MCQ: Metabolic disorder | Cataract | Seizures
Clinical scenario: A 5-month-old girl is brought to the pediatric clinic because her parents have noticed that she does not
MCQs
MCQ: Metabolic disorder | Skin lesions
Clinical scenario: Yellowish skin lesions | Family history of ischemic heart disease An 8-year-old boy is brought to the pediatric
MCQ: Floppy infant | Dysmorphism
Clinical Scenario: A 10-day-old male neonate is admitted with poor feeding, lethargy, hypotonia, and multifocal seizures since birth. Pregnancy was
MCQ: Degenerative brain disease
Clinical Scenario: A 5-year-old girl is brought with a 9-month history of progressive gait difficulty and frequent falls. She was
MCQ: Regression of Milestones| Pigmentation
Clinical Scenario: An 8-year-old boy is brought with progressive decline in school performance over the past 8 months. His teacher
MCQ: Behavior disorder | Syndromic features
Clinical Scenario: A 6-year-old boy is referred because of progressive behavioral problems, hearing impairment, recurrent otitis media, and declining school
MCQ: Cardiomyopathy | Syndromic facies
Clinical Scenario: A 4-year-old boy is brought with progressive breathlessness on exertion, easy fatigability, and recurrent chest infections. Examination reveals
MCQ: Metabolic Disorder | Toddler with Recurrent Hypoglycemia and Hepatomegaly
Clinical Scenario: A 20-month-old boy is brought to the emergency department with recurrent early-morning seizures. His parents report that he
MCQ: Metabolic Disorder | Child with Recurrent Abdominal Pain and Neurological Symptoms
Clinical Scenario: An 8-year-old boy is evaluated for recurrent episodes of severe abdominal pain, vomiting, irritability, and progressive weakness of
MCQ: Aminoacidopathy | Infant with Cardiomyopathy
Clinical Scenario: A 4-month-old boy is brought with progressive hypotonia, poor feeding, and failure to thrive. Examination reveals marked macroglossia,
