This child has hepatosplenomegaly.
What is the diagnosis?
Corneal clouding suggestive of Mucopolysaccharidosis (MPS)
They 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).
- Hepatosplenomegaly is a characteristic feature. Inguinal and umbilical hernias are common.
- Variable levels of corneal clouding may exist and begin in patients at approximately age 8 years.
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