A child has tnicrocephaly, blue eyes, Fair skin, and Mental retardation, Ferric chloride test is positive.What is the likely diagnosis –
Correct Answer: Phenylketonuria (PKU)
Description: Clinical manifestations of phenylketonuria
Normal at birth
Symptoms occur after 1 months -
Mental retardation → Not present at birth, develops gradually.
Neurological signs Irritability, tremors, convulsions, hyperkinesis and muscular hypertonia & exaggerated reflex.
Blond hair, blue iris, fair skin.
Musty or mousy body odor.
Vomiting
Microcephaly
Enamel hypoplasia & Growth retardation
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now