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 NEUROIMAGING
Year : 2012  |  Volume : 7  |  Issue : 3  |  Page : 179-180

GM1gangliosidosis: Clinical and radiological clue to diagnosis


Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Pratibha Singhi
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.106472

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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.






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