• Eu Seon Noh, Hye Mi Park, Min Sun Kim, Hyung-Doo Park, Sung Yoon Cho, and Dong-Kyu Jin.
• Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
• Medicine (Baltimore). 2022 Jan 7; 101 (1): e28435.

RationaleMonosialotetrahexosylganglioside (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.Patient ConcernsA 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.DiagnosisWe made a diagnosis of late infantile GM1 gangliosidosis through enzyme assays and genetic testing after a skeletal survey.InterventionsThe patient underwent cervical domeplasty and laminectomy for cord compression and received rehabilitation treatment.OutcomesThe patient is receiving multidisciplinary care at a tertiary center for variable skeletal disease and conditions associated with GM1 gangliosidosis.LessonsLate 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.

22 keywords...

hide…