GM1 Gangliosidosis is a rare autosomal recessive disorder characterized by deficiency of lysosomal enzyme ganglioside β-galactosidase. We present a 9 month old male child with diffuse ecchymoses, mongolian spots with other clinical features and investigations suggestive of GM1 Gangliosidosis.
Primary Language | English |
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Journal Section | Case Reports |
Authors | |
Publication Date | December 12, 2013 |
Published in Issue | Year 2013 Volume: 5 |