title: GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots.
abstract: 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.
authors.affiliation: Department of Pathology, Children's Hospital of Wisconsin, Milwaukee 53201.
authors.forename: T T
authors.initials: TT
authors.lastname: Tang
authors.forename: N B
authors.initials: NB
authors.lastname: Esterly
authors.forename: M S
authors.initials: MS
authors.lastname: Lubinsky
authors.forename: H W
authors.initials: HW
authors.lastname: Oechler
authors.forename: J M
authors.initials: JM
authors.lastname: Harb
authors.forename: R A
authors.initials: RA
authors.lastname: Franciosi
mesh_terms: 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*
chemical_list: D005696:Galactosidases