GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots.
GM1-gangliosidosis (GM1) is one of the metabolic storage diseases, of which a differential diagnosis requires an array of biochemical assays to determine the enzyme deficiency. This approach is not only time-consuming and costly but also unavailable to most hospital laboratories. However, a presumptive diagnosis of GM1 may be made on the basis of coarse facial feature, foamy endothelial cells in the cutaneous blood vessels and ectopic Mongolian spots, if present. A more definitive diagnosis of GM1 is then made on the demonstration of deficiency of GM1 beta-galactosidase in leukocytes, plasma or cultured skin fibroblasts. Thus, a battery of enzyme tests may be averted.
Tang
T T
TT
Department of Pathology, Children's Hospital of Wisconsin, Milwaukee 53201.
Esterly
N B
NB
Lubinsky
M S
MS
Oechler
H W
HW
Harb
J M
JM
Franciosi
R A
RA
D044383:Black People; D002196:Capillaries / Q000473:pathology; D004730:Endothelium, Vascular / Q000473:pathology*; D005260:Female; D005696:Galactosidases / Q000032:analysis; D016537:Gangliosidosis, GM1 / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007223:Infant; D018329:Nevus, Blue / Q000150:complications / Q000473:pathology*; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology*
D005696:Galactosidases