Spot Diagnosis

Hepatosplenomegaly with skin rash

Question :

This 4 month old boy born of non-consangineous marriage has delayed development, hepatosplenomegaly and this skin rash. TORCH titres, VDRL are negative. His ophthalmological examination showed cherry red spot

What is the diagnosis?

Discussion :

GM1 gangliosidosis. Enzyme assay in leukocytes confirmed deficiency of acid beta-galactosidase. Diffuse, extensive and unusual Mongolian spots have been reported in increasing number of cases of GM1 gangliosidosis type 1

Correct Answers :

Last Shown : Mar 2013

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