Pediatrics MCCQE1 Exam Questions with correct Answers

Absent seizures duration, presentation clinically and diagnostically, and tx - Answer- • Present 4-10 yo • Brief (<20 seconds) impairment of consciousness (staring spells) • Preserved muscle tone • Unresponsive to tactile/verbal stimulation • Simple automatisms frequently present • Provoked by hyperventilation • Dx: EEG: 3-Hz spike-wave discharges • Comorbidities: ADHD, anxiety • Rx: Ethosuximide Alport syndrome clinical presentation - Answer- • Recurrent gross hematuria and proteinuria in childhood • Family Hx of renal failure • Sensorineural deafness Alport syndrome: renal biopsy demonstrates? - Answer- • Renal biopsy: foam cells. Electron microscopy shows areas of thinned and thickened capillary loops with splitting of GBM Angelman syndrome- which chromosome - Answer- • Deletion of maternal copy of chromosome 15q11-q13 Angelman clinical presentaiton - Answer- • Short stature, intellectual disability • Unique: Smiling/laughter, hand-flapping, ataxia, seizures APGAR 0 POINTS - Answer- blue, no pulse, no tone, no grimace, and no repstory effort APGAR 1 POINT - Answer- acrocyatnosis <100 grimace, fleion, slow weak cry APGAR 2 POINTS - Answer- pink >100, cough/cry active, regular good rbrathing Beckwith-Wiedemann syndrome chromosome and presentaiton - Answer- • Deregulation on imprinted gene expression 11p15 (Insulin like growth factor II) • Fetal macrosomia, rapid growth until late childhood • Hemihyperplasia • Macroglossia (large tongue), omphalocele or umbilical hernia • Hyperinsulinism Associated with • Wilms tumor, hepatoblastoma Backwith-wideman screening - Answer- • Screening abdo U/S and α-fetoprotein levels every 3 months from birth to 4 years, then abdo U/S q3months 4-8 yo, then renal U/S from 8 to adolescence Biliary atresia- lab abormality and clinical presentation - Answer- • Presents 1-8 weeks after birth • Jaundice, acholic stool (pale) or dark urine, hepatomegaly • Conjugated hyperbilirubinemia Investigations and tx of biliary atresia - Answer- • First, U/S (absent or abnormal gallbladder), Hepatobiliary scintigraphy (failure of tracer excretion), Liver biopsy, intraoperative cholangiogram (gold standard) • Kasai procedure. Will most likely need liver transplant Breastfeeding failure jaundice- clinical presetnation and lab abnormality - Answer- • Due to inadequate breast feeding • Reduced stooling leading to decreased bili elimination and hyperbili • Also results in dehydration and "brick red" urate crystals in urine Celiac dz GI symptoms - Answer- • Abdo pain, nausea/vomiting, diarrhea, flatulence and bloating Extraintestinal symptoms • Short stature and weight loss • Iron deficiency anemia • Dermatitis herpetiformis (pruritic popular or vesicular rash on knees, elbows, forearms and buttocks) Diagnosis of celiac disease- also what does the duodenal biopsy show? - Answer- Dx: • Tissue transglutaminase IgA antibodies • Anti-endomysial antibodies • Duodenal biopsy showing intraepithelial lymphocytes and flattened villi Choanal atresia presentation - Answer- • Newborn that has cyanosis that is aggravated by feeding and relieved by crying • Failure of posterior nasal passage to canalize What is the association of choanal atresia? - Answer- • Can be part of CHARGE syndrome (Coloboma, Heart Defects, Atresia choanae, Retardation of growth/development, Genito-urinary anomalies, and Ear abnormalities/deafness) Cholesteatoma what is the pathophysiology and what are the complications? - Answer- • Continued ear drainage for several weeks despite appropriate abx treatment • Chronic middle ear disease leads to formation of retraction pockets in tympanic membrane which fill with granulation tissue and skin debris • On exam: intact TM with peripheral granulation and skin debris • Complications: hearing loss, cranial nerve palsies, vertigo and brain abscess or meningitis Colic when does it present, what is the rule of threes - Answer- • First few weeks of life, usually ends by 4 months • >3 hours a day of crying (usually in evening), >3 days a week for > weeks Normal breast development + absent uterus and upper vagina, cryptoorchid tests and minimal to absent axillary and pubic hair. what is this syndrome? - Answer- Complete androgen insensitivity syndrome • 46XY • X-linked mutation of androgen receptor Prematurity complications - Answer- Complications of Prematurity • Respiratory distress syndrome • Patent ductus arteriosus • Bronchopulmonary dysplasia • Intraventricular hemorrhage (lethargy, hypontonia, high-pitched cry, rapidly increasing head circumference, bulging fontanels [causes communicating hydrocephalus]) • Necrotizing enterocolitis • Retinopathy of prematurity How does congenital hypothyroidism appear? - Answer- • Gradually develop: apathy, weakness, hypotonia, large tongue, sluggish movement, abdo bloating, umbilical hernia • Less common: pathologic jaundice, difficulty breathing, noisy respiration, hypothermia, refractory macrocytic anemia • Most commonly caused by thyroid dysgenesis Congenital adrenal hyperplasia how does it present? classic vs non-classic. - Answer- Classic • Presents in neonatal period with adrenal insufficiency and/or ambiguous genitalia • Salt wasting Non-classic (late onset) • Causes gonadotropin-independent (peripheral) precocious puberty • Low LH levels at baseline • GnRH stimulation does not cause LH increase • Advanced bone age, coarse axillary and pubic hair, severe cystic acne • Caused by 21-hydroylase deficiency • Presents similar to Leydig cell tumor (testosterone excreting tumor), however mass in testicle would be felt Cerebral palsy- greatest risk factor - Answer- • Greatest risk factor is prematurity What are the three types of CP - Answer- • Three types: spastic, dyskinetic, ataxic • Spastic most common: hypertonia and hyperreflexia predominately in lower extremities with both feet pointing down and inward (equinovarus deformity) Webbed neck, cleft lip, shielded chest, triphalangeal thumbs (present in 50% of cases) • Intrinsic defect of erythroid progenitors resulting in apoptosis - Answer- Diamond-Blackfan syndrome congenital hypoplastic anemia) Diamond blackfan lab abormlaties - Answer- • Macrocytic anemia • Low retic count DKA presentation - Answer- • Type I diabetes • Dry mucous membranes (severe dehydration), polyuria, decreased LOC, diffuse abdo pain and metabolic acidosis (low bicarb) • Infection can precipitate DKA • Diuresis causes total body loss of K+, which may be elevated on labs due to acidemia and decreased insulin levels Ewing sarcoma- where does it affect and what does it look like? - Answer- • Long bones of extremities (lower more than upper) with pain for many weeks/months, swelling and deformity • Metastasizes early to lungs and lymph nodes • May demonstrate multiple layers of new subperiosteal bone formation (onion skin periosteal reaction). Often followed by "moth eaten" or mottled appearance and extension into tissue Expansion of CGG trinucleotide repeats HOW does this present? - Answer- • X-linked dominant. Expansion of CGG trinucleotide repeats in fragile X MR 1 gene of X chromosome • MR. speech and motor delays, ADHD and autism • Large head, long face, prominent forehead, protruding ears, macroorchidism • Galactose-1-phosphate uridyl transferase deficiency is a contraindication to - Answer- breast feeding GB cause - Answer- • Ascending muscle weakness and areflexia • Usually a antecedent resp or GI illness • VSD sound - Answer- holosytolic murmur - best heard in lower left sternal border. Can be associated with apical diastolic rumble doe to increased flow across mitral valve • ASD - Answer- ystolic ejection murmur - best heard in left upper sternal border continuous flow murmur - best heard in left subclavicular region - Answer- • PDA Primary murmur is harsh, systolic ejection murmur over lfet upper sternal border from pulmonary stenosis - Answer- • Tetralogy of Fallot HUS presentation - Answer- • Diarrhea (often bloody), Lethargy, pallor, bruising/petechiae • Kidney failure: oliguria, edema, pulmonary edema and CHF Labs: • Hemolytic anemia with increased bili and increased retic count HUS tx - Answer- • Supportive. Blood transfusion and dialysis if severe (50% will need dialysis) Ig__ affects Hsp - Answer- • IgA-mediated leukocytoclastic vasculitis HSP presentation - Answer- • Palpable purpura on lower extremities and buttocks • Arthritis/arthralgia most common in ankles and knees • Abdominal pain, small bowel or ileo-ileal intussusceptions (4%) (cannot be fixed with air or contrast enema) • Scrotal swelling as a rare presentation Renal disease of HSP - Answer- • Renal disease similar to IgA nephropathy (Hematuria, non-nephrotic-range proteinuria, mildly elevated or normal creatinine) Type 1 hypersensitivitiy rxn - Answer- • Immediate or anaphylactic • IgE. Have to be exposed previously to allergen • Mast cell and basophil degranulation and release histamines, etc. • Urticaria and pruritis Type II hypersensitivity rxn - Answer- • Antibody mediated (Cytotoxic hypersensitivity) • Reaction of IgM or IgG antibodies with cell-bound antigens leading to complement activation and cell destruction • Autoimmune ie. ABO blood group incompatibility Type III: - Answer- • Antigen-antibody complexes • Insert into blood vessels, joints, glomeruli • Ie. Serum sickness Type IV: - Answer- • Delayed type (cell mediated) • Ie. Allergic contact dermatitis RF for Intussception - Answer- • Recent viral illness or rotavirus vaccine Presentation of intussception - Answer- • Sudden, intermittent abdo pain, emesis • Currant jelly stools (bloody) • Sausage shaped abdo mass • Lethargy or altered mental status Treatment for intussception - Answer- • Rx: Air or saline contrast enema (both diagnostic and curative) • Dx: U/S if unsure - Target sign Baby with kallman syndrome, how do they acquire - Answer- • 46 XX - X-linked recessive • Disorder of migration of fetal GnRH and olfactory neurons (no GnRH) • Hypogonadotropic hypogonadism Kallman syndrome- in everyone, in females? in males? - Answer- • Hypogonadotropic hypogonadism • Rhinencephalon hypoplasia leading to anosmia/hyposmia (can't smell) • Results in short stature and delayed or absent puberty • Females: primary amenorrhea, absent breast development, no pubic hair • Males: small external genitalia, absent secondary sexual characteristics Tx for Kallman syndrome - Answer- • Low FSH/LH • Rx: Hormonal therapy • Primary hypogonadism (small testes, infertility), gynecomastia - Answer- Klinefelter syndrome • 47 XXY • Boys 4-10 yo • Mild chronic hip or knee pain of insidious onset and limp • Not associated with obesity - Answer- Legg-Calve-Perthes disease • Idiopathic osteonecrosis of femoral head • Pectus deformity, Joint hyperlaxity, skin hyperelasticity, scoliosis - Answer- Marfan Syndrome / Homocystinuria • Aortic root dilation • Upward lense dislocation - Answer- Marfans- AD • Precocious puberty • Café-au-lait spots • Multiple bone defects (polyostotic fibrous dysplasia) • Sporadic • Can be associated with other endocrine disorders (hyperthyroidism, prolactin or GH secreting pituitary adenomas, adrenal hypercortisolism[cushings]) - Answer- McCune-Albright syndrome • Painless asymptomatic hematochezia • Increased risk of intussusception • Can lead to intestinal obstruction - Answer- Meckel's Diverticulum Meckel's Diverticulum dx and tx - Answer- • Dx: Technetium-99m pertechnetate scan (Meckel's scan) • Rx: Surgery for symptomatic • Most common congenital foot deformity • Flexible positioning • Medial deviation of forefoot • Neutral position of hindfoot - Answer- Metatarsus adductus (milk-protein allergy) when does it present and how does it present - Answer- Milk or soy protein induced colitis (milk-protein allergy) • Presents at 2-8 weeks age • Regurgitation or vomiting • +/- painless bloody stools • +/- eczema tx for milk protein allergy - Answer- • Breast fed children, mother must remove all dairy and soy from diet, children formula fed should be switched to hydrolyzed formula • Blood in stool will stop within 2 weeks • Most of these children will be able to tolerate dairy and soy by 1 years age How does mullerian agenesis look? - Answer- • 46XX • Hypoplastic or absent mullerian ductal system • Normal breast development, axillary and pubic hair • Absent or rudimentary uterus and upper vagina/cervix • Normal overies XR for TTN? RDS? Persisent PTHn? - Answer- Transient tachypnea of the newborn • Xray - bilateral perihilar linear streaking Respiratory distress syndrome • Xray - Diffuse reticulogranular (ground glass) appearance, air bronchograms, low lung volumes • Rx: CPAP, then intubation and surfactant if not effective Persistent pulmonary hypertension • Xray - clear lungs with decreased pulmonary vascularity • Most common childhood cause of nephrotic syndrome • Usually before 10 yo • T-cell mediated injury to podocytes • No hematuria • Biopsy: Normal renal architecture, effacement of foot processes of podocytes on electron microscopy - Answer- Minimal Change Disease Minimal Change Disease tx - Answer- • Rx: Corticosteroids • Most common cause of nephrotic syndrome in adolescents and adults - Answer- Focal segmental glomerulosclerosis • Nephrotic syndrome in the setting of active HepB infection - Answer- Membranous nephropathy Membranous nephropathy on biopsy - Answer- • Thickening of membrane on biopsy Type 1 • Café-au-lait spots, freckles in axilla and groin, macrocephaly, feeding problems, short stature, learning disabilities • Type 2 • Bilateral acoustic neuromas, cataracts - Answer- Neurofibromatosis • Autosomal recessive • 2-6 months • Hypotonia • Cherry-Red macula - Answer- Tay-Sachs Disease • Usually plays a sport with a lot of jumping. Some relief with NSAIDS • Traction apophysitis of the apophysis of tibial tubercle • Pain reproduced on extension against resistance - Answer- Osgood-Schlatters Disease • Multiple recurrent fractures