Pediatrics Genu varum deformity Normal in children ≤ 2 years It will typically correct as infant learns to bear more weight on the lower extremities o months and may turn into genu valgum (knock Will become neutral at 18-24 months and knees) as the child grows will completely resolve at age 5 Physician should provide reassurance and f/u o Measure the intercondylar distance and document expected spontaneous resolution Should obtain x-ray if suspecting of pathologic varus Important cause to r/u is rickets (vitamin D deficiency) o Patient will have other bone deformities, impaired growth, and delayed closure of the fontanelles
Transient proteinuria Is the MCC of positive protein on urine dipstick Patient will have a normal urinary protein / creatinine ratio Further diagnostic steps are NOT indicated at this time
Duodenal hematoma conservatively in a hemodynamically stable child stable child Can be managed conservatively in Will spontaneously resolve w/in 3-4 weeks Treatment should Treatment should include NG tube and TPN o NG tube to decompress stomach and prevent aspiration of gastric contents o TPN to let bowel rest and heal appropriately
Atopic dermatitis Classically presents with dry, poorly-demarcated white scaling and erythema on the surfaces of the extremities head and EXTENSOR surfaces of o Rash is usually pruritic and may cause sleeping problems Commonly will see with patients who have fm h/o atopy Main complication is complication is the development of 2˚ infections (e.g. impetigo, HIV, warts, and/or dermatophytes Treatment is Treatment is with topical emollients (e.g. petroleum jelly)
Hereditary spherocytosis Patients will have splenomegaly, jaundice, anemia, and an elevated MCHC o PBS will show spherocytes There will be recurrent extravascular hemolysis of fragile RBCs w/in the spleen, leading to increased bilirubin o Major complication is cholecystitis due cholecystitis due to formation of billirubinate gallstones
Treatment is with splenectomy (to prevent destruction and removal) o Should provide vaccination against S. pneumonia, H. flu, and N. meningitidis due to increased risk to these organisms Ependymoma Usually develop from the lining of the ventricular system MC location is in the fourth ventricle o If they grow large enough, can cause CSF flow obstruction and resultant hydrocephalus Typically appear as homogenous enhancing masses on CT o Often with cysts and calcifications
Pertussis Epidemiology: caused by a gram-negative, obligate aerobic Bordatella pertussis Has 3 stages o Catarrhal (1-2 weeks): nonspecific s/s similar to URI o Paroxysmal stage (2-6 weeks): intense coughing with high- pitched “whooping” Can possibly be accompanied by cyanosis and posttussive vomiting o Convalescent (weeks – months): progressive reduction in symptoms Diagnosis is with culture (gold standard) or PCR Complications vary with system: o Infections OM, PNA o Pulmonary atelectasis, PTX The severe bouts of coughing leads to increased Intrathoracic and intraalveolar pressure o Neuro seizures, encephalopathy Treatment is with any macrolide (if > 1 month) o If macrolides not tolerated, then use TMP-SMX o If infants < 1 month, azithromycin ONLY
Beckwith-Wiedemann syndrome Congenital disorder with a predisposition to tumor development o Increased risk of Wilms, neuroblastoma, adrenal tumors, and hepatoblastoma Clinical features include: macrosomia, omphalocele, macroglossia, organomegaly , as well as hypoglycemia Labs will show a decreased BG, increased insulin and IGF-2 Treatment is resection of embryonal tumors and to maintain BG levels
DiGeorge syndrome Defective development of the 3rd and 4th pharyngeal pouches leading to a hypoplastic thymus and parathyroids Caused by a 22q11 deletion Clinical presentation is variable but commonly seen are CATCH-22 o Cardiac anomalies Congenital heart disease (e.g. ToF, PTA, VSD, ASD)
Anomalous face Dysmorphic facial features prominent nasal bridge, hypoplasting wing of nose, dysplastic ears, micrognathia o Thymus aplasia/hypoplasia Results in recurrent viral, fungal, PCP infections due to T-cell deficiency Cleft palate o Hypocalcemia o Due to hypoparathyroidism, can lead to tetany Treatment is with immune deficiency tx (e.g. abx, ppx, bone marrow transplant, IVIG) o Possible thymus transplantation o
Mullerian duct agenesis The mullerian ducts fail to fuse o Reults in an atretic uterus, cervix, and upper 1/3 vagina Patients will be asx til puberty when they present with 1˚ amenorrhea o Development of 2˚ sex characteristics occurs normally since gonads are f(x) and patient has normal female karyotype Treatment is primarily surgical, involving uterine transplantation and vaginoplasty
Galactosemia Most common form is galactose-1-phosphate uridylyltransferase deficiency o Leads to accumulation of galactose-1-phosphate and galactitol Clinical features include: poor feeding, FTT, jaundice, hepatomegaly, cataracts, cognitive impairment, and hypoglycemia o Will also have increased susceptibility to E.coli sepsis Diagnosis is with increased galactose in urine Treatment is to avoid food containing lactose
SCID
Congenital disorder characterized by severe, recurrent infections (e.g. bacterial diarrhea, oral candidiasis, or respiratory tract infections) as well as FTT Will often exhibit absent thymic shadow (similar to DiGeorge syndrome) o DiGeorge will also have characteristic facial anomalies Patients may also have absent peripheral lymphoid tissue (e.g. lymph nodes, tonsils) Children are typically screened using PCR amplication of T-cell receptor circles Diagnosis is confirmed with low T-cell count and a mutated adenosine deaminase gene
IgA deficiency Patient will have h/o recurrent pyogenic URIs as well as Giardiasis infections o Suggestive of impaired mucosal immunity These patients may develop anti-IgA antibodies Are at increased risk for anaphylactic transfusion reactions o Patient should be screened for anti-IgA antibodies
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Transfusion is preferred from another IgA-deficiency individual If not possible, should receive saline-washed RBC transfusions to prevent any complications
Polycythemia In neonate can occur if during pregnancy there is hypoxia (e.g. maternal diabetes) Congenital heart defects (e.g. shunts) o Blood flows through defect increased flow though pulmonary vasculature increased pulmonary resistance o Eisenmenger and shunt becomes R L, will have peripheral O2 sat decrease RBC increase = polycythemia Body responds by increased EPO production
Juvenile nasopharyngeal angiofibroma Rare, benign, and rapidly expanding tumors that occur exclusively in boys Present with a mass arising from the roof of nasopharynx and patient will have recurrent epistaxis Diagnosis is with cranial CT scan (with contrast) o Will show strong contrast enhancement due to increased vascularity Complications include pressure necrosis on adjacent structures (e.g. orbits, intracranial cavity)
Orchidopexy Surgical correction of undescended testis is recommended 4-6 months of age o Spontaneous descent is unlikely to occur after that Early surgery will optimize normal growth and fertility potential Ideally, orchidopexy should be performed before 1 year of age and is the surgical procedure of choice
Neurofibromatosis 1 Presents with Café au lait spots, Lisch nodules, and multiple neurofibromas Patients have an increased risk for optic gliomas o Should have annual ophthalmologic exam o Should have brain and orbit MRI if they develop visual/ocular changes
Neurofibromatosis 2 Presents with b/l vestibular schwannomas, meningiomas, and cerebral/spinal tumors Schwannomas may results in tinnitus, hearing loss, and vertigo
Ataxia telangiectasia Triad of ataxia, telangiectasias, and recurrent infections o Patients will have a progressive cerebellar ataxia and athetosis Telangiectasias will be present on face and conjunctivae o o Patients will have decreased immunocompetence recurrent infections
Are also at an increased risk of developing non-Hodgkin lymphoma
Sturge-Weber syndrome Most characteristic is port-wine stain (i.e. nevus flemmeus) in the V1/V2 region of face Also have vascular malformation of the choroid and CNS o Leading to early-onset glaucoma, epilepsy, and intellectual disability
Tuberous sclerosis Characteristic findings include: o Skin manifestations adenoma sebaceum and ash-leaf spots o Brain tumors (e.g. giant cell astrocytoma) Can cause intellectual disability Cardiac rhabdomyoma (>50% patients sx CHF) o Renal angiomyolipomas, can present with abdominal fullness o Patients will also have infantile spasms or seizures
Von Hippel-Lindau disease Characterized by the development of numerous tumors including: Hemangioblastomas o B/L RCC o Pheochromocytoma o
Venous hum Common benign finding on auscultation in childhood Most likely caused by turbulence in the IJV Murmur characteristics o Continuous murmur o Tends to be louder during diastole and MC on right o Gets softer with IJV compression (supine position, flexion of head)
Diabetic ketoacidosis Typically seen in Type 1 diabetics S/S include: polyuria, polydipsia, n/v, neuro sx (e.g. AMS, lethargy, coma) Characteristics include: rapid onset, abdominal pain, fruity odor, and Kussmaul respirations In contrast to HHS, glucose will be <600 vs HHS where glucose >600, often 1000 Treatment involves IVF, insulin, and potassium chloride goal is to close the gap o o Continue treating until anion gap has resolved, even if you need to give glucose to prevent hypoglycemia Complications includes cerebral edema (typically seen in 1st 12 hours of tx initiation) o Monitor patient for mental status changes and signs of increased ICP
Sphingolipidoses Gaucher’s = ß-glucocerebrosidase deficiency o Pathology shows characterist lipid-rich mø with a “crinkled paper” cytoplasm o Features include: HSM, neurodegeneration, bone crises, pulm manifestations Krabbe = galactocerebrosidase deficiency o Features include motor deficits as well as loss of vision Tay-Sachs = ß-hexosaminidase A deficiency o Features include: developmental delay, cherry red spot, hyperreflexia, seizures o Pathology reveals lysosomes w/ onion skin appearance They will NOT have HSM Neimann-Pick = sphingomyelinase deficiency o Features include: cherry red spot, hyporeflexia with the presence of HSM o Pathology reveals foam cells in the bone marrow Fabry = alpha-galactosidase A deficiency o Features include: early symptoms of angiokeratomas, cataracts, corneal clouding as well as late symptoms of CM, CVA, and neprophathy
Adrenoleukodystrophy More common in younger males Occurs from a ATP-binding cassette/ABC transporter mutation Features include: cognitive impairment, dementia, adrenal insufficiency as well as progressive vision, hearing, and motor deterioration Lethal outcome
Parinaud’s syndrome Etiology varies, can be from tumors, MS, encephalitis MC pinealoma (in children) = germinoma o Secretes ß-hcg Can cause precocious puberty in boys Features include a conjugate vertical gaze palsy, mydriasis, hydrocephalus, ataxia as well as poorpupillary constriction Tx is tx underlying condition o If pinealoma focal radiation or chemotherapy
Laryngomalacia Is a benign self-limiting condition that disappears by age 2 (in majority of cases) Diagnosis is confirmed by flexible laryngoscopy o Shows the collapse of supraglottic structures during inspirati on as well as an omega-shaped epiglottis Patients will have an inspiratory strider that is worse while supine and better prone
Ehlers-Danlos syndrome Due to defective type V collagen
Characterized by weakness of CT that predominally affects the joints and skin Features include: joint hypermobility & subluxation, skin hyperextensibility, skeletal abnormalities o Fragile skin shows tends to bruise and break easily potentially severe lacerations from minor trauma Can have cardiovascular manifestations (will be more common in vascular EhlersDanlos / type III collagen defect ) o Especially common is MVP o Others include aneurysms and dissections, including berry/saccular aneurysms (can lead to SAH)
Bronchopulmonary dysplasia Can result form barotrauma and O2 toxicity via prolonged mechanical ventilation in premature infants S/S include: persistent tachypnea, labored breathing, diffuse granular densities with basal atelectasis o Patients will often need an FiO2 >30% to maintain SpO2 sat >90% Treatment focuses on limiting O2 toxicity and preventing complications
Thyroglossal duct cyst Presents as a nontender cystic midline swelling that moves upwards on protrusion of tongue Patients should first undergo U/S to confirm o Ectopic thyroid tissue is commonly present, so ensure patient has normal functional thyroid before excising Definitive treatment is with excision
SCFE
MC presentation is an obese adolescent with hip pain Patients will have a positive Drehmann sign o Passive flexion causes external rotation and abduction X-ray will show a widening of hip joint and an displaced femoral head Treatment is with surgical pinning (for stable and unstable)
Renal Tubular Acidosis I (distal) o Presents with FTT, hyperchloremic NAGMA, urine pH >5.5, and hypokalemia o Associated with a decreased H+/K+ ATPase antiporter which reabsorbs K+ and secretes H+ Results in hypokalemia and a Hyperchloremic metabolic acidosis o The urine can’t be acidified so will have a pH >5.5 Treatment consist of alkalization therapy with oral sodium bicarbonate o II (proximal)
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Inability of the PCT to reabsorb HCO3 Presents w/ FTT, vomiting, hyperchloremic NAGMA, & hypokalemic Differs from RTA 1 because patients will have urine <5.5 Patients will still have ability to acidify urine and there will be increased H+ secretion in distal tubule in attempt to correct acidosis Treatment is with alkalinization therapy and thiazides (if alkali not tolerated)
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Results from an aldosterone deficiency and/or resistance Presents with hyperchloremic metabolic acidosis and HYPERkalemia Will have a urine pH <5.5 and a positive urine anion gap (due to persistent sodium excretion) Treatment is with furosemide, fludrocortisone, and K+ restriction
Transient tachypnea of the newborn Benign condition that usually resolves w/o tx w/in 24-48 hours Therapy should focus on supportive care which may include: o Supplemental O2 (via hood or nasal canula), maintaining neutral thermal environment, and providing adequate nutrition Should r/o other causes of respiratory distress
Mastoiditis Inflammation of the mastoid air cells Arises from extension infection from middle ear cavity (AOM) Diagnosis is with a CT of temporal bone X-ray findings can range from air cells appearing cloudy cavity in mastoid o Treatment Antibiotics will depend on past treatment and h/o of AOM: o Vancomycin if there has been no h/o recurrent AOM or no recent abx Vanc + ceftaz/cefepime/pip-tazo for patients who had recent abx or past AOM w/in 6 months o Tympanostomy + tube insertion For early stages of mastoiditis o Mastoidectomy indicated in severe cases that do not improve with abx + tympanostomy
Ob/Gyn Aromatase deficiency These individuals are unable to convert androgens estrogens Karyotypically female patients (46 XX) are born with ambiguous external genitalia and present with female pseudohermaphroditism o They will have normal internal genitalia At the time of puberty, they will fail to develop 2˚ characteristics and will typically present with 1˚ amenorrhea o Amenorrhea due to development of ovarian cysts impairing ovulation as well as virilization due to increased testosterone
Physiologic lab changes in pregnancy Presents as a chronic compensated respiratory alkalosis Acid-Base o Progesterone indirectly increases minute ventilation increasing the sensitivity of the respiratory center increased pO2, lower pCO2 Blood o Hgb concentration will decrease ~2g/dL from pre-pregnancy due to a 40-50% increase in plasma volume dilutional anemia Renal o Increased plasma volume and CO will increase GFR by ~50% o Results in decreased Cr, BUN, and uric acid
Trastuzumab Used for HER2 + tumors Carries side effect of cardiotoxicity (e.g. dilated CM with systolic HF) o Before initiating, should do echocardiogram to evaluate cardiac function o Cardiotoxic effects may be limited with dexrazoxane (iron chelating agent)
Gastrochisis Condition in intestines herniate freely through an abdominal defect and are NOT contained in hernia sac Associated with an elevated 2 nd TM MSAFP Is associated with cryptorchidism and bowel abnormalities
Omphalocele Condition in which the intestines herniate at the navel and are contained in a sac Will often have multisystem organ involvement and is associated with: GI malformations, cardiac defects, trisomies, Beckwith-Wiedmann syndrome Associated with an elevated 2 nd TM MSAFP
Treatment is securing the bowel and performing surgical closure of wall defect
Interstitial cystitis Is a chronic, noninfectious cause of cystitis with an unknown etiology Patients present w/ suprapubic pain and increased urgency/frequency for >6 weeks Considered a diagnosis of exclusions and ALL other causes of cystitis must be r/o first Treatment is with: 1st line behavior modification o nd o 2 line amitriptyline (analgesic and antidepressant) o 3rd line invasive bladder procedures
Retained dead fetus Spontaneous labor will typically begin w/in 2 weeks but it can be induced with oxytocin or misoprostol *If >2 weeks, increased risk of systemic absorption of thromboplastin (produced by placenta) o Results in coagulation cascade activation DIC* If septic, manage with broad-spectrum abx and surgical evacuation of uterine cavity
Magnesium sulfate Give to pre-eclamptic mother with severe featuers to prevent progression to eclampsia Any patient receiving should be closely monitored as it can have severe side effects o Typically hypo/areflexia In case of toxicity, should decrease/stop dose and give calcium gluconate
Functional hypothalamic amenorrhea Can be caused by a variety of factors including: excessive exercise, reduced calories, or stress In response the body regulates reproductive potential down by decreasing frequency of GnRH release from the hypothalamus decreased gonadotropin (FSH & LH) secretion o o End results in subsequent anovulation 2˚ amenorrhea
Vaginal atresia Caused from Müllerian agenesis o Patient will have normally function gonads normal 2˚ characteristics o Will be atresia of upper 2/3 of vagina o Associated with absent or malformed uterus and cervix Clinical features are asx before puberty, but following can present with 1˚ amenorrhea, infertility, and dyspareunia Diagnosis is confirmed with ultrasound, and the patient will have normal labs Treatment is with vaginoplasty
Imperforate hymen Refers to a hymen without an opening Features include: primary amenorrhea, palpable lower mass, and tense bulging bluish membrane in vulva Diagnosis is clinical, but imaging can be conducted to r/o transverse vaginal septum Treatment is with excision/surgery o Patient’s menses will typically normalize and menstrual pain decreases after procedure
Precocious puberty Refers to the appearance of 2˚ characteristics before age 8 in girls, and 9 in boys Central o Patient will have elevated GnRH levels o Pathophyisology is premature activation of hypothalamo-hypophyseal axis o Labs will show an increased LH and FSH o Diagnosis is with a GnRH stimulation test (levels will increase after IV GnRH) Should also get an CT or MRI w/ contrast to r/o organic causes o Treatment is with GnRH agonist (e.g. leuprolide) Manage underlying cause Peripheral o Patients will NOT have elevated GnRH o Etiology is typically from androgen, estrogen, or ß-hcg production This can include variety of tumors as well as CAH and McCune-Albright syndrome Diagnosis is with an U/S pelvis, testicles, and abdomen o Labs will show elevated est/test (depending on tumor) and a decreased FSH/LH o Other tests can include TSH, FT3, ß-hcg, CT/MRI o Therapy is to treat underlying causes Only exception is ovarian cysts because most spontaneously resolve
Lichen planus Chronic inflammatory disease with characterist white, atrophic plaques Clinical presentation is severe pruritis, pain/soreness o Gender specific dyspareunia in women and phimosis in men Diagnosis is confirmed with punch biopsy (and to r/o squamous cell carcinoma) Treatment is with topical steroids (e.g. clobetasol, and sometimes betamethasone) o 2nd line = calcineurin inhibitors (e.g tacrolimus, cyclosporine)
Postterm pregnancy Will increase risk of meconium aspiration o Due to combination of fetal GI tract maturation, increased fetal stress, and decreased meconium clearance from insufficiency of aging placenta Induction of labor between 40-42 weeks can reduce risk of these complications
Vaginismus Also known as genito-pelvic / penetration disorder Patients will have a sharp pain on penetration (e.g intercourse, tampon insertion) Initial treatment recommended is pelvic floor physical therapy o If refractory, can use local botox injections
Chancroid Caused by H. ducreyi Presents with multiple painFUL purulent lesions that have a grey necrotic base o Often accompanied by painful inguinal LAD o In men, often is single lesion Treatment is with single dose oral azithromycin or IM ceftriaxone
Granuloma inguinale Caused by K. granulomatis Presents with painless nodules that eventually ulcerate and form beefy-red lesions o Lesions will bleed easily and lymph nodes are typically spared Biopsy will show Donovan bodies (inclusion bodies within macrophages) Treatment is with azithromycin
Lymphogranuloma venereum Caused by L1-L3 C. trachomatis Presents as a transient painless papule that heals rapidly 2-6 weeks later will have painful suppurative LAD with systemic symptoms o Treatment is with doxycycline
