spot diagnosis



>>> Q. Spot diagnosis 





Answer : 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.


look pediatric clinical test  by dr amlashour;

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