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