Genetic Disorders · NEET PG Preparation Paediatrics
A 3-year-old child presents with global developmental delay, coarse facial features, restricted joint mobility, and corneal clouding. X-ray of the sp…
Practice question from Genetic Disorders (NEET PG Preparation Paediatrics), with the correct answer and a step-by-step solution.
medium · MCQ · Q-5341C6
A 3-year-old child presents with global developmental delay, coarse facial features, restricted joint mobility, and corneal clouding. X-ray of the spine reveals lumbar kyphosis with anterior beaking of the L1 or L2 vertebrae. Leukocyte enzyme assay confirms a deficiency of alpha-L-iduronidase. Which of the following mucopolysaccharidoses does this child have?
- A.Hurler syndrome (MPS I)Correct answer
- B.Hunter syndrome (MPS II)
- C.Sanfilippo syndrome (MPS III)
- D.Morquio syndrome (MPS IV)
Solution
Hurler syndrome (Mucopolysaccharidosis Type I) is caused by a deficiency of alpha-L-iduronidase, leading to the accumulation of dermatan sulfate and heparansulfate. It is characterized by severe developmental delay, coarse facies, corneal clouding, hepatosplenomegaly, skeletal abnormalities (dysostosis multiplex, including gibbus deformity/beaked vertebrae), and early death. Hunter syndrome (MPS II) is X-linked and lacks corneal clouding.
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