Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots



Ghizlane Draïss1, Adil Fouad1, *, Nourddine Rada1, Ouafa Hocar2, Naima Fdil3, Mohamed Bouskraoui1
Department of Pediatrics, Mohamed VI University Hospital, PB 2360, Ibn Sina Avenue, Marrakesh, Morocco
Department of Dermatology, Mohamed VI University Hospital, PB 2360, Ibn Sina Avenue, Marrakesh, Morocco
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.

Hypothesis:

This delay in diagnosis may be due to the variability of clinical expression of the disorder. Extensive Mongolian or slate-grey spots deserve special attention as possible indications of associated inborn errors of metabolism, especially GM1-gangliosidosis and mucopolysaccharidosis.

Observation:

Only symptomatic treatments are available for GM1-gangliosidosis; research is underway.

Conclusion:

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.

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


Abstract Information


Identifiers and Pagination:

Year: 2018
Volume: 9
Publisher Item Identifier: EA-TOPEDJ-2018-1

Article History:

Received Date: 2/8/2018
Revision Received Date: 19/11/2018
Acceptance Date: 19/12/2018
Electronic publication date: 31/12/2018
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.


Correspondence: 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