CASE REPORT
Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots
Ghizlane Draïss1, Adil Fouad1, *, Nourddine Rada1, Ouafa Hocar2, Naima Fdil3, Mohamed Bouskraoui1
Article Information
Identifiers and Pagination:
Year: 2019Volume: 9
First Page: 1
Last Page: 4
Publisher Id: TOPEDJ-9-1
DOI: 10.2174/1874309901909010001
Article History:
Received Date: 2/8/2018Revision Received Date: 19/11/2018
Acceptance Date: 20/12/2018
Electronic publication date: 31/1/2019
Collection year: 2019
open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: (https://creativecommons.org/licenses/by/4.0/legalcode). This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Introduction:
GM1-gangliosidosis is an inherited metabolic disease caused by mutations in the GLB1 gene resulting in deficiency of β-galactosidase. Three forms have been identified: Infantile, juvenile, and adult. The infantile type progresses rapidly and aggressively and a delayed diagnosis hampers the prevention of many neurological deficits. This delay in diagnosis may be due to the variability of clinical expression of the disorder.
Hypothesis:
Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis. Only symptomatic treatments are available for GM1-gangliosidosis; research is underway.
Observation:
In this article, we report a case of infantile GM1-gangliosidosis revealed by slate-grey Mongolian spots, a rare condition in Morocco, and a review of the literature.
Conclusion:
The finding of persistent and extensive slate-grey mongolian spots in infant could lead to early detection of GM1-gangliosidosis before irreversible organ damage occurs.
