Mongolian spots in GM1 gangliosidosis: a pictorial report

Mishra, Shivani and Pai, Pranita and Uttarilli, Anusha and Katta, Girisha M (2021) Mongolian spots in GM1 gangliosidosis: a pictorial report. Clinical Dysmorphology, 30 (1). pp. 6-9. ISSN 0962-8827

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Abstract

GM1 gangliosidosis is a lysosomal storage disorder,characterized by psychomotor deterioration,visceromegaly, facial coarseness, retinal cherry-red spots, and skeletal abnormalities. We report six unrelated patients with GM1 gangliosidosis with extensive Mongolian spots on the trunk and extremities that provided clue to clinical diagnosis. All patients exhibited psychomotor delay, coarse facies, hepatosplenomegaly,hypotonia, and dysostosis multiplex. Four patients had retinal cherry-red spots. The condition was confirmed by identification of very low activities of beta-galactosidase enzyme in peripheral leukocytes and biallelic pathogenic variants in the GLB1 gene. We identified one novel (c.1479G>T) and two known (c.75 + 2dup and c.1369C>T) pathogenic variants in homozygous state in them. Our work ascertains extensive Mongolian spots as a diagnostic handle for early recognition of GM1 gangliosidosis. Though a known feature of GM1 gangliosidosis, considerable variation in the prevalence and ethnic differences are observed. This report illustrates the Mongolian spots pictorially in Indian patients

Item Type: Article
Uncontrolled Keywords: Beta-galactosidase; Cherry-red spot; GLB1; GM1 gangliosidosis; Lysosomal storage disorderL Mongolian spot; Neurodegeneration
Subjects: Medicine > KMC Manipal > Medicine
Depositing User: KMC Library
Date Deposited: 12 Mar 2021 07:01
Last Modified: 12 Mar 2021 07:01
URI: http://eprints.manipal.edu/id/eprint/156539

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