Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots
Ghizlane Draïss1, Adil Fouad1, *, Nourddine Rada1, Ouafa Hocar2, Naima Fdil3, Mohamed Bouskraoui1
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. 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.
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.
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: email@example.com