality is common due to: GI: Fistulae, perianal disease, intra-abdominal abscesses, bowel stricture, • sclerosing cholangitis, CAH, Ca colon, (< for UC). EXTRA GI: Pyoderma gangrenosum, ankylosing spondylitis. • Coeliac disease is characterised by: A reduced intestinal lactase activity (True) B association with HLA-B8 (True) C increased polymorphs in the lamina propria (False)
D reduced villus and crypt length (False) E increased incidence of antibodies to casein (True) Comments: Villous but crypt hyperplasia typify coeliac disease. c)=lymphocytes. Casein antibodies are found, also anti-endomysial and TTG antibodies in the vast majority (above 95%). Congenital pyloric stenosis: A Presents in the first few weeks after birth. (True) B Can cause hyperchloraemic alkalosis. (False) C Is inherited as an autosomal recessive. (False) D Typically presents with bile stained vomiting after feeds (False) E Is often diagnosed by feeling a mass in the right hypochondrium. (True) Comments: Hypertrophic pyloric stenosis occurs in approximately 3:1,000 live births. Males (especially first born) are affected approximately four times as often as females. Family clustering occurs. Pyloric stenosis is associated with other congenital defects including tracheoesophageal fistula. The vomiting usually starts after 3 wk of age, but symptoms may develop as early as the 1st wk of life and as late as the 5th months. Nonbilious vomiting is the initial symptom, which progressively becomes more vigorous. As vomiting continues, there is a progressive loss of fluid, hydrogen ion, and chloride, leading to a hypochloraemic metabolic alkalosis. The diagnosis is established by palpating the pyloric mass. The mass is firm, movable, approximately 2 cm in length, olive shaped, hard, best palpated from the left side, and located above and to the right of the umbilicus in the midepigastrium beneath the liver edge. Imaging procedures (USS or Barium meal) are reserved for those infants in whom the diagnosis remains in doubt. Copyright © 2002 Dr Colin Melville Pseudomembranous colitis: A Can be transmitted from patient to patient.
(False) B Characteristically causes severe abdominal cramps. (True) C Characteristically have plaques on sigmoidoscopy. (True) D Is best diagnosed by the confirming presence of C. difficle toxin B in faeces. (True) E Characteristically causes leukocytosis. (False) Comments: Diarrhoea is a common complication of antibiotic use and is usually self-limited, requires no investigation, and stops when the antibiotics are discontinued. This benign antibiotic-associated diarrhoea may be due to a transient alteration of the balance of colonic microbiologic flora and does not produce obvious pseudomembranous colitis. In contrast, antibiotic-associated pseudomembranous colitis is a very serious disease due to toxigenic Clostridium difficile, a spore-forming, gram-positive obligate anaerobic bacillus that is part of the normal flora of 3% of adults and a much higher percentage of asymptomatic neonates (50-70%) and infants (20-50%), who may remain unaffected despite carriage because their intestinal epithelium does not yet express the toxin receptor. C. difficile is not invasive and produces pseudomembranous colitis through production in the colon of two large molecular weight toxins. Toxin A acts primarily on the intestinal mucosa to produce diarrhoea and is thought to be the principal mediator of illness, while toxin B in low doses increases vascular permeability and in high doses is lethal to experimental animals. Antibiotics, chemotherapeutic agents, antiviral drugs, dietary changes, intestinal motility disorders (Hirschsprung's disease), uraemia, and anaesthesia all predispose to it. The clinical manifestations include symptoms with a wide range of severity, varying from mild, non-bloody, watery-brown diarrhoea with abdominal cramps to a severe haemorrhagic colitis with protein-losing enteropathy, hypoalbuminemia, shock, fever, leukocytosis, abdominal tenderness and distension, toxic megacolon, colonic (cecal) perforation, peritonitis, secondary sepsis, and death. The diagnostic criteria for C. difficile diarrhoeal disease and colitis require detection of faecal toxin B (cytotoxin) in a symptomatic patient. Sigmoidoscopic demonstration of pseudomembrane formation is not essential and may risk bowel perforation in severe cases. Lesions appear as greyish-white exudates that are poorly adherent and are surrounded by an oedematous and erythematous inflammatory response. Copyright © 2002 Dr Colin Melville
Useful indices of dehydration in infants include: A Assessment of intra-ocular tension by palpation (False) B Skin turgor over the dorsum of the hand (False) C Palpation of the anterior fontanelle (True) D Blood pressure (False) E Serum sodium concentration (False) Comments: Signs of dehydration are very unreliable in the infant and always lag behind symptoms. Other than palpation of the anterior fontanelle there are few useful clinical signs. Thirst and oliguria may occur if the child is > 5% dehydrated . Tachycardia and low blood pressure only occur in severe cases of > 10% dehydration. Skin turgor is unreliable in overweight infants. Serum sodium may be entirely normal, or it may be low if there is electrolyte loss in the stool. However raised serum sodium can be seen when water loss is in excess of electrolytes. The following are recognised causes of non-organic failure to thrive: A Maternal eating disorders (True) B Maternal depression (True) C Inadequate housing (False) D Inadequate social support (False) E Lack of extended family (False) Comments: Under-nutrition is the final common pathway, usually from a combination of inadequate or inappropriate feeding and psychosocial factors. Maternal depression or psychiatric illness, and poor maternal education may contribute. Accompanying, but probably not causative, factors include poor housing, poverty, inadequate social support, and lack of extended family. Copyright © 2002 Dr Colin Melville
The following are thought to be long term outcomes of early nutritional deficiency:
A B C D E
Short stature Diabetes mellitus Ischaemic heart disease Obesity Obstructive lung disease
(True) (True) (True) (False) (True)
Comments: Major problems have been described as long term sequale of growth retardation: 1. Decreased linear growth - this is the reason why the average height of the population is increasing and immigrant children born in this country are much taller than their parents. 2. Associations with adult diseases include: Obstructive lung disease. • • Ischaemic heart disease and hypertension. Glucose intolerance. • Copyright © 2002 Dr Colin Melville
Ulcerative colitis (UC) is associated with: A Ankylosing spondylitis (True) B Renal tubular acidosis (False) C Episcleritis (True) D Sub-total villous atrophy (False) E Psoriasis (False) Comments: UC only affects the colon, except for the rare backwash ileitis. Thrombocytosis may be a non-specific sign of inflammation. Extra-intestinal manifestations tend to occur more commonly with ulcerative colitis than with Crohn's disease. Growth retardation
may be seen in 10-35% of individuals at diagnosis. Extra-intestinal manifestations that occur with IBD include joint, skin, eye, mouth, and hepato-biliary involvement. Amongthe skin manifestations, erythema nodosum is most common. Glomerulonephritis and a hypercoagulable state are other rare manifestations that occur in childhood. Cerebral thromboembolic disease has been described in children with IBD. Uveitis occurs in about 5% of children with IBD and is usually asymptomatic and transient. Copyright © 2002 Dr Colin Melville The following are known disadvantages of soy milk formulae: A Approximately 25% of infants with cow's milk protein intolerance will develop soy intolerance. (True) B Soy milk formula tastes worse than elemental milks. (False) C Infants respond poorer to vaccinations than those on cow's milk formula. (True) D Infants have lower complement levels than those on cow's milk formula. (False) E Infants have higher aluminium levels than those on cow's milk formula. (True) Comments: There is no convincing evidence that using soy milk reduces the incidence of atopy. 25% of infants with CMI will develop soy intolerance. Soy formulae contain high levels of aluminium, and infants have lower serum immunoglobulin levels and poorer responses to vaccinations. It is much more palatable than elemental milks, which are pretty vile tasting. Copyright © 2002 Dr Colin Melville A young child is seen with poor weight gain and is suspected of having malabsorption. Which of the following may be responsible? A Gluten sensitivity (True) B Giardia lamblia infestation (True) C Severe iron deficiency anaemia (True) D Aquired megacolon (False) E Peptic ulceration
(False) Comments: Coeliac disease and severe iron deficiency in childhood will cause defective luminal transport of nutrients. The commonest malabsorption syndrome in childhood is transient disaccharide intolerance following infections such as giardia and viral infections. The last two conditions will not affect transport of nutrients in the small intestinal lumen. The following conditions can present with a clinical picture resembling Reye's Syndrome: A Medium change acell co-adyhydrogenase deficiency (True) B Systemic carnatine deficiency (True) C Meningitis (True) D Valproate ingestion (True) E Fructose 1,6, diphosphatase deficiency (True) Comments: Classic Reye's Syndrome exhibited as stereotypic biphasic course. It occurs in previously healthy children with a prodromal febrile illness (90% upper respiratory tract infection, or chickenpox 6%) followed by apparent recovery. There is subsequent abrupt protracted vomiting a week later resulting in delirium, stupor and combative behaviour. This progress to seizures, coma and death with a notable absence of focal neurology. The liver may be mildly enlarged but the child does not have jaundice. CSF is clear apart from elevated pressure. A 5 stage grading system is suggested: I. Lethargy. • • II. Confusion. III. Light coma -/+ seizures with decorticate rigidity. • • IV. Deep coma, seizures and a cerebrate rigidity. • V. Deep coma with absent tendon reflexes, respiratory arrest and fixed dilated pupils with flacidity or intermittent decerebrations. The differential diagnosis includes: Metabolic disease. •
Organic acidurias, urea cycle defects, defects in fatty acid metabolism (including carnatine deficiency). CNS infection (meningitis, encephalitis, toxic encephalopathy). • • Haemorrhagic shock with encephalopathy. • Drug ingestion (salicylates, valproate). Copyright © 2002 Dr Colin Melville Alpha-1 antitrypsin deficiency is associated with: •
A B C D E
panniculitis neonatal jaundice glomerulonephritis bronchiectasis cANCA
(True) (True) (True) (True) (True)
Comments: a) Panniculitis is nodular fat necrosis. The nodules vary in size and are tender lasting 1 - 8 weeks. There may be systemic upset. Other causes of panniculitis with systemic disease include SLE, scleroderma, lymphoma, histiocytosis and pancreatic disease. b) 80% of PiZZ genotypes show biochemical signs of hepatocellular damage in the first year of life d) and emphysema of course (Note: Pseudomonus aeruginosa makes a protease which cleaves alpha-1 antitrypsin thereby producing lung damage). e) cANCA may be seen in PiMZ and PiZZ genotypes.
Acute diarrhoea in children in the UK:
A When infectious is most commonly caused by a virus (True) B May be a manifestation of systemic infection (True) C Is primarily a failure of absorption by the gut (False) D May result in metabolic acidosis (True) E Improves when treated with antimotility drugs (False)
-------------------------------------------------------------------------------Comments: The common viral causes include Rota virus, Adenovirus and Norwalk. It may be a feature of a systemic viral or bacterial infection. Malabsorption is an exceedingly rare cause of acute diarrhoea in the UK. Diarrhoea, infection and shock may all cause metabolic acidosis by reduction in plasma bicarbonate and unbalanced acid production and excretion. Anti-motility drugs are not recommended, the condition improves with oral rehydration therapy.
-------------------------------------------------------------------------------Radiological hallmarks of inflammatory bowel disease suggesting an underlying diagnosis of Crohn's disease are:
A B C D E
rose-thorn ulcers. fistulas. stricture. collar stud ulcers. shortened narrowed colon.
(True) (True) (True) (False) (False)
Comments: Collar stud ulcers occur in both ulcerative colitis and Crohn's disease and a shortened narrowed colon would suggest ulcerative colitis. From Hannam et al. MRCP (Paediatrics) Part 1 MCQs. page 117 © WB Saunders. Reproduced with permission.
The following are accepted investigations for pancreatic insufficiency: A 14C triolein ingestion with measurement of 14CO2 (True) B Hour stool fat measurement (True) C Stool albumin level (False) D Stool chymotrypsin level (True)
E Lund meal (True) Comments: Pancreatic function can be measured by direct and indirect methods. Direct stimulation with a Lund meal of corn oil, skimmed milk powder and dextrose or with secretrin plus cholecystokinin is accompanied by measurement of tripsin, chymotripsin, lipase, amylase and bicarbonate in aspirated secretions. Indirect methods include: a) Qualitative - microscopy for fat globules. b) Quantitative - 3 day faecal fat, stool chymotripsin or tripsin, and carbon labelled triglyceride breath tests. Bentyramide is a synthetic tripeptide or non-invasive testing of pancreatic enzyme function. After oral ingestion it is split by chymotripsin releasing paraminobenzoic acid which is excreted by the kidneys. This can be measured in a serum specimen obtained at 90 minutes. Copyright © 2002 Dr Colin Melville The following are known to be associated with oesophageal atresia: A Maternal oligohydraminos (False) B Cyanosis on feeding (True) C Cyanosis relieved by crying (False) D Cardiovascular malformations (True) E Scaphoid abdomen (False) Comments: Oesophageal atresia has an incidence of 1:3000 live births. In 85% of cases there is a fistula between the trachea and distal oesophagus. It should be suspected if there is maternal polyhydraminos, if a large ball nasogastric catheter cannot be inserted into the stomach, if the child has excessive bubbly secretions, or if there is choking, cyanosis or coughing during feeds. Aspiration rapidly occurs. The stomach normally fills with air, which can be demonstrated on a chest x-ray, with the nasogastric tube in the pouch. An H-shaped fistula is unusual. 50% of infants have associated cardiovascular skeletal or renal abnormalities (VATER Syndrome). Cyanosis, relieved by crying, is characteristic of choanal atresia. Copyright © 2002 Dr Colin Melville
In chronic untreated renal failure the following findings are characteristic: A Metabolic alkalosis (False) B Hypokalaemia (False) C Hyperosmolar dehydration (False) D Hypercalcaemia (False) E Hypercalcinuria (True) Comments: Chronic renal failure under the age of 5 is usually due to anatomical abnormalities, while over the age of 5, acquired glomerular diseases or hereditary diseases of the glomerulus (e.g. Alport's Syndrome) predominate. Major pathophysiological abnormalities of chronic renal failure: • Accumulation of nitrogenous waste products. • Acidosis: bicarbonate wasting, decreased ammonia secretion, decreased acid excretion. • Sodium wasting: solute diuresis, tubular damage. Sodium retention: Nephrotic Syndrome, CCF, anuria, excess sodium intake. • • Urinary concentrating defect: nephron loss, solute diuresis. • Hyperkalaemia: decreased GFR, acidosis, hyperaldosteronism. Renal osteodystrophy: decreased intestinal calcium absorption, impaired 12• dihydroxy Vitamin D production, secondary hyperparathyroidism. Growth retardation: protein calorie deficiency, renal osteodystrophy, acidosis, • anaemia. • Anaemia: decreased erythropoeitin production, low grade haemolysis, inadequate intake. Bleeding tendency: thrombocytopenia, decreased platelet function. • • Infection: defective granulocyte function. • Neurology: uraemia, aluminium toxicity results in fatigue, poor concentration, headache, memory loss, slurred speech, muscle weakness and cramps, seizures and coma. GI ulceration: gastric acid hypersecretion. • • Hypertension: sodium and water overload, hyperammonaemia. Hypertriglyceridaemia: decreased plasma lipoprotein lipase activity. • • Pericarditis and cardiomyopathy: cause unknown.
Glucose intolerance: tissue insulin resistance. Copyright © 2002 Dr Colin Melville •
Giardia lamblia: A May cause intestinal malabsorption (True) B Often causes blood loss in the stool (False) C Is a cause of traveller’s diarrhoea (True) D May be excluded by stool microscopy (False) E May be treated with Co-Trimoxazole (Septrin) (False) Comments: Giardia is a common cause of intestinal malabsorption. Blood loss is not a feature of this condition. It is a common cause of traveller’s diarrhoea. Stool microscopy to detect cysts and oocysts is labour intensive and lacks the sensitivity of the current test of choice ; the detection of antigens on the surface of the organisms in the stool specimen . It is treated with metronidazole. The following are more frequently complications of Crohn's disease than of ulcerative colitis
A B C D E
Acute toxic dilatation of the colon Aphthous ulcers Carcinoma of the colon Gallstones Perianal abscesses
(False) (True) (False) (True) (True)
Comments: TOXIC MEGACOLON CAN COMPLICATE CROHN'S COLITIS, PSEUDOMEMBRANOUS COLITIS AND INFECTIOUS COLITIS BUT IS MOST COMMONLY SEEN WITH SEVERE UC. APHTHOUS MOUTH ULCERS ARE MORE COMMON WITH CROHN'S DISEASE THAN UC BUT MAY BE SEEN IN UP TO 10% OF PATIENTS WITH ACTIVE UC. DESPITE A WIDELY HELD VIEW TO THE CONTRARY, THERE IS GOOD EVIDENCE THAT WITH THE SAME DURATION AND ANATOMIC EXTENT, THE RISK OF COLON CANCER IN
CROHN’S DISEASE IS AT LEAST AS GREAT AS WITH UC. ONLY A SMALL PERCENTAGE OF THOSE WITH CD HOWEVER HAVE EXTENSIVE COLITIS. GALLSTONES ARE SEEN IN 15-30% OF PATIENTS WITH SMALL BOWEL CROHN’S DISEASE DUE TO ALTERATIONS IN THE BILE SALT POOL SECONDARY TO ILEAL DYSFUNCTION ± SURGICAL RESECTION. PERIANAL FISSURES / FISTULAS / ABSCESSES EVENTUALLY OCCUR IN ABOUT 1/3RD OF PATIENTS WITH CROHN'S DISEASE.
A baby of 2 months who is considered to be 10% clinically dehydrated with gastroenteritis:
A May have blood and mucus in his stools (True) B Will have a full fontanelle (False) C Will have a low packed cell volume (False) D Will have increased urea level (True) E Should not be given milk orally for at least 48 hours (False) -------------------------------------------------------------------------------Comments: Blood and mucus may be seen with dysentry and E.coli infection. The fontanelle will be sunken and haematocrit will be raised. An increased urea will be seen in this degree of dehydration. Oral feeding should be continued whenever possible.
-------------------------------------------------------------------------------Chest pain due to the oesophagus: A Is not related to reflux. (False) B Can be relieved by glyceryl trinitrate. (True) C Increases with exercise.
(False) D Can be precipitated by edrophonium. (True) E Is only associated with swallowing. (False) Comments: The common symptoms and signs of oesophageal disease are cough or choking with swallowing, regurgitation or vomiting, dysphagia, complete inability to swallow, pain on swallowing (odynophagia), and haematemesis. Each can be attributed to one or more defects in the complex coordination of the swallowing sequence. Oesophagitis may cause the following symptoms: • EARLY: Salivation, refusal to drink, nausea, vomiting, epigastric pain, oral burns or ulcerations, fever, and leukocytosis that may clear in a few days, and rarely, oesophageal perforation. LATE: Oesophageal strictures may develop over a few weeks and cause • dysphagia and weight loss. Diffuse oesophageal spasm may be a cause of chest pain and dysphagia in adolescents. This primary motility disorder has characteristic oesophageal contractions noted on manometry simultaneously with midchest, retrosternal pain after swallowing liquids. Tensilon testing may provoke pain. Treatment is usually not needed, except in more severe cases, in which nitrates or calcium channel blocking agents have been successful. Copyright © 2002 Dr Colin Melville Intussception: A Is more common in the first 3 months of life (False) B Can be associated with Henoch-Schonlein purpura (True) C May present with red current jelly stools in the first few hours (False) D In well patients, can usually be reduced by Barium enema (True) E Should always be investigated fully for the cause after reduction (False) Comments: Intussusception occurs when a portion of the alimentary tract is telescoped into a segment just distal to it. It is the most common cause of intestinal obstruction
between 3 months and 6 yr of age; it is rare in children younger than 3 months and decreases in frequency after 36 months. The incidence varies from 1-4/1,000 live births. The male to female ratio is 4:1. A few intussusceptions reduce spontaneously or become autoamputated; if left untreated, most would lead to death. In about 500% of patients recognisable lead points for the intussusception are found, such as inverted appendiceal stump, Meckel diverticulum, an intestinal polyp, duplication, or nlein lymphosarcoma. Uncommonly, the condition will complicate Henoch-Sch nlein purpura, with an intramural haematoma acting as the apex of the intussusception. Rarely, intussusception is postoperative and then always ileoileal . Intussusception occurs in dehydrated patients with cystic fibrosis. Unusual lesions include metastatic tumours, haemangioma, foreign bodies, parasitic infection, and faecolith; they can occur following cancer chemotherapy. Lead points are more common in very young and older patients. Stools of normal appearance may be evacuated during the 1st few hr of symptoms. After this time faecal excretions are small or more often do not occur, and little or no flatus is passed. Blood generally is passed in the first 12 hr, but at times not for 1-2 days and infrequently not at all; 60% of infants will pass a stool containing red blood and mucus, the currant jelly stool. Intermittent colicky pain can occur, and the palpation of a sausage-shaped mass in the abdomen confirms the diagnosis. In more than 75% of cases of short duration, when there are no signs of prostration, shock, intestinal perforation, pneumatosis intestinalis, or peritoneal irritation, it is possible to reduce the intussusception by hydrostatic or pneumatic pressure under fluoroscopic or ultrasonographic guidance and with the consultation and close proximity of a surgeon. Copyright © 2002 Dr Colin Melville Insulin action:
A incre increas ases es liver liver glyc glycog ogen enoly olysis sis (False) B incre increas ases es muscl musclee glycog glycogen en synthe synthesis sis (True) C incre increase asess liver liver glucon gluconeo eoge gene nesis sis (False) D increas increases es liver liver fatty fatty acid synthes synthesis is (False) E facilita facilitates tes red blood blood cell cell glucose glucose uptake uptake (False) --------------------------------------------------------------------------------
Comments: Insulin acts to inhibit lipolysis and gluconeogenesis by promoting glycogenesis. It inhibits the production of fatty acids from liver and adipocytea. e-Does not increase uptake into brain or liver either. -------------------------------------------------------------------------------Intestinal glucose absorption:
A is a passive process (False) B from dietary starch requires prior luminal hydrolysis by (True) pancreatic amylase C is sodium dependent (True) D from sucrose requires brush border disaccharidase activity(True) E shares a common carrier with galactose (True) Comments: Glucose absorption from the GI tract is an active process and is dependent on sodium transporters. All sugars are broken down to their constituent monosaccharides and in sucrose's case 2 glucose molecules by the disaccharidase - Sucrase.
Meconium ileus is associated with A Distal intestinal obstruction (True) B Cystic fibrosis (True) C Stomach outflow tract obstruction (False) D A presentation presentation with neonatal neonatal bile-stained vomiting and abdominal abdominal distension distension (True) E Plain x-ray showing an intra-luminal 'ground glass' appearance (True) Comments: Meconium ileus is a common cause of neonatal intraluminal intestinal obstruction. Over 80% of cases are associated with cystic fibrosis. In these patients, pancreatic secretions are abnormally viscid and the meconium becomes inspissated in the distal ileum. Beyond the level of the obstruction the bowel is collapsed and the colon
is empty. Bile-stained vomiting in a neonate is always abnormal and is a feature of meconium ileus. A plain abdominal x-ray will show dilated ileal loops and intraluminal 'ground glass' appearance. Surgical treatment can be by enterotomy and lavage. In congenital hypertrophic pyloric stenosis:
A The classical radiological appearance is The “double bubble” B Vomiting typically starts at 2 to 4 weeks C Vomitus is bile stained D Refusal of feeds is a feature E Hypochloraemic alkalosis occurs
(False) (True) (False) (False) (True)
Comments: The characteristic radiological feature is the ‘string sign’, which comprises a thin contracted pyloric canal, containing a central streak of barium. The clinical symptoms commonly appear in this time frame. The vomiting is not bile stained but consists of large volumes of curdled milk. Appetite and feeding are normal or increased. The characteristic metabolic abnormality is hypochloraemic hypokalaemic alkalosis.
Features of infantile pyloric stenosis include: A Projectile vomiting (True) B Anorexia (False) C Loose stools (False) D More frequent in girls (False) E Hyperchloraemic acidosis (False) Comments: Projectile vomiting of large quantities of curdled milk is characteristic. Anorexia and loose stools are not clinical features. It is commonest in first-born male children. The classical biochemical picture is of hypokalaemic, hypochloraemic metabolic alkalosis.
The following statements are true: A Folate and vitamin B12 are mainly absorbed in the jejunum. (False) B Bioavailability of folate is improved by cooking. (False) C Absorption of dietary folate is mainly via the portal vein. (True) D Chronic iron deficiency anaemia may be due to coeliac disease. (True) E Glucose is absorbed from the gut 1:1 with sodium. (True) Comments: Folate is absorbed throughout the small intestine, Vitamin B12 in the terminal ileus. Folate is denatured by cooking (heat labile). Na/glucose transporter - mechanism of ORT functioning. Copyright © 2002 Dr Colin Melville The following are known potential disadvantages of breast feeding: A Transmission of hepatitis B (True) B Chronic conjugated hyperbilirubinaemia (False) C Hypothyroidism secondary to transmission of antithyroid drugs (True) D Late haemorrhagic disease of the newborn (True) E HIV transmission (True) Comments: Although there are many advantages to breast feeding, a number of disadvantages also exist: • Unknown intake. Transmission of infection (CMV, hepatitis, HIV). • • Breast milk jaundice (unconjugated, and not a contraindication). • Drug transmission. Vitamin K deficiency. • Copyright © 2002 Dr Colin Melville
McCune-Albright's disease (Polyostotic fibrous dysplasia) typically produces: A osteitis fibrosa disseminata (True) B low output failure (False) C pigmentation (True) D precocious puberty (True) E convulsions (True) Comments: McCune-Albright's disease is a skeletal developmental anomaly of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. medullary bone is replaced by fibrous tissue, which appears radiolucent on radiographs, with the classically described ground-glass appearance. Sex incidence is equal and it is associated with precocious puberty, thyrotoxicosis, acromegaly, Cushing's syndrome. Pigmentation is unilateral. Hepatic copper content is increased in: A chronic hepatitis B (False) B Wilson's disease (True) C primary sclerosing cholangitis (True) D porphyria cutanea tarda (False) E Indian childhood cirrhosis (True) Comments: Elevated heaptic copper is typically found in Wilson's disease (autosomal recessive condition). Similarly, any cause of cholestasis such as PSC may cause elevated hepatic copper. Indian childhood cirrhosis is a discrete clinical and histologic entity in which large amounts of copper are deposited in the liver.
Role of copper in Indian childhood cirrhosis. Tanner MS. Department of Paediatrics, University of Sheffield, United Kingdom.
[email protected] Of the cirrhoses that affect Indian children, Indian childhood cirrhosis (ICC) is a discrete clinical and histologic entity in which large amounts of copper are deposited in the liver. The evidence linking copper deposition to increased dietary copper intake in infancy was reviewed. Prevention of this feeding pattern prevents ICC, and the disease has now largely disappeared from many parts of India. Penicillamine, if given before the terminal clinical stage of ICC, reduces mortality from 92% to 53%. Long-term survivors show a sequence of histologic resolution, resulting either in inactive micronodular cirrhosis or in virtually normal histologic appearance. Twentynine treated ICC patients reexamined at 8.8 y of age (range: 6.3-13 y), 5-12 y after diagnosis, were well and had normal results from liver function tests. Clinical and epidemiologic evidence show that there must be excessive copper ingestion for ICC to develop, but the lack of an animal model, the inconstant relation between liver copper concentrations and liver damage, and the rarity of liver disease in adults suggests that other etiologic factors contribute. Two mechanisms are discussed: 1) that copper may be acting in synergy with a hepatotoxin, or 2) that there may be a genetic predisposition to copper-associated liver damage, as suggested recently for Tyrollean childhood cirrhosis. Although ICC is now rare, sporadic cases of an ICClike disorder in infants continue to occur. There should be a greater awareness among pediatricians of this disease to enable early diagnosis. Penicillamine should be used early and adverse prognostic factors recognized as indications for early transplantation and unregulated water supplies should not be used to prepare infant feeds.
A male child of weight 4.2kg is admitted at age 4 weeks with a one week history of forceful vomiting after feeds. He is alert and eager for food but exhibits a loss of skin elasticity and has apparent distension in the left hypochondrium: A The most likely diagnosis is hiatus hernia (False) B He has hyperosmolar dehydration (False) C Characteristically he will have hypokalaemia
(True) D Initial fluid replacement should comprise normal saline 10-20 ml/kg in one hour (True) E He should be started on an anticholinergic drug, e.g. Atropine Methylnitrate (Eumydrin), before feeds (False) Comments: The most likely diagnosis is pyloric stenosis, which is more common in males ( M:F = 4:1 ratio)and characteristically presents 2-6 weeks after birth. This situation will cause a proportionate loss of fluid and electrolytes. Characteristically he will have hypokalaemic, hypochloraemic metabolic alkalosis. Initial resuscitation should be with normal saline, at twice the maintenance volume. This will ensure he is volume replete and prevent secondary activation of the renin/aldosterone system, which would cause more alkalosis and hypokalaemia. Once volume replete, the fluid can be changed to half strength saline with added potassium. Although there are a few emerging reports showing satisfactory short term and long term outcome with medical treatment, the preferred treatment is currently pylorotomy. This should be performed after successful resuscitation and electrolyte correction. The following situations are associated with a high risk of kernicterus: A Conjugated hyperbilirubinaemia at 14 days of age (False) B Jaundice associated with breast milk (False) C Birth asphyxia (True) D Growth retardation (False) E Hypothyrodism (False) Comments: Kernicterous (yellow nut) is neurotoxicity due to unconjugated bilirubin exceeding the albumin binding capacity of the blood. Unconjugated bilirubin is fat soluble and can cross immature blood/brain barrier. Early manifestations include: lethargy and poor feeding, irritability, opisthtonus. Late manifestations include: chorioathetoid cerebral palsy, learning difficulties, sensory
neural deafness. The incidence of kernicterous has greatly decreased since the introduction of prophylactic anti-D for Rhesus negative mothers. The likelihood of kernicterous is much higher with early jaundice (<24 hours), which is rapidly rising, especially if the child is preterm or sick (hypoxia, hypothermia or serious illness). Drugs which can displace bilirubin from albumin,( e.g. sulphonamides and diazepam) are best avoided in the newborn. Copyright © 2002 Dr Colin Melville Which of the following are features of juvenile arthritis? A irido-cyclitis (True) B papular rash (False) C micrognathia (True) D +ve SCAT test (True) E femoral condylar hypertrophy (True) Comments: Irido-cyclitis is a feature and the assocaited rash is Macular. d-Usually negative can be +ve in 10-20% of juvenile rheumatoid arthritis. SCAT = Sheep cell agglutination test is positive with Rheumatoid factor. Jejunal biopsy in coeliac disease: A Shows leaf-shaped villi (False) B Shows flattening of the crypts (False) C Appearances may resemble severe tropical sprue (True) D Shows fissures penetrating into the submucosa (False) E Characteristically shows epithelial cells distended with fat globules (False) Comments:
In coeliac disease, the villi are shortened and the crypts lengthened with increased lymphocytic infiltrate. Tropical sprue may also cause subtotal villous atrophy. Fissures are not found and epithelial cells are normal. Copyright © 2002 Dr Colin Melville Alpha 1 antitripsin: A Is a naturally occurring protein. (True) B Is an acute phase protein. (True) C Is produced in the liver. (True) D Causes liver disease in its homozygote form. (True) E Is associated with increased susceptibility to alcoholic liver disease in the heterozygote form. (False) Comments: Acute phase reactants are plasma constituents that appear or increase during the inflammatory state. They include the erythrocyte sedimentation rate (ESR), Creactive protein (CRP), serum mucoproteins, various a{alpha}-globulins, gamma globulins, some complement components, and certain proteins such as transferrin. A small percentage of individuals homozygous for deficiency of the major serum protease inhibitor, alpha0-antitrypsin, have neonatal cholestasis and later childhood cirrhosis. A1AT, a glycoprotein synthesised by the liver, accounts for 80% of the serum a{alpha}1-globulin fraction. A1AT is present in more than 20 different codominant alleles, only a few of which are associated with defective protease inhibitors. The most common allele of the protease inhibitor (Pi) system is M, and the normal phenotype is PiMM. The 2 allele predisposes to clinical deficiency; patients with liver disease are usually PiZZ and have serum alpha0-antitrypsin levels less than 2 mg/mL (approximately 10-20% of normal). The incidence of the PiZZ genotype in the white population is estimated at 1:2,0004,000. Intermediate phenotypes PiMS, PiMZ, and PiSZ are not definitively associated with liver disease. The null genotype has no periodic acid-Schiff (PAS)positive inclusions and is not associated with liver disease. Of all PiZZ persons, less than 20% will develop neonatal cholestasis. These patients are indistinguishable from other infants with "idiopathic" neonatal hepatitis, of whom they constitute approximately 500%. In affected patients the course of liver disease is highly variable. Jaundice, acholic stools, and hepatomegaly are present during the 1st
week of life, but the jaundice usually clears during the 2nd-4th months. There may follow complete resolution, persistent liver disease, or the development of cirrhosis. Older children may present with manifestations of chronic liver disease or cirrhosis, with evidence of portal hypertension. Copyright © 2002 Dr Colin Melville Recognised causes of finger clubbing include A carcinoid tumour (False) B ileo-caecal tuberculosis (False) C Cystic fibrosis (True) D iron deficiency anaemia (False) E coeliac disease (True) Comments: Causes of clubbing may be categorised into respiratory (CF, mesothelioma, bronchiectasis, fibrosis, lung carcinoma), Gastroenterological (Lymphoma, Inflammatory bowel disease, cirrhosis) and Cardiac (Cyanotic heart disease, myxoma, bacterial endocarditis). Iron deficiency anaemia causes koilonychia. Antibiotic prophylaxis is indicated for: A caesarean section in a patient with atrial septal defect (False) B dental extraction in a patient with a ventricular septal defect (True) C upper GI endoscopy in a patient with a ventricular septal defect (False) D colonoscopy in a patient with mitral stenosis (True) E colonoscopy in a patient with a prosthetic valve (True) Comments: Guideines from the AHA do not recommend chemoprohylaxsis for the prevention of IE in patients undergoing coronary angiography, TOE, GI scopy and Cesarean sections. However high risk patients like those with prosthetic valve should have
prohylaxis. Lower GI procedures and acquired valvular disease (mitral stenosis) would also require prophylaxis. Coeliac disease has the following characteristic features: A High titres of anti-endomysial antibody (True) B Growth delay (True) C Mouth ulcers (False) D Perianal fistula (False) E Long term risk of adenocarcinoma of the colon (False) Comments: Mouth ulcers and perianal fistulae are characteristics of Crohn's Disease. There may be a long term risk of bowel lymphoma with untreated disease. Copyright © 2002 Dr Colin Melville The following statements are true:
A Wilson's disease can cause cirrhosis in childhood. (True) B Hepatitis A infection can cause mixed conjugated and unconjugated hyperbilirubinaemia. (True) C Biliary atresia is characterised by bile stained vomiting. (False) D Conjugated hyperbilirubinaemia is water soluble. (True) E Hepatic veins drain directly into the portal vein. (False) -------------------------------------------------------------------------------Comments: Conjugated hyperbilirubinaemia is a rare but important finding in the neonate. It accounts for the minority of cases of prolonged jaundice, but is always pathological.
Biliary atresia, neonatal hepatitis syndrome, Wilson's Disease, cystic fibrosis, and alpha0 antitripsin deficiency are all recognised causes. Viral infections, such as CMV, hepatitis A and B, and protozoal infections such as toxoplasma can also cause it. In the latter cases it may be a mixed form, because of partial obstruction to uptake of bilirubin precursors. The hepatic veins leave the posterior surface of the liver and immediately enter the inferior vena cava, while the portal veins drain from the gut. Copyright © 2002 Dr Colin Melville
-------------------------------------------------------------------------------There is a recognised association between cystic fibrosis and:
A B C D E
finger clubbing complete villous atrophy of the jejunal mucosa intestinal obstruction of the newborn rectal prolapse a low concentration of sodium in the sweat
(True) (False) (True) (True) (False)
Comments: Cystic fibrosis may produce clubbing through associated bronchiectasis. Vilous atrophy is a feature of Coeliac disease, whereas CF produces malabsorption through pancreatic exocrine insufficiency. Meconium ileus may be one of the earliest presenting features. The sweat test may be diagnostic with a high sweat sodium concentration of over 60 mmol/l.
The following statements about hepatitis are true: A Hepatitis C rarely leads to a chronic condition. (False) B One single raised antibody titre confirms the diagnosis of hepatitis A. (True) C Hepatitis A vaccine is very effective. (True) D Hbs AB persists for more than 10 years. (True) E Hbe Ag is associated with increased infectivity.
(True) Comments: Hepatitis C is a transfusion-related virus that is causing immense problems to the Blood Transfusion Service. Hepatitis A and E cause acute disease, but B, C and D can all cause chronic hepatitis. Copyright © 2002 Dr Colin Melville Causes of non-infective diarrhoea include: A Lead poisoning (True) B Hyperthyroidism (True) C Hirschprung's disease (True) D Gliadin-sensitivity (True) E Feeding difficulty (True) Comments: Causes include: • Feeding difficulty • Anatomic defects: malrotation, Hirschprung's • Malabsorbtion: CF, coeliac, specific enzyme deficiencies Endocrinopathies: thyrotoxicosis, Addison's, CAH • • Food poisoning: heavy metals, mushrooms • Neoplasms: neuroblastomas, phaeochromocytoma, Zollinger-Ellison, VIP syndrome. • Miscellaneous: milk allergy, Crohn's, familial dysautonomity. Copyright © 2002 Dr Colin Melville Acute pancreatitis is caused by: A Hyperlipoproteinamia Type I (True) B Hypothyroidism (False) C Aminoacidurias (True)
D Infectious mononucleosis (False) E Hypothermia (True) Comments: After cystic fibrosis, acute pancreatitis is probably the most common pancreatic disorder in children. Mumps, other viral illnesses (VZ, EBV), drugs, biliary microlithiasis (sludging), and blunt abdominal injuries account for most known aetiologies; other causes are uncommon. Many cases are of unknown aetiology or are secondary to a systemic disease process. Child abuse is recognised with increased frequency as a cause of traumatic pancreatitis in young children. Defined causes of pancreatitis include the haemolytic uraemic syndrome, Kawasaki syndrome, refeeding after starvation, pancreas divisum, bone marrow transplantation, brain tumour, head trauma, hypertriglyceridaemia and methylmalonic acidaemia. See Table 2970 Nelson. Copyright © 2002 Dr Colin Melville Concerning apolipoprotein: A It is a major component of low density lipoprotein. (True) B It is coded by different genes in the liver and gut. (True) C RNA splicing is responsible for the different liver and gut forms. (True) D Polymorphism increases coronary artery disease risk. (True) E It is a phospholipid. (True) Comments: Cholesterol and triglycerides are transported in the circulation in macromolecular complexes termed lipoproteins; the protein components of the complexes are called apolipoproteins. Dietary lipoproteins (chylomicrons) are formed in and secreted by the small intestine; other lipoproteins (e.g., very low density lipoproteins, VLDL) are synthesised in the liver; still others (high density lipoproteins, HDL) are secreted as nascent particles by the liver and small intestine, and only reach their mature form in the circulation after exchange of components with other circulating lipoproteins or with tissues. The liver secretes a class of lipoproteins called very low density lipoprotein, which contain free and esterified cholesterol, triglycerides, phospholipids,
and a characteristic set of apolipoproteins, notably apoB000, apoC, and apoE. Like chylomicrons, VLDL exchange apolipoproteins with other circulating particles and deliver triglycerides to adipose tissue via lipoprotein lipase. In the process, they become smaller and more dense and are termed VLDL remnants or intermediate density lipoproteins. Abetalipoproteinemia is a rare autosomal recessive disorder that is characterised in childhood by fat malabsorption and diarrhoea, retinitis pigmentosa, cerebellar ataxia, and acanthocytosis. Homozygotes for abetalipoproteinemia lack all forms of apoB in their plasma and therefore have no detectable chylomicrons, VLDL, or LDL; their plasma cholesterol and triglyceride levels are extremely low (both usually <30 mg/dL). Heterozygotes have no apparent clinical or biochemical abnormalities. Copyright © 2002 Dr Colin Melville A girl of 16 years who has suffered from cystic fibrosis from early childhood is admitted to hospital with a haematemesis. Examination is likely to reveal the following signs
A B C D E
clubbing of the fingers tenderness in the epigastrium absenc of bowel sounds enlargement of the spleen distension of the abdomen
(True) (False) (False) (True) (True)
Comments: a-easy, d+e-the cause is oesophageal varices 2° to cirrhosis + portal hypertension
In a child whose jaundice begins at less than 24 hours of age, the following diagnosis should be considered: A CMV infection (True) B ABO incompatibility (True) C Hereditary spherocytosis (True) D Hypothyroidism (False) E High gastrointestinal obstruction
(False) Comments: Causes of neonatal jaundice include: • LESS THAN 24 HOURS: Haemolytic disease (Rhesus, ABO, enzyme or red cell membrane defects), congenital infection. • 24 HOURS - TWO WEEKS: Physiological, breast milk, infection (e.g. urinary tract infection), haemolysis (as above), bruising, polycythaemia, Crigler-Najjar Syndrome. GREATER THAN TWO WEEKS: • • Unconjugated - physiological or breast milk, infection (particularly urinary tract infection), hypothyroidism, haemolysis, high gastrointestinal obstruction. Conjugated (>10% total bilirubin) - bile duct obstruction, e.g. biliary • atresia, neonatal hepatitis. Copyright © 2002 Dr Colin Melville The following are seen in Crohn's disease: A dermatitis herpetiformis (False) B steatorrhoea (True) C pyoderma gangrenosum (True) D haemolytic anaemia following sulphasalazine treatment (True) E erythema nodosum (True) Comments: Dermatitis herpetiformis is a manifestation of coeliac disease. Fat malabsorption may be afeature of crohn's with Erythema nodosum and pyoderma gangrenosum being cutaneous manifestations. Oligoarthritis with Sacroilitis and iritis may also feature. Sulphasalazine can produce a number of haematological problems in particular thrombocytopaenia, leucopaenia but haemolysis can occur The following are true regarding the diagnosis of cow's milk intolerance: A Skin tests usually confirm the diagnosis. (False) B RAST test of >grade 2 makes the diagnosis highly likely.
(False) C Bloody diarrhoea excludes the diagnosis. (False) D It is rare in breast fed infants. (True) E Rechallenge should be extremely cautious in the young infant. (True) Comments: The diagnosis of dietary protein allergy is clinical. Acute symptoms should subside within 48 hours and chronic symptoms within one week of complete withdrawal of the offending antigen. Caution and judgement must be exercised in rechallenging these patients, particularly in infants. Unfortunately, skin tests and circulating antibody titres, complement assays and coproantibody titres are not of proven diagnostic value. In children with chronic symptoms, mucosal biopsy may be used to evaluate the response to challenge. Between 25 and 50% of children intolerant to cow's milk will become intolerant to soy milk in due course. Prolonged breast feeding reduces the likelihood of cow's milk intolerance, but maternal cow's milk ingestion can sensitise the infant. Copyright © 2002 Dr Colin Melville Intussusception
AIs a common cause of intestinal obstruction between 6 and (True) 18 months of age. B Usually occurs in the jejunum. (False) C Precipitants may include an inflamed Peyer's patch. (True) D Presents with few clinical signs. (False) E Has a characteristic 'doughnut' appearance on ultrasound. (True) Comments: Intussusception is the commonest cause of intestinal obstruction in the 6 to 18 month age group. It often occurs in the distal ileum with an ileo-colic intussusception being the most common type. Precipitants may include an inflamed Peyer's patch or a Meckel's diverticulum. The infants usually present with severe intermittent colic, bile-stained vomiting, rectal bleeding and 30% have a 'sausageshaped' abdominal mass. The diagnosis can often be confirmed by a 'doughnut' appearance on ultrasound.
Compared with bottle feeding, breast feeding is relatively protective against: A Late haemorrhagic disease of the newborn (False) B Maternal breast cancer (True) C Late onset diabetes (False) D Prolonged jaundice (False) E Under-feeding (False) Comments: Breast fed infants have a reduced risk of infection, though the effect is less in industrialised societies. The protective effect is increased for low birth weight infants. There may also be improved cognitive and psychological development, reduced risk of juvenile onset diabetes, and reduced risk of maternal breast cancer. Disadvantages of breast feeding includes social limitations, unrecognised underfeeding (rare), late haemorrhagic disease of the newborn, and breast milk jaundice. Copyright © 2002 Dr Colin Melville The following applies to Rotavirus gastroenteritis: A It typically affects infants older than 18 months (False) B The Rotazyme test to detect virus particles is a direct enzyme-linked immunosorbent assay (True) C Blood and mucus is found in the stools of about 50% of affected babies (False) D It occurs most often in the summer months (False) E Protection is not conferred by breast feeding (False) Comments: The peak incidence of Rota virus infection is 3-15 months. ELISA is performed on the stool samples to detect virus particles. Watery diarrhoea is common and blood and mucus is rare. Epidemics occur in the cooler months. Breast feeding protects against Rotavirus diarrhoea and other infections eg pneumonia.
Amyloid plaques: A Have a fibrillary structure. (True) B May occur in multiple myeloma. (True) C May occur in Familial Mediterranean Fever (FMF). (True) D Are predominantly composed of carbohydrate. (False) E May contain calcitonin (False) Comments: Fifteen different protein fibrils. Related to: Familial Mediterranean fever } Commonest causes • • Chronic inflammation. } in children Familial amyloidosis. • • Multiple myeloma and macroglobulinaemia. • Ageing (Alzheimer's) Copyright © 2002 Dr Colin Melville Which of the following statements concerning retinoblastoma are correct?
A is usually fatal even if diagnosis is made early (False) B the tumour is inheritable (True) C may occur bilaterally (True) D the finding of leucorrhoea suggests the diagnosis (False) E it may present with heterochromia iris (True) -------------------------------------------------------------------------------Comments: Retinoblastoma is a tumour of the immature retina usually affecting children less than 5 years old. In the inherited form of the disorder, the so-called Rb 1 gene is
deleted from Chromosome 13. It may be bilateral in up to 30%. With early diagnosis, prognosis is excellent with up to 90% survival. Enucleation is the treatment of choice with bilateral disease requiring radiotherapy/chemotherapy. Leucocoria (white reflex) not leucorrhoea is a feature of retinoblastoma. Different colour iris (Heterochromia iridis) is also a feature. -------------------------------------------------------------------------------Kernicterus A invariably appears after 3 weeks of age (False) B can be due to glucuronyl transferase deficiency (True) C stains the basal ganglia (True) D is due to conjugated hyperbiliubinaemia (False) E causes convulsions (True) Comments: 1.usually appears earlier 2.glucuronyl transferase deficiency causes “physiological” jaundice which can cause kernicterus 3.stains with unconjugated bilirubin which is fat soluble 4.is due to unconjugated hyperbilirubinaemia 5.a recognised manifestation of kernicterus 4. Daily requirements for a newborn child are: A 3mmol/kg sodium (True) B 2mmol/kg of potassium (True) C 0.8mmol/kg calcium (True) D 100ml/kg water (True) E 1400IU/kg Vitamin D (False) Comments:
The easiest way to remember these is to think of what 100ml of breast milk or formula contains. Alternatively, think of what you put in TPN for a newborn baby. The Vitamin D requirement is somewhere between about 300 and 400 international units per kilogram per day. Infestation with the following parasites may lead to anaemia:
A B C D E
Taenia saginata Ankylostoma duodenale Wuchereria bancrofti Schistosoma haematobium Ascaris lumbricoides
(False) (True) (False) (True) (False)
Comments: Tapeworms do not usually cause anaemia and are geenrally asymptomatic. Heavy infestation can rarely be associated with obstruction. b-chronic GI bleeding. Schistosomiasis is associated with chronic haematuria and is a recognised cause of bladder cancer. W. Bancrofti causes filiariasis, in which eosinophilia is typical.
Alternative names Return to top Teniasis; Pork tapeworm; Beef tapeworm; Tapeworm; Taenia saginata; Taenia solium Definition Return to top Taeniasis is a tapeworm infection. Causes, incidence, and risk factors Return to top Tapeworm infection is acquired by eating raw or undercooked meat of infected animals. Beef generally carry Taenia saginata while pigs carry Taenia solium. The larvae from the infected meat develop in the human intestine into the adult tapeworm -- which grows and can attain lengths greater than 12 feet. Tapeworms are segmented, with each segment (proglottid) capable of producing eggs. Eggs are dispersed by individual or groups of proglottids detaching and passing out with the stool. The groups of proglottids from the beef tapeworm are capable of movement and actively crawl out through the anus. Adults and children with tapeworm ( T. solium, pork tapeworm only) can, if appropriate hygiene is lacking, become self-infected by ingesting eggs from their tapeworm which were picked up on their hands while wiping or scratching the anus.
Additionally, these individuals can expose other individuals to T. solium eggs, usually via food handling. Ingested eggs hatch in the intestinal track and the larvae migrate through the tissues, where they encyst. If larvae migrate to the brain, they can cause seizures and other neurological problems. This condition is called cysticercosis. Certain freshwater fish and salmon may also carry a tapeworm called Diphyllobothrium latum (see diphyllobothriasis ). Symptoms Return to top Tapeworm infestation does not usually cause any symptoms. Infection is generally recognized when the infected person passes segments of proglottids in the stool, especially if the segment is moving. Signs and tests Return to top stool examined for ova (eggs) of Taenia solium or Taenia saginata • • segments of worm, "proglottids," may also be visible in stool Taenia saginata proglottids may move around visibly • Treatment Return to top Tapeworms are treated with oral medications, usually in a single dose. The drug of choice for tapeworm infections is niclosamide. Praziquantel and albendazole can also be used. Expectations (prognosis) Return to top Complete eradication of the tapeworm occurs following treatment. Complications Return to top • self-infection with tapeworm eggs -- cysticercosis ( T. solium only), which may cause seizures • rarely, worms may cause obstruction of the intestine Calling your health care provider Return to top Call for an appointment with your health care provider if you pass something in your stool that looks like a white worm. Prevention Return to top In the U.S., laws governing feeding practices and inspection of domestic food animals have largely eliminated the problem of tapeworm. Adequate cooking of meat destroys the tapeworm larvae and will prevent infection by tapeworm. Good hygiene and hand washing after using the toilet will prevent self-infection in a person already infected with tapeworms. Update Date: 11/18/2003 Alpha 1 antitrypsin:
A is an acute phase glycoprotein (True) B is a normal serum protein (True) C is produced in the liver (True) D heterozygotes develop cirrhosis if they take alcohol (True) E homozygotes develop emphysema (True) Comments: a-M is normal gene, 2 main deficient genes S (60% production) and Z (15%) d-PiMZ or PiMS. e-PiZZ develop emphysema even if they don't smoke. (OTM 3e, 11.15) Congenital chloridorrhoea: A Is inherited as an Autosomal Dominant. (False) B Causes maternal oligohydramnios. (False) C Chloride content of the stools are typically less than 70 mmol/l. (False) D Can be compatible with normal life span. (True) E Needs to be treated only during the first few years of life. (False) Comments: This rare specific AR defect of ileal chloride transport is associated with maternal polyhydramnios. The dominant symptom is severe watery diarrhoea beginning at birth, the result of accumulation of chloride ion in the intestinal lumen. Watery diarrhoea leads to dehydration and a severe electrolyte disturbance characterised by hypokalaemia, hypochloraemia, and alkalosis, a most unusual pattern for a child with chronic diarrhoea. Other aspects of intestinal absorption are normal. Stools contain chloride in excess of the sum of sodium and potassium. There is no adequate treatment. Potassium supplements and some restriction of chloride intake are advisable. Copyright © 2002 Dr Colin Melville In infantile hypertrophic pyloric stenosis: A Boys outnumber girls by 4:1
(True) B Vomiting typically starts at 2 to 4 weeks (True) C Vomitus is bile-stained (False) D Babies refuse to suck (False) E There is often a hypochloraemic hypokalaemic alkalosis (True) Comments: The male to female ratio is 4:1. The clinical symptoms commonly appear in this time frame. The vomiting is not bile-stained but consists of large volumes of curdled milk. Appetite, and feeding are normal or increased. The characteristic metabolic abnormality is hypochloraemic hypokalaemic alkalosis. In a young adult, persistent vomiting can result in the following: A Low serum chloride. (True) B Increased urinary potassium excretion (True) C Increased serum urea (True) D Hypocalcaemia (True) E Inappropriately alkalinised urine (True) Comments: Three basic mechanisms may produce metabolic alkalosis: excessive loss of hydrogen ion, as in prolonged gastric aspiration or persistent vomiting associated with pyloric stenosis; increased addition of bicarbonate to the extracellular fluid, which may result from excessive administration by the parenteral route or by oral intake, as in the milk-alkali syndrome, or from increased renal reabsorption of bicarbonate caused by profound potassium depletion, primary hyperaldosteronism, Cushing syndrome, Bartter syndrome, or excessive intake of liquorice; and contraction of the extracellular fluid volume, which increases bicarbonate concentration in this fluid space and increases bicarbonate reabsorption in the proximal tubule. Low chloride and alkalosis result from loss of HCl from the stomach. Potassium is exchanged a the distal tubule for H + in alkalosis, producing an alkaline
urine. Patients may have cramps or feel weak and may have the signs of tetany if ionised calcium has been reduced by the alkalosis. Copyright © 2002 Dr Colin Melville Jaundice during the first few weeks of life may be due to: A thalassaemia (False) B cytomegalovirus (True) C toxoplasmosis (True) D anoxia (False) E congenital biliary atresia (True) Comments: 1.the jaundice usually starts at the age of about 3 months because haemoglobin F is still the predominant haemoglobin in neonates. 2& 3. Congenitally acquired CMV and toxoplasmosis infection cause jaundice, purpura and hepatosplenomegaly 5. here the jaundice is due to a conjugated hyperbilirubinaemia Which of the following is correct regarding oesophageal atresia. A Oesophageal atresia is frequently associated with tracheo-oesophageal fistula. (True) B Often present prenatally with oligohydramnios. (False) C Postnatally presents with difficulty swallowing and aspiration. (True) D The diagnosis my be confirmed by the inability to pass a nasogastric catheter. (True) E Radiological evidence of gas in the stomach confirms the presence of distal tracheooesophageal fistula. (True) Comments: Oesophageal atresia is often associated with tracheo-oesophageal fistula (TOF). Approximately 90% of patients have a proximal TOF between the upper oesophagus and trachea. Polyhydramnios may be present prenatally. After birth the diagnosis may be confirmed by the inability to pass a nasogastric tube more than 10 cm. If
doubt continues the diagnosis can be confirmed by passing a small volume of watersoluble contrast down the tube. Radiological evidence of gas in the stomach confirms a distal TOF. Primary repair of the atresia is possible in a significant proportion of neonates Acute infective diarrhoea in the UK: A Is caused by rotavirus in 20- 30% of cases in children (False) B Pus cells and erythrocytes are found in cholera (False) C Caused by cryptosporidium is a recognised gastro-intestinal manifestation of HIV infection (True) D Caused by E. Coli spp can be due to mucosal invasion as well as enterotoxin production (True) E Caused by campylobacter has an incubation period of 1-5 days (True) Comments: In the UK, most gastroenteritis is due to rotavirus. Cholera is toxin-mediated. Pus and red cells suggest dysentery (e.g. salmonella, campylobacter, E.Coli, shigella). Cryptosporidium in HIV can lead to prolonged massive watery diarrhoea that may be fatal (self-limiting illness in healthy individuals). E. Coli can affect the gut in many ways, and the following types are well recognised. Enterotoxigenic (ETEC), Enteroinvasive (EIEC), Enteropathogenic (EPEC), Enterohaemorrhagic (EHEC)0107 - HUS related Enteroaggregative (EAggEc). Copyright © 2002 Dr Colin Melville The following foreign bodies in the oesophagus should be removed as an emergency: A Open safety pins (True) B Hair balls (False) C One pence coin (False) D Small plastic soldier (False) E Disc battery (True)
Comments: If a foreign body is stuck in the oesophagus it should be removed under direct vision. X-rays should be repeated just prior to the procedure to make sure that the foreign body has not passed into the stomach or been vomited. Sharp objects, such as open safety pins, should be removed as an emergency, and disc batteries can cause corrosive injury to the oesophagus within 4 hours, so the same applies to them. Asymptomatic coins can be observed for 24 hours, and watched expectantly. Hairballs are unlikely to stick in the oesophagus. Copyright © 2002 Dr Colin Melville The following are characteristic of gluten enteropathy: A Dermatitis herpetiformis (True) B Hyposplenism (False) C Mucosal ulceration (False) D Constipation (False) E Increased risk of oesophageal carcinoma (False) Comments: The mode of presentation of coeliac disease is variable; the majority present with diarrhoea. Children can have failure to thrive or vomiting as the only manifestation. Perhaps as many as 10% of children referred to endocrinologists for growth retardation without an endocrine or overt gastrointestinal disorder have gluten sensitivity. Anorexia is common and may be the major cause of weight loss or lack of weight gain. Infants with gluten-sensitive enteropathy are often, but not always, clingy, irritable, unhappy children who are difficult to comfort. In contrast to infants with cystic fibrosis, they are not interested in food, although this is not always the case. Pallor and abdominal distension are common . Large, bulky stools suggestive of constipation have been described in some children with this condition. Digital clubbing can occur. There is an increased prevalence of gluten-sensitive enteropathy in children with selective IgA deficiency or diabetes mellitus compared with unaffected children. Lymphocytic gastritis occurs rarely. Appropriately-diagnosed gluten-sensitive enteropathy is a lifelong condition requiring lifelong treatment. The late development of bowel lymphoma in long-standing enteropathy, especially with poor adherence to diet, is possible although controversial. Dermatitis herpetiformis is seen most commonly in children 2-7 yr of age. It is characterised by symmetric,
grouped, small, tense, erythematous, stinging, intensely pruritic papules and vesicles. Aetiology is unknown; however, an association with gluten-sensitive enteropathy is found in 75-90% of patients. Aggressive gluten challenge generally unmasks the condition in the remainder of patients with dermatitis herpetiformis. Copyright © 2002 Dr Colin Melville Intussusception in childhood: A is characterised by screaming attacks with pallor (True) B has, as the earliest sign, the passage of red-currant jelly stools (False) C has a peak incidence in the first two months of life (False) D is accompanied by enlargement of mesenteric lymph nodes (True) E may be caused by an adenovirus infection (True) Comments: Intussusception is a condition associated with the prolapse of one part of the bowel into an adjacent region. It is most common in children 3 - 12 months, more frequently in males (3:1) and although most cases are idiopathic conditions such as intestinal lymphadenopathy (adenovirus) may predispose. Symptoms include paroxysms of abdominal pain with pallor, vomiting and initially loose watery stools. Later, redcurrent jelly stools occur. In cystic fibrosis: A 1:2000 of all births are affected (True) B meconium ileus is a common presenting feature (True) C all newborn infants are now screened in the UK (False) D immunisation against measles is contra-indicated (False) E diabetes mellitus may occur in adolescence (True) Comments: CF has an incidence of approx 1:2000 births with a gene frequency of 1:20 of the
population. The deltaF508 mutation being the commonest. Meconium ileus may be a presenting feature in neonates. Pancreatic exocrine deficiency is common as a complication of blockage of the pancreatic ducts, but later, diabetes mellitus may occur. Untreated ulcerative colitis (UC) is associated with A Vitamin B12 deficiency (False) B High platelet count (True) C A positive Coomb's test (False) D Photosensitivity (False) E Episcleritis (True) Comments: UC only affects the colon, except for the rare backwash ileitis. Thrombocytosis may be a non-specific sign of inflammation. Extra-intestinal manifestations tend to occur slightly more commonly with Crohn's disease than with ulcerative colitis. Growth retardation may be seen in 10-35% of individuals at diagnosis. Of the extra-intestinal manifestations that occur with IBD, joint, skin, eye, mouth, and hepato-biliary involvement tend to be associated with colitis whether ulcerative or Crohn's colitis. Correlation with bowel disease: Yes: peripheral arthritis, erythema nodosum, and anaemia. Maybe: pyoderma gangrenosum No: sclerosing cholangitis, ankylosing spondylitis, and sacro-iliitis, uveitis. Arthritis may be associated with F-positive antinuclear antibodies. Among the skin manifestations, erythema nodosum is most common. Individuals with erythema nodosum or pyoderma gangrenosum have a high likelihood of having arthritis as well. Glomerulonephritis and a hypercoagulable state are other rare manifestations that occur in childhood. Cerebral thromboembolic disease has been described in children with IBD. Uveitis occurs in about 5% of children with IBD and is usually asymptomatic and transient. Copyright © 2002 Dr Colin Melville Malabsorption syndromes with a primary mucosal abnormality include: A pancreatic insufficiency (False) B Crohn's disease (True)
C abetalipoproteinaemia (True) D blind-loop syndrome (False) E coeliac disease (True) Comments: Malabsorption due to pancreatic insufficiency is due to inadequate digestion and blind loop syndromes cause abnormal bacterial proliferation with impaired micelle formation. The following statements are true regarding copper metabolism:
A It is essential for the production of red blood cells. (True) B It is involved in the regulation of blood sugar and insulin metabolism. (False) C Deficiency results in a tendency to dental caries. (False) D Deficiency may result in neutropenia. (True) E Toxicity may result in cirrhosis. (True) -------------------------------------------------------------------------------Comments: Copper is essential for the production of red blood cells; transferrin, haemoglobin formation; absorption of iron, activities of tyrosinase, catylase, urecase, cytochrome c-oxydase, 8-aminolevulinc acid, dehydrase, lisaloxydase. It is absorbed with sulphur rich proteins, transported bound to alpha-g globulins through the plasmin; is present in erythrocytes in labile form and a more stable haemocuprine; has its highest concentration in the liver and central nervous system and is excreted mainly via the intestinal wall and the bile. Deranged metabolism is found in Wilson's Disease (hepatoventricular degeneration and Menke's Syndrome). Deficiency may cause refractory anaemia, osteoporosis, neutropenia, depigmentation, delayed bone age, bone infractions, pseudoparalysis and ataxia
with an increase in serum cholesterol. Excess copper can result in cirrhosis, gastritis and haemolysis. The main dietary sources are liver, oysters, meats, fish, wholegrains, nuts and legumes. Chromium is involved in glycaemia regulation and insulin metabolism, and deficiency may cause diabetes in animals. It is found mainly in yeasts. Flourine deficiency results in a tendency to dental caries. Copper deficiency is a favoured defence in non-accidental injury cases. Copyright © 2002 Dr Colin Melville -------------------------------------------------------------------------------Gastro-oesophageal reflux (GOR) disease in children: A May present with opisthotomus. (True) B May be exacerbated by cardiomegaly. (True) C May be treated with proton pump inhibitors when refractory to other treatment (True) D May lead to Barrett's ulcers (True) E May present with croup. (True) Comments: In Sandifer's Syndrome GOR causes opisthotomus and head posturing. In children with recurrent croup with no infective symptoms, GOR should be considered. Severe oesophagitis may require proton pump inhibitors. Cardiomegaly may result in troublesome gastro-oesophageal reflux. Barrett's ulcers result from chronic GOR causing metaplasia of oesophagus to gastric epithelium. Copyright © 2002 Dr Colin Melville
The following are associated with Wilms' tumour: A cryptorchidism. (True) B hypospadius. (True) C horseshoe kidney. (True) D hemihypertophy.
(True) E aniridia. (True) Comments: Children with Wilms' tumour are more likely to have aniridia, hemihypertrophy, genital abnormalities (hypospadius, cryptorchidism) and renal anomalies. From Hannam et al. MRCP (Paediatrics) Part 1 MCQs. page 63 © WB Saunders. Reproduced with permission. The following findings are suggestive of Crohn's disease rather than ulcerative colitis:
A Perianal skin tags (True) B Skip lesions on barium meal (True) C Presence of non-caseating granulomata on colonic (True) biopsy D Arthralgia E ESR of 74 (False) Comments: FEATURES OF CROHN'S DISEASE: Rectal bleeding - sometimes Abdominal mass - common Rectal disease - occasional Ileal involvement - common Perianal disease - common Strictures - common Fistula - common Skip lesions - common Transmural involvement - common Crypt abscesses - less common Granulomas - common Risk of colonic cancer - slightly increased FEATURES OF ULCERATIVE COLITIS: Rectal bleeding - common Abdominal mass - not present Rectal disease - nearly universal Ileal involvement - none (backwash ileitis)
(F
Perianal disease - unusual Strictures - unusual Fistula - unusual Skip lesions - unusual Trasmural involvement - unusual Crypt abscesses - common Granulomas - unusual Risk of colonic cancer - greatly increased. Copyright © 2002 Dr Colin Melville
Gastroenteritis: A In infancy may be caused by type specific streptococcus faecalis (FG 012H) (False) B In infancy may be caused by giardia lamblia (True) C May cause secondary disaccharide intolerance (True) D May cause hypokalaemic acidosis (True) E May cause hypernatraemia (True) Comments: Gastroenteritis is not caused by strep faecalis, but E.Coli O157:H7 is a cause of haemorrhagic colitis and can affect any age group. Giardia Lamblia and Entamoeba histolytica are rare causes. Gastroenteritis, particularly viral gastroenteritis may damage the intestinal mucosa sufficiently to reduce the levels of the ‘lactase’ enzyme. Electrolyte imbalances and metabolic acidosis can develop and cause behavioural disturbances and rarely arrhythmias. Hypernatraemia may develop from disproportionate water loss. In the investigation of oesophageal disease with manometry: A The procedure is best performed over 24 hours. (False) B The procedure is useful in differentiating between achalasia and diffuse oesophageal spasm. (True) C The procedure is valuable in determining appropriate treatment for achalasia.
(False) D The procedure is more useful than pH testing in the investigation of non-cardiac chest pain. (False) E The patient usually does not require sedation. (True) Comments: Oesophageal manometry permits evaluation of pressure waves in the oesophagus, as well as pressure changes in the lower oesophageal sphincter, which are decreased in reflux oesophagitis and increased in achalasia. Achalasia may be confirmed with oesophageal manometry, in which the major findings are incomplete or absent relaxation of the lower oesophageal sphincter with swallowing, a lack of primary or secondary propulsive peristaltic waves in the oesophagus, and usually an increased lower oesophageal sphincter pressure. Diffuse oesophageal spasm may be a cause of chest pain and dysphagia in adolescents. This primary motility disorder has characteristic oesophageal contractions noted on manometry simultaneously with midchest, retrosternal pain after swallowing liquids. Tensilon testing may provoke pain. Treatment is usually not needed, except in more severe cases, in which nitrates or calcium channel blocking agents have been successful. Non-cardiac chest pain is most likely to be due to oesophageal reflux, for which a pH study is more appropriate. Copyright © 2002 Dr Colin Melville
A male child weight 4.2kgis admitted at age 4 weeks with a one week history of forceful vomiting after feeds. He is alert and eager for food but exhibits a loss of skin elasticity and has apparent distension in the left hypochondrium: A The most likely diagnosis is hiatus hernia
(False)
B He has hyperosmolar dehydration
(False)
C Characteristically he will have hypokalaemia
(True)
D Initial fluid replacement should comprise normal saline 10-20 ml/kg in one hour
(True)
E He should be started on a n anticholinergic drug, e.g. Atropine Methylnitrate (Eumydrin), before feeds
(False)
Comments: The most likely diagnosis is pyloric s tenosis, which is more common in males (4:1 M:F ratio)and characteristically presents 2-6 weeks after birth. This situation will cause a proportionate loss of fluid and electrolytes. Characteristically he will have hypokalaemic, hypochloraemic metabolic alkalosis. Initial resuscitation should be with normal saline, at twice the maintenance volume. This will ensure he is volume replete and prevent secondary activation of the renin/aldosterone system, which would cause
more alkalosis and hypokalaemia. Once volume replete, the fluid can be changed to half strength saline with added potassium. Although there are a few emerging reports s howing satisfactory short term and long term outcome with medical treatment, the preferred treatment is currently pylorotomy. This should be performed after successful resuscitation and electrolyte correction.
In the diarrhoea associated with cholera toxin, there is activation of the following enzyme systems: A Guanylate cyclase.
(False)
B ATP.
(False)
C Adenylate cyclase.
(True)
D Na-glucose co-transporter.
(False)
E Na+/K+ ATPase pump.
(False)
Comments: Cholera toxin has two parts, A and B. B binds while A activates G protein, which activates adenylate cyclase. Elevated CAMP results in unrestricted chloride secretion from villous crypts. Copyright © 2002 Dr Colin Melville
Cows’ milk allergy in infants: A Is a common cause of diarrhoea and failure to thrive
(True)
B Has usually resolved by the age of 2 years
(True)
C Should contraindicate MMR vaccination
(False)
D Can cause infantile convulsions
(False)
E In 20% of cases it is associated with soya milk allergy
(True)
Comments: Cows milk protein allergy can manifest as ‘immediate’ hypersensitivity, and this shows up on skin prick testing or as delayed type hypersensitvity which c auses diarrhoea and failure to thrive. It is usually a selflimiting condition. Egg protein allergy is a contraindication to MMR. Eczema, abdominal pain , diarrhoea and rarely acute anaphylactic reactions may occur but not convulsions. Dairy products, soya products, casein, whey and lactalbumin, should all be avoided because of associated hypersensitivity.
The following statements concerning acute gastroenteritis in childhood are correct A intravenous fluid therapy is essential
(False)
B loperamide should be avoided
(True)
C the commonest causes of failure to thrive following an attack is persistent bacterial infection
(False)
D septicaemia is a recognised feature of salmonella gastroenteritis in the neonatal period
(True)
E breast feeding should be continued throughout the illness
(True)
Comments: Intavenous therapy is not essential particularly if patients can keep up with fluid losses. Generally loperamide should be avoided in infective diarrhoea. The commonest cause of failuer to thrive after an infective episode may be due to persistent viral infection or malabsorptiondue to lactose intolerance or Cow’s milk allergy. It would be unusual for it to be a consequence of persisting bacterial infection which is generally cleared. Septicaemia occurs in 2-5% of cases with a higher incidence in neonates. Breast feeding is an imprtant strategy to prevent gastroenteritis.
The following may be found in the event of a prolonged bout of vomiting: A tetany
(True)
B hypochlorhydria
(True)
C megaloblastic anaemia
(False)
D hypokalaemia
(True)
E high serum aldosterone
(True)
Comments: a) Metabolic alkalosis. b)If you vomit acid then you must have less of it in the stomach. c)Even in bulimia if there is an anaemia it is usually normochromic normocytic (and iron deficient). d-Gastric loss and from + the kidney because of lack of competition with H ions. e) To preserve salt and water.
Coeliac disease (gluten induced enteropathy): A Presenting in infancy commonly remits in later childhood
(False)
B About 80% of coeliac patients carry the histo-compatibility antigen HLA-B8
(True)
C Is not provoked by rice or potatoes
(True)
D Results in both villous and crypt atrophy
(False)
E May produce abdominal distension
(True)
Comments: Gluten sensitive enteropathy is a lifelong condition. The associated haplotype is HLA-B8/DR3/DQW2. The disease is provoked by gluten, a general term applied to storage proteins which are specifically present in wheat, rye, barley and oa ts. These storage proteins are not present in rice or potatoes. The disease results in subtotal or total villous atrophy, with crypt hyperplasia. Abdominal distension and bloating are common.
Intussesception in children: A Is more common between the age of 3 months to 3 years
(True)
B Bile stain vomiting is an early feature
(False)
C Bleeding per rectum is the most common presenting symptom
(False)
D Is usually caused by a polyp or pedunculated tumour
(False)
E Hydrostatic reduction plays an important role in the management
(True)
Comments: Intussesception in children can occur between 3 months and six years of age, but it is more common in the first 3 years. Colicky abdominal pain, straining and lethargy are clinical features. Bloody mucus and vomiting occur late when the bowel becomes strangulated and ischaemic. The condition involves the telescoping of one segment of the bowel into an adjacent segment. Most cases are idiopathic, however in a minority of cases there is a ‘mechanical leading segment’which predisposes to the abnormality eg polyposis, Peutz-Jegher’s syndrome.A contrast enema is therapeutic in most cases which present within 24 hours.
Which of the following is/are true of Hirschsprung’s disease: A It is seldom diagnosed on the first day o f life
(True)
B The condition is commoner in girls
(False)
C It may present with diarrhoea
(True)
D There is delayed appearance of changing stool
(True)
E Symptoms may not present until potty training
(False)
Comments: In the newborn failure to pass meconium may be the first clinical sign, but it willmanifest after 24-48hours. There is a male preponderance and the condition is more often seen in infants with Down’s syndrome. Enterocolitis may develop. Intermittent constipation, diarrhoea and abdominal distension may occur and such symptoms occur early infancy.
The following applies to Rotavirus gastroenteritis: A It typically affects infants older than 18 months
(False)
B The Rotazyme test to detect virus particles is a direct enzyme-linked immunosorbent assay
(True)
C Blood and mucus is found in the stools of about 50% of affected babies
(False)
D It occurs most often in the summer months
(False)
E Protection is not conferred by breast feeding
(False)
Comments: The peak incidence of Rota virus infection is 3 -15 months. ELISA is performed on the stool samples to detect virus particles. Watery diarrhoea is common and blood and mucus is rare. Epidemics occur in the
cooler months. Breast feeding protects against Rota virus diarrhoea and other infections eg pneumonia.
Diarrhoea: A In infants may be caused by aden ovirus infection
(True)
B May be a manifestation of Munchausen by proxy syndrome
(True)
C Should always by investigated by stool culture and microscopy
(False)
D May be treated with Erythromycin when caused by c ampylobacter jejuni
(True)
E Treated with anti-diarrhoeal agents can lead to respiratory depression in children
(True)
Comments: Diarrhoea may be a manifestation of a systemic viral infection as with adenovirus. Erythromycin is used in the treatment of campylobacter. Diarrhoea may be a falsely reported unwitnessed phenomenon or the result of parental feeding habits. Short episodes often self resolve and seldom require investigation. Inhibitors of intestinal motility can contain opiates and opiate like compounds which can cause respiratory depression, paralytic ileus and bacterial overgrowth.
Congenital diaphragmatic hernia A Usually occur through the foramen of Bochdalek
(True)
B Are more common on the right than the left
(False)
C Are rarely associated with other congenital anomalies
(False)
D Frequently present with respiratory distress.
(True)
E May be diagnosed readily on a plain X-ray.
(True)
Comments: Congenital diaphragmatic hernias occur in approximately 1 in 4,000 live births. 90% occur in the posterior portion of the diaphragm through the foramen of Bochdalek and 90% occ ur on the left. The commonest clinical presentation is with respiratory distress in the neonatal p eriod and due pulmonary hypoplasia and compression. The abdomen often has a scaphoid appearance. About 40% of patients have as sociated congenital anomalies. The diagnosis can be confirmed radiologically with bowel loops seen in the chest. Neonates usually require sedation, ventilation and intestinal decompression prior to surgery between 36 and 72 hours after birth.
Human milk contains more of the following than cows' milk formula. A Lactalbumin
(True)
B Calcium
(False)
C Iron
(False)
D Folic acid
(False)
E Sodium
(False)
Comments: Cow's milk formula has been adjusted to have a similar amount of lactalbumin to breast milk. Copyright © 2002 Dr Colin Melville
Helicobacter pylori :
A Can cause duodenitis.
(True)
B Is the most common cause of gastric ulceration in childhood.
(True)
C Can be diagnosed by hydrogen b reath test.
(True)
D Is easily visible on endoscopic biopsies with haematoxalin and eosin staining.
(True)
E Is successfully treated with antibiotics and omeprazole.
(True)
Comments: H. pylori is now generally accepted as one of the most common causes of acute and chronic antral gastritis. It is also associated with peptic ulcer disease, gastric carcinoma, and lymphoma, although the association with the cancer is still open to debate. The term peptic ulcer disease is used to encompass gastric and duodenal ulcers. Peptic ulcer disease is uncommon in children; the true incidence in childhood is unknown. Although H. pylori is seen in 50-80% of adults with gastric ulcer, its role in gastric ulcers in children is not clear. H. pylori plays a significant role in duodenal ulcers in children and adults and is demonstrated in the gastric antrum in 90% of these patients. 13
14
The urea breath test uses C- or C-labelled urea and measures the release of radiolabelled CO2 in the breath after the ingestion of these compounds. This test reportedly has a sensitivity of 97% and a specificity of 100%; it also can be used to follow the response to therapy. H.pylori can be demonstrated in tissue by Gram stain, Giemsa stain, haematoxylin-eosin stain, Warthin-Starry silver stain, acridine-orange stain, and phase-contrast microscopy. Culture of biopsied tissue yields growth in approximately 90%. There is a trend towards sho rter courses of triple therapy using omeprazole + 2 out of 3 of amoxycillin, clarithromycin, metronidazole. Falling titres can confirm succes sful treatment. Copyright © 2002 Dr Colin Melville
A girl of 12 attends outpatients with a history of weight loss, anorexia and diarrhoea (occasionally bloody) of 4 months duration. She is anaemic and has perianal inflammation with a small fistula: A Chronic salmonella infection is a likely diagnosis
(False)
B She may improve on an elemental diet
(True)
C Crohn’s disease is the likeliest diagnosis
(True)
D Steroids are contraindicated in treatment
(False)
E Colonoscopy, barium enema and white cell scan are appropriate investigations
(True)
Comments: The diagnosis is likely to be Crohn’s disease, due to the presence of c hronic inflammation and fistulae. An elemental diet consists of liquid nutritional support delivered orally and it may ass ist in reducing inflammation, and promoting the healing of fistulae. Steroids are part of the treatment of Crohn’s disease. Barium enema will show terminal ileitis, luminal narrowing, ulceration and thickened intestinal walls. White cell scans can be helpful in demonstrating an inflammatory process in the gut .Colonoscopy reveals ulceration and skip lesions .Biopsy will show transmural inflammation, lymphoid hyperplasia and non caseating granulomas. Hence the latter 2 investigations are the procedures of c hoice.
A baby of 2 months who is considered to be 10% clinically dehydrated with gastroenteritis: A May have blood and mucus in his stools
(True)
B Will have a full fontanelle
(False)
C Will have a low packed cell volume
(False)
D Will have increased urea level
(True)
E Should not be given milk orally for at least 48 hours
(False)
Comments: Blood and mucus may be seen with dys entry and E.Coli infection. The fontanelle will be sunken and haematocrit will be raised. An increased urea will be seen in this degree of dehydration. Oral feeding should be continued whenever possible.
The following conditions commonly present with bloody diarrhoea: A Bacillary dysentery
(True)
B Crohn’s disease
(False)
C Threadworm infestation
(False)
D Helicobacter pylori
(False)
E Haemolytic uraemic syndrome
(True)
Comments: Bacilliary dysentry eg shigellosis and haemolytic uraemic syndrome secondary to shigella or enterohaemorrhagic E.Coli present with bloody diarrhoea. Crohn’s disease presents more commonly with abdominal pain, weight loss and non bloody diarrhoea. Threadworm infestation (strongyloidiasis) presents more commonly with mild diarrhoea and abdominal pain. Helicobacter pylori presents with abdominal pain due to peptic ulcer disease or gastritis.
Infants with gastroenteritis: A In most instances require treatment with an antibiotic which is not absorbed from the gut
(False)
B If formula fed, should be given a lactose free formula
(True)
C Should be admitted to hospital if they are unable to tolerate fluid orally
(True)
D Always develop lactose intolerance
(False)
E Should have a barium meal if the initial refeeding with milk is uns uccessful
(False)
Comments: The majority of children do not require antibiotics as the cause is viral. Haemorrhagic diarrhoea may be seen with E.Coli. Intravenous fluid therapy will be required if they are unable to tolerate oral fluids. Lactose intolerance is common, but not inevitable. Barium meals are not useful in the investigation of gastroenteritis.
In infantile gastroenteritis: A The main aetiological agent is a virus
(True)
B Treatment should include Ampicillin
(False)
C Upper respiratory infection can be an associated feature
(True)
D It can cause anaemia in small babies
(False)
E It can cause lactose malabsorption
(True)
Comments: The common aetiological agents include viruses such as Rota virus, Adenovirus and Norwalk virus. Antibiotics are not of value as the majority of cases are viral. Upper respiratory tract infection may be a result of the systemic viral infection. Anaemia is not a feature. Transient disaccharide malabsorption commonly develops following infectious diarrhoea due to a reduction in lactase levels in the gut.
Features of infantile pyloric stenosis include: A Projectile vomiting
(True)
B Anorexia
(False)
C Loose stools
(False)
D More frequent in girls
(False)
E Hyperchloraemic acidosis
(False)
Comments: Projectile vomiting of large quantities of curdled milk is characteristic. Anorexia and loose stools are not clinical features. It is commonest in first-born male children. The classical biochemical picture is of hypokalaemic, hypochloraemic metabolic alkalosis.
The following is true of gastroenteritis in infancy:
A When associated with a sodium level of 160 mmol/l it should be treated with a rapid intravenous infusion of 1/5 normal saline
(False)
B Antibiotics are used to treat carrier state
(False)
C It is rarely caused by Campylobacter jejuni
(False)
D The WHO oral Rehydration fluid contains 30 mmol/l of sodium
(False)
E Lactose intolerance may complicate its recovery, especially when it is d ue to Rotavirus infection
(True)
Comments: Rapid infusion is not recommended as it is associated with seizures and cerebral oedema. Slow infusion of 0.9% saline may be given and colloids infused over half an hour if the patient is hypotensive. Antibiotics are of limited use as the infection is commonly viral. Campylobacter jejuni is associated with 17-25% of gastroenteritis in developing countries. The WHO oral rehydration fluid contains 90mmol/l Sodium. Transient disaccharide malabsorption commonly develops following in fectious diarrhoea due to a reduction in lactase levels in the gut.
A child aged 4 years has had fever, malaise, vomiting and right-sided abdominal pain for 48 hours. Which of the following are likely diagnoses? A acute pyelonephritis
(True)
B shigella dysentry
(True)
C ascaris lumbricoides infestation, if the child is living in the tropics
(True)
D right sided colonic tumour
(False)
E lobar pneumonia
(True)
Comments: Fever, vomiting and right sided abdominal pain may be due to most of the disorders above and others including appendicitis, Meckel’s diverticulum and gastroenteritis should be considered. The pneumonia could be associated with abdominal pain if diaphragmatic irritation occurs. A colonic tumour in a child would be very unlikely.
An 8 month old child has been passing frequent watery stools for 5 days. His serum biochemistry revealed the following: Sodium 158 mmol/l Potassium 3.5 mmol/l Urea 13 mmol/l Creatinine 120 umol/l pH 7.08 PCO2 4.5 KPa PO2 13 KPa Base excess 18 mmol/l Which of the following statements concerning this child is/are correct?
A The high serum sodium might have resulted from his being given only plain congee for the past 3 days at home
(False)
B A rapid infusion of sodium bicarbonate should be given to correct the acidosis
(False)
C Skin turgor is a good guide in assessing hydration state
(False)
D The condition might have resulted from taking concentrated feed before the onset of diarrhoea
(True)
E Replacement fluid to correct dehydration should be given over 6 hours to replenish the intravascular volume
(False)
Comments: The hypernatraemic dehydration will be a result of disproportionate loss of water and low volume fluid intake. Congee (rice water) is an e ffective rehydration solution and prevents further diarrhoea. The acidosis should be corrected by intravascular volume expansion. Skin turgor is not an effective means of assessing hydration as it will be preserved in overweight infants. Concentrated high sodium feeds and high sodium breast milk have been reported to cause hypernatraemic dehydration. If there is evidence of hypotension and shock, resuscitation should be fairly rapid, otherwise corr ection of electrolyte deficits should be over 24-48hours.
The following laboratory results were returned in a 6 week old boy admitted with 6 days of severe projectile vomiting: Ph 7.51 (7.35-7.45) PO2 12 KPa (95 mmHg) PCO2 4.7 KPa (35 mmHg) Blood Urea 11 mmol/l Sodium 131 mmol/l Potassium 3 mmol/l Chloride 83 mmol/l Which of the following is true concerning this patient? A He has respiratory alkalosis
(False)
B He is likely to have a b ulging anterior fontanelle
(False)
C He might have pyloric stenosis
(True)
D He should be commenced immediately on half strength soy protein, low lactose formula
(False)
E X-ray of abdomen is likely to show dilated loops of small bowel
(False)
Comments: He has a metabolic rather than respiratory alkalosis as CO2 is not reduced. He is likely to have a sunken fontanelle as he is very dehydrated. Pyloric stenosis would highly likely as because of the age and hypochloraemic, hypokalaemic metabolic alkalosis. He should be resuscitated with normal saline first. Dilated bowel would not be expected, as pyloric rather than small bowel obstruction is present.
In congenital hypertrophic pyloric stenosis
A The classical radiological appearance is the "double bubble"
(False)
B Vomiting typically starts at 2 to 4 weeks
(True)
C Vomitus is bile stained
(False)
D Refusal of feeds is a feature
(False)
E Hypochloraemic alkalosis occurs
(True)
Comments: The characteristic radiological feature is the ‘string sign’, which comprises a thin contracted pyloric canal, containing a central streak of barium. The clinical s ymptoms commonly appear in this time frame. The vomiting is not bile stained but consists of large volumes of curdled milk. Appetite and feeding are normal or increased. The characteristic metabolic abnormality is hypochloraemic hypokalaemic alkalosis.
The following organisms can produce diarrhoea via enterotoxin: A Campylobacter jejuni
(True)
B Shigella sonnei
(True)
C Vibrio cholera
(True)
D E. coli
(True)
E Staphylococcus aureus
(True)
Comments: Campylobacter is recognised to produce a entero-cytotoxin. Cholera, E. coli and Staph. are enterotoxigenic. Shigella spp may also elaborate a toxin - ET 1 or 2.
The following organisms can produce diarrhoea via enterotoxin: A Campylobacter jejuni
(True)
B Shigella sonnei
(True)
C Vibrio cholera
(True)
D E. coli
(True)
E Staphylococcus aureus
(True)
Comments: Campylobacter is recognised to produce a entero-cytotoxin. Cholera, E. coli and Staph. are enterotoxigenic. Shigella spp may also elaborate a toxin - ET 1 or 2.
Acute diarrhoea in children in the UK: A When infectious is most commonly caused by a virus
(True)
B May be a manifestation of systemic infection
(True)
C Is primarily a failure of absorption by the gu t
(False)
D May result in metabolic acidosis
(True)
E Improves when treated with antimotility drugs
(False)
Comments: The common viral causes include Rota virus, Adenovirus and Norwalk. It may be a feature of a systemic viral or bacterial infection. Malabsorption is an exceedingly rare cause of acute diarrhoea in the UK. Diarrhoea, infection and shock may all cause metabolic acidosis by reduction in plasma bicarbonate and unbalanced acid production and excretion. Anti motility drugs are not recommended, the condition improves with oral rehydration therapy.
In infantile hypertrophic pyloric stenosis: A Boys outnumber girls by 4:1
(True)
B Vomiting typically starts at 2 to 4 weeks
(True)
C Vomitus is bile stained
(False)
D Babies refuse to suck
(False)
E There is often a hypochloraemic hypokalaemic alkalosis
(True)
Comments: The male to female ratio is 4:1. The clinical symptoms commonly appear in this time frame. The vomiting is not bile stained but consists of la rge volumes of curdled milk. Appetite, and feeding are normal or increased. The characteristic metabolic abnormality is hypochloraemic hypokalaemic alkalosis.
In constipation in childhood: A Organic causes should be excluded if there is delay in passing meconium beyond 48 hours.
(True)
B Stools are typically large and hard in Hirsch prung's disease.
(False)
C Anal stenosis can be a cause of constipation which can be treated with regular dilatation with Hegar's dilators.
(True)
D Guillain-Barre Syndrome can be a precipitant.
(True)
E Is mainly due to inadequate dietary protein intake.
(False)
Comments: Delayed meconium passage beyond 48 hours means that Hirschprung's should be excluded. In Hirschprung's, stools are thin and stringy. Dietary fibre deficiency is the commonest cause of constipation in childhood. Guillain-Barre Syndrome causes ascending symmetrical paralysis. Lack of mobility can precipitate constipation and urinary retention/incontinence occurs in about 20%. Copyright © 2002 Dr Colin Melville
The following features are characteristic of "toddler diarrhoea": A Undigested food in the stools
(True)
B Poor growth
(False)
C Smelly stools
(True)
D Failure to thrive
(False)
E Pale stools
(False)
Comments: Toddler’s diarrhoea affects children between the age of 1-5 years. It is not serious, the child is well and grows normally. It is characterised by 3 or more watery motions per day. Bits of undigested vegetable matter are usually present in the stool, which is offensive. Pale stools suggest malabsorption and more serious underlying pathology.
Meckel's diverticulum: A Can present with chronic anaemia.
(True)
B Is present in 2% of the population.
(True)
C Can be diagnosed by hydrogen b reath test.
(False)
D May contain ectopic pancreatic tissue.
(True)
E May be implicated in Littre's hernia.
(True)
Comments: 2% of the population have Meckel's, which is an ileal r emnant of vitello-intestinal duct. Contains ectopic gastric mucosa/pancreatic tissue. It is usually asymptomatic. Severe bleeding (acute) or obstruction and abdominal pain can occur. A tectretium scan shows increased uptake in 70%. H2 breath test for bacteria which split marker molecules releasing gas in the breath (e.g. Hydrogen 14/O2). Little described a Meckel's diverticulum in a hernial sac in 1700, 81 years before Meckel was born. Copyright © 2002 Dr Colin Melville
In untreated coeliac disease the following statements are true: A The sweat sodium is >60 mmol/l
(False)
B The antigliadin antibody test is positive
(True)
C The HLA group is likely to be DR3 positive
(True)
D Subtotal villous atrophy is found on jejunal biopsy
(True)
E D-xylose absorption tests can be used to assist in diagnosis
(False)
Comments: Coeliac disease is not associated with abnormal sodium loss in the sweat. Antigliadin, anti endomysial, anti TTG antibodies are associated with the disease. The haplotype DR3 B8 is associated with susceptibility to coeliac disease. Subtotal villous atrophy is found on jejunal biopsy, however in less florid cases the biopsy may have to be repeated on gluten withdrawal and gluten rechallenge. D-xylose tests have been made redundant by antibody tests.
In blunt abdominal injuiries: A the small bowel is most likely to be transected in the distal ileum
(False)
B generalised thickening of the small bowel is usually secondary to extensive intramural hematoma
(False)
C the spleen is the organ most commonly injuired
(True)
D liver lacerations are associated with a rib fracture in over 30%
(True)
E in pancreatic duct injuiries the serum amylase is typically elevated
(True)
Comments: a-Seat belt injuiries may be caused by either rapid deceleration causing transection of the jejenum within 20 cm of the ligament of Treitz. This is because of the shearing force operating between the relatively fixed proximal and the more mmobile distal jejenum. b-Generalised thickening of the small bowel is a sign of mesenteric artery vasoconstriction secondary to hypovolemia. c-Followed by the liver d-50% have associated right lower rib fractures. e-There is also a leucocytosis 90% of pancreatic injuiries are associated with injury to other abdominal organs. There is a n average of 3.5 associated intraabdominal injuries. (Dr Martin Schranz)
Acute childhood (infectious) gastroenteritis in the UK: A Frequently causes hypernatraemic dehydration
(False)
B Adenovirus is the commonest pathogen isolated
(False)
C Should be treated with anti-diarrhoeal agents
(False)
D Assessment of dehydration is clinical rather than biochemical
(True)
E Should be treated with boiled water alone for 24 hours
(False)
Comments: Hypernatraemic and hyponatraemic dehydration are both infrequent complications of childhood gastroenteritis. Rota virus is the commonest pathogen. Anti diarrhoeal agents are not recommended in the treatment, as they may cause complications such as respiratory depression, bowel obstruction and bacterial overgrowth. Biochemical tests may not be abnormal till the dehydration is advanced. Clinical signs such as decreased urine output, dry mucous membranes and sunken fontanelle may appear when the child is >5% dehydrated. Oral rehydration with a glucose electrolyte solution (sodium, glucose, chloride,potassium) is recommended.
H-type tracheo-oesophageal fistula:
A Accounts for 20% of tracheo-oesophageal fistulae
(False)
B Results from posterior deviation of septum dividing the primitive fore gut at 12 weeks foetal age
(False)
C Has recognised associated with hemivertebrae
(True)
D Has an associated mortality of 10-20%
(True)
E In the majority of patients causes a persistent abnormality of oesophageal motility
(True)
Comments: H- type fistulae is an uncommon variant of the condition. Disruption to division of the embryonic trachea and oesophagus occurs in the fourth week of foetal life. Vertebral, renal, tracheal, anal and limb abnormalities are associated. The condition has a high mortality rate. Persistent abnormalities in the distal oesophagus at the site of repair occ urs eg strictures. Dilatation may be required.
Giardia lamblia: A May cause intestinal malabsorption
(True)
B Often causes blood loss in the stool
(False)
C Is a cause of traveller’s diarrhoea
(True)
D May be excluded by stool microscopy
(False)
E May be treated with Co-Trimoxazole (Septrin)
(False)
Comments: Giardia is a common cause of intestinal malabsorption. Blood loss is not a feature of this condition. It is a common cause of traveller’s diarrhoea. Stool microscopy to detect cysts and oocysts is labour intensive and lacks the sensitivity of the current test of choice ; the detection of antigens on the surface of the organisms in the stool specimen . It is treated with metronidazole.
The following anti-infective substances are present in mature breast milk: A IgG
(True)
B Bifidus factor
(True)
C Transferrin
(False)
D Lysosyme
(True)
E Lymphocytes
(True)
Comments: Secretory IgA comprises 90% of immunoglobulin in human milk, giving mucosal protection particularly against gastroenteritis, which is more important in the developing world. IgG and IgM are present in smaller amounts. The bifidus factor promotes growth of lactobacillus bifidus, which metabolises lactose to lactic and acetic acid. The resulting low pH may inhibit growth of gastrointestinal pathogens. Lisosymae
acts as a bacteriolytic enzyme, and lactoferrin acts a s an iron binding protein inhibiting growth of E. Coli . In addition, interferon, macrophages and lymphocytes are present. All elements, therefore, of the maternal mature immune system are represented in breast milk. Sorting out which are o f particular benefit is more of a problem particularly in the developed world where infectious diseases are much rarer. Copyright © 2002 Dr Colin Melville
Recognised causes of intestinal obstruction in the neonatal period include: A Appendicitis
(True)
B Peptic ulceration
(False)
C Sigmoid volvulus
(True)
D Duplication cyst
(True)
E Necrotising enterocolitis
(True)
Comments: In the first months of life, the two main presentations of peptic ulceration are g astrointestinal haemorrhage and perforation. Between the neonatal period and 2 yr of age, recurrent vomiting, slow growth, and gastrointestinal haemorrhage are its major symptoms. Intestinal obstruction results in polyhydramnios, bile-stained emesis, abdominal distension. Suspect 21-trisomy, cystic fibrosis, cocaine abuse. Causes include NEC, volvulus, duodenal atresia, ileal atresia, gastroschisis, and omphalocele. Copyright © 2002 Dr Colin Melville
A moderately dehydrated baby with acute gastroenteritis: A Has a fluid deficit of about 100ml per kilogram
(True)
B Is more likely to have hypernatraemia than hyponatraemia
(False)
C Will have loss of skin turgor
(True)
D If breast fed, should stop oral feeding
(False)
E If formula fed will need a lactose free milk on commencing oral feeding
(False)
Comments: A moderately dehydrated baby has a loss of 6-9% of body weight and a fluid deficit of around 100mls/kg. Hyponatraemia or a normal serum sodium is more likely to be present than hypernatraemia. Decreased skin tone and tissue turgor will be present, also oliguria, dry mucous membranes and sunken fontanelle. Breast feeding should be continued and supplement oral feeds may be required to maintain adequate volumes. Formula fed infants should not have their formula changed and milk feeding should not be discontinued.
Gastro-oesophageal reflux:
A Is a common cause of vomiting in infancy
(True)
B Typically results in bile-stained vomiting
(False)
C Usually requires drug treatment
(False)
D May result in an oesophageal stricture
(True)
E Is best diagnosed by a barium swallow
(False)
Comments: Gastro-oesophageal reflux is a common, usually benign and self limiting cause of vomiting in children. It is not associated with bile stained vomiting. It can be treated in many cases with positioning after feeds and smaller frequent feeds. Drug treatment is reserved for severe cases. Oes ophageal stricture, cough, apnoea, oesophagitis, pneumonia and failure to thrive are sequelae. Barium swallow is an unreliable tool as there may be intermittent reflux of barium, which is not id entified when the x-ray is taken. Other more reliable methods include endoscopy and oesophageal pH probe.
The following features are characteristic of “ toddler diarrhoea”: A Undigested food in the stools
(True)
B Poor growth
(False)
C Smelly stools
(True)
D Failure to thrive
(False)
E Pale stools
(False)
Comments: Toddler’s diarrhoea affects children between the age of 1-5 years. It is not serious, the child is well and grows normally. It is characterised by 3 or more watery motions per day. Bits of undigested vegetable matter are usually present in the stool, which is offensive. Pale stools suggest malabsorption and more serious underlying pathology.
In a six month old infant who weighed 7kg seen two days after the onset of acute gastroenteritis: A A depressed fontanelle, dry mucous membranes and poor skin turgor (elasticity) indicate fluid loss in excess of 5% body weight
(True)
B Fluid requirements would be in excess of 700ml in the first 24 hours
(True)
C Oral rehydration with a glucose/electrolyte solution is usually effective
(True)
D Secondary lactose intolerance is a recognised complication
(True)
E A pathogenic bacterial infection is the most likely cause
(False)
Comments: Clinical features of dehydration such as these only appear when a child is moderately (>5% dehydrated). Fluid requirements would be in excess of 10mlsper k ilo in the first 24 hours. Oral rehydration with a glucose/electrolyte solution is extremely effective as sodium and glucose transport are coupled in the
