Open AccessGM1gangliosidosis: Clinical and radiological clue to diagnosis
Author(s) -
Renu Suthar,
Jitendra Kumar Sahu,
Pratibha Singhi
Publication year - 2012
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.106472
Subject(s) - medicine , multiplex , magnetic resonance imaging , radiological weapon , dysostosis , pathology , radiology , bioinformatics , congenital disease , biology
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.