Rationale: 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.
Patient Concerns: 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.
Diagnosis: We made a diagnosis of late infantile GM1 gangliosidosis through enzyme assays and genetic testing after a skeletal survey.
Interventions: The patient underwent cervical domeplasty and laminectomy for cord compression and received rehabilitation treatment.
Outcomes: The patient is receiving multidisciplinary care at a tertiary center for variable skeletal disease and conditions associated with GM1 gangliosidosis.
Lessons: Late infantile GM1 gangliosidosis should be considered in the differential diagnosis of progressive neurologic decline and skeletal dysostosis.
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| http://dx.doi.org/10.1097/MD.0000000000028435 | DOI Listing |
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Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda MD USA.
GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.
View Article and Find Full Text PDFQuantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.
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Image Processing and Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, United States.
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Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cells.
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Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA 92868, United States; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92697, United States. Electronic address:
GM1 gangliosidosis is an autosomal recessive neurodegenerative lysosomal storage disease caused by pathogenic variants in the GLB1 gene, limiting the production of active lysosomal β-galactosidase. Phenotypic heterogeneity is due in part to variant type, location within GLB1, and the amount of residual enzyme activity; in the most severe form, death occurs in infancy. With no FDA approved therapeutics, development of efficacious strategies for the disease is pivotal.
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