title: GM1gangliosidosis: Clinical and radiological clue to diagnosis.
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.
authors.affiliation: Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Renu
authors.initials: R
authors.lastname: Suthar
authors.forename: Jitendra K
authors.initials: JK
authors.lastname: Sahu
authors.forename: Pratibha
authors.initials: P
authors.lastname: Singhi
keywords: Cherry red spot; GM1gangliosidosis; dysotosis multiplex; thalamic hyperintensity
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