CASE REPORT


Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots



Ghizlane Draïss1, Adil Fouad1, *, Nourddine Rada1, Ouafa Hocar2, Naima Fdil3, Mohamed Bouskraoui1
1 Department of Pediatrics, Mohamed VI University Hospital, Marrakesh, Morocco
2 Department of Dermatology, Mohamed VI University Hospital, Marrakesh, Morocco
3 Department of Biochemistry, Medical School of Marrakesh, Cadi Ayyad University, Marrakesh, Morocco


Article Metrics

CrossRef Citations:
0
Total Statistics:

Full-Text HTML Views: 840
Abstract HTML Views: 547
PDF Downloads: 252
Total Views/Downloads: 1855
Unique Statistics:

Full-Text HTML Views: 569
Abstract HTML Views: 384
PDF Downloads: 160
Total Views/Downloads: 1249



© 2019 Draïss et al.

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.

* Address correspondence to this author at the Department of Pediatrics, Mohamed VI University Hospital, PB 2360, Ibn Sina Avenue, Marrakesh, Morocco; Tel: +212524300700; E-mail: adilfouad@hotmail.fr


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.

Keywords: GM1-gangliosidosis, Metabolic disease, Mongolian spots, Slate-grey spots, GLB1 gene, Mucopolysaccharidosis.