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Monosialotetrahexosylganglioside (GM1) gangliosidosis is a rare lysosomal storage disorder caused by the deficiency of ß-galactosidase. Because clinical symptoms of GM1 gangliosidosis overlap with other neurodevelopmental disorders, the diagnosis of this disease is not easy, specifically in late infantile GM1 gangliosidosis. This report described a case of late-infantile GM1 gangliosidosis mistaken for juvenile idiopathic arthritis. A 16-year-old girl was referred to our hospital due to persistent multiple joint deformities and mental retardation, which could not be explained by juvenile idiopathic arthritis. We made a diagnosis of late infantile GM1 gangliosidosis through enzyme assays and genetic testing after a skeletal survey. The patient underwent cervical domeplasty and laminectomy for cord compression and received rehabilitation treatment. The patient is receiving multidisciplinary care at a tertiary center for variable skeletal disease and conditions associated with GM1 gangliosidosis. Late infantile GM1 gangliosidosis should be considered in the differential diagnosis of progressive neurologic decline and skeletal dysostosis. Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.


Eu Seon Noh, Hye Mi Park, Min Sun Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin. Late-infantile GM1 gangliosidosis: A case report. Medicine. 2022 Jan 07;101(1):e28435

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PMID: 35029890

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