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GM1 gangliosidosis is a rare storage disorder in which accumulation of sphingolipids occurs in brain and viscera due to a deficiency of a lysosomal enzyme. Multiple and unusually large Mongolian blue spots have been postulated to be an associated feature of lysosomal storage disorders 1,2 . Our patient, whose clinical course and physical signs were in keeping with GM1 gangliosidosis, had extensive Mongolian blue spots and this adds to the evidence supporting such an association.

Unusually large Mongolian blue spots in GM1 gangliosidosis: Is there an association?