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- Title
GM1 gangliosidosis: Clinical and radiological clue to diagnosis.
- Authors
Suthar, Renu; Sahu, Jitendra K.; Singhi, Pratibha
- Abstract
GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme β-galactosidase, resulting in progressive neural and visceral accumulation of GM1gangliosides. Coarse facial features, bilateral cherry red spots, and dysostosis multiplex are important clue to diagnose this condition. We describe a case of GM1gangliosidosis with dysostosis multiplex and characteristic magnetic resonance imaging findings.
- Subjects
SPHINGOLIPIDOSES; FAILURE to thrive syndrome; MAGNETIC resonance imaging; SPLEEN diseases; DIAGNOSIS
- Publication
Journal of Pediatric Neurosciences, 2012, Vol 7, Issue 3, p179
- ISSN
1817-1745
- Publication type
Article
- DOI
10.4103/1817-1745.106472