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GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots.
Acta Derm Venereol 1993; 73(6):412-5AD

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+Show Affiliations

Department of Pathology, Children's Hospital of Wisconsin, Milwaukee 53201.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7906450

Citation

Tang, T T., et al. "GM1-gangliosidosis Type 1 Involving the Cutaneous Vascular Endothelial Cells in a Black Infant With Multiple Ectopic Mongolian Spots." Acta Dermato-venereologica, vol. 73, no. 6, 1993, pp. 412-5.
Tang TT, Esterly NB, Lubinsky MS, et al. GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. Acta Derm Venereol. 1993;73(6):412-5.
Tang, T. T., Esterly, N. B., Lubinsky, M. S., Oechler, H. W., Harb, J. M., & Franciosi, R. A. (1993). GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. Acta Dermato-venereologica, 73(6), pp. 412-5.
Tang TT, et al. GM1-gangliosidosis Type 1 Involving the Cutaneous Vascular Endothelial Cells in a Black Infant With Multiple Ectopic Mongolian Spots. Acta Derm Venereol. 1993;73(6):412-5. PubMed PMID: 7906450.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - GM1-gangliosidosis type 1 involving the cutaneous vascular endothelial cells in a black infant with multiple ectopic Mongolian spots. AU - Tang,T T, AU - Esterly,N B, AU - Lubinsky,M S, AU - Oechler,H W, AU - Harb,J M, AU - Franciosi,R A, PY - 1993/12/1/pubmed PY - 1993/12/1/medline PY - 1993/12/1/entrez SP - 412 EP - 5 JF - Acta dermato-venereologica JO - Acta Derm. Venereol. VL - 73 IS - 6 N2 - 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. SN - 0001-5555 UR - https://www.unboundmedicine.com/medline/citation/7906450/GM1_gangliosidosis_type_1_involving_the_cutaneous_vascular_endothelial_cells_in_a_black_infant_with_multiple_ectopic_Mongolian_spots_ L2 - https://www.medicaljournals.se/acta/content/abstract/10.2340/0001555573412415 DB - PRIME DP - Unbound Medicine ER -