MCCQE1 Pediatrics Questions And Answers With Verified Updates

MCCQE1 Pediatrics Questions And Answers With Verified Updates
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
MCCQE1 Pediatrics Questions And Answers With Verified
Updates
• 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
MCCQE1 Pediatrics Questions And Answers With Verified
Updates
• 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

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