Cutaneous Manifestations of GM 1 Gangliosidosis Type One

Vidyadhar Sardesai, Trupti Agarwal
2.867 1.077

Abstract


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.


Keywords


GM1 Gangliosidosis, ecchymoses, mongolian spots

Full Text:

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References


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