Question
A 4-year-old boy is brought to your OPD with complaints of global developmental delay. O/E, there is gross facial dysmorphism with coarse features, umbilical hernia, short stature, gibbus deformity, boxed skull, and corneal opacities. There is a family history of a similar illness in the maternal uncle who expired at the age of 9 years with recurrent infections. What is the most likely diagnosis:
| A. |
Congenital hypothyroidism
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| B. |
Mucopolysaccharidosis
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| C. |
Gaucher’s disease
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| D. |
Niemann pick’s disease
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Show Answer
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Correct Answer � B
Explanation
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Ans. B. Mucopolysaccharidosis
Explanation:The clinical presentation matches that of mucopolysaccharidosis which is a group of autosomal recessive lysosomal storage diseases ( except for hurlers disease which is x linked recessive). There is the abnormal deposition of glycosaminoglycans in various tissues like musculoskeletal tissues, heart, lungs, etc which cause progressive morbidity in these patients. Corneal clouding is seen in MPS 1, 4 and 7 types ( Hurler.s, Morquio, Sly syndromes).
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