GM1gangliosidosis: Clinical and radiological clue to diagnosis

Citation metadata

Date: September-December 2012
From: Journal of Pediatric Neurosciences(Vol. 7, Issue 3)
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Article
Length: 638 words
Lexile Measure: 1480L

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Byline: Renu. Suthar, Jitendra. Sahu, Pratibha. Singhi

GM1gangliosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of enzyme [sz]-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.

Introduction

Lysosomal storage disorders are rare disorders caused by genetically transmitted lysosomal enzyme deficiencies. Classic neuroimaging findings described in GM2 gangliosidosis is hyperdense signal in bilateral thalami in non-contrast computed tomography (NCCT) scan and hypointensity in T2 weighted MRI images. Similar neuroimaging findings can be seen in other lysosomal storage disorders also. Hyperdens thalamus in NCCT head in a child with neuroregrssion, facial dysmorphism and organomegaly, should lead us to think about GM1 gangliosidosis.

Clinical Profile

A 16-month-old girl presented with history of regression of mile stones for last 6 months. Psychomotor development was normal until...

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Gale Document Number: GALE|A322815534