Spot Diagnosis

Mucopolysaccharidosis



Question :
Spot diagnosis



What is the diagnosis?

Discussion :
Corneal clouding suggestive of Mucopolysaccharidosis {MPS}. The mucopolysaccharidoses {MPS} are a group of inherited lysosomal storage disorders that are caused by a deficiency of specific lysosomal enzymes required for the degradation of glycosaminoglycans {GAGs} {mucopolysaccharides}. Typical features include hepatosplenomegaly, coarse features, corneal clouding and skeletal dysostosis. No treatment is available for the underlying disorder, and care must be supportive.

Correct Answers : yes  27%

Last Shown : Jul 2005
 
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