GM(1)-GANGLIOSIDOSIS TYPE-1 INVOLVING THE CUTANEOUS VASCULAR ENDOTHELIAL-CELLS IN A BLACK INFANT WITH MULTIPLE ECTOPIC MONGOLIAN SPOTS

GM(1)-gangliosidosis (GM(1)) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical as says to determine the enzyme deficiency. This approach is not only tim e-consuming and costly but also unavailable to most hospital laborator ies. However, a presumptive diagnosis of GM(1) may be made on the basi s of coarse facial feature, foamy endothelial cells in the cutaneous b lood vessels and ectopic Mongolian spots, if present. A more definitiv e diagnosis of GM(1) is then made on the demonstration of deficiency o f GM(1) beta-galactosidase in leukocytes, plasma or cultured skin fibr oblasts. Thus, a battery of enzyme tests may be averted.