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
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.
Article Information
Article History:
Received Date: 2/8/2018
Revision Received Date: 19/11/2018
Acceptance Date: 20/12/2018
Electronic publication date: 31/1/2019
Collection year: 2019
© 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
Open Peer Review Details |
Manuscript submitted on 2-8-2018 |
Original Manuscript |
Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots |