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.

journal_name

Acta Derm Venereol

authors

Tang TT,Esterly NB,Lubinsky MS,Oechler HW,Harb JM,Franciosi RA

doi

10.2340/0001555573412415

subject

Has Abstract

pub_date

1993-12-01 00:00:00

pages

412-5

issue

6

eissn

0001-5555

issn

1651-2057

journal_volume

73

pub_type

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