The Open Pediatric Medicine Journal
2019, 9 : 1-4Published online 2019 January 31. DOI: 10.2174/1874309901909010001
Publisher ID: TOPEDJ-9-1
CASE REPORT
Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots
2 Department of Dermatology, Mohamed VI University Hospital, Marrakesh, Morocco
3 Department of Biochemistry, Medical School of Marrakesh, Cadi Ayyad University, Marrakesh, Morocco
*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.