Summary
An 18-year-old boy showed childhood onset of mental retardation, neurogenic muscle atrophy with hyperreflexia, Marfan-like features, multiple epiphyseal dysplasia, increased urinary excretion of dermatan sulfate, and decreased lysosomal enzyme activities in β-galactosidase, β-glucuronidase, and N-acetyl-β-d-glucosaminidase. This case may be a new syndrome, the combination of neurogenic muscle atrophy with lysosomal enzyme deficiencies.
Zusammenfassung
Bei einem 18jährigen Jüngling hatten sich im Verlauf der Kindheit eine zunehmende geistige Retardierung, eine neurogene Muskelatrophie mit Hyperreflexie, Marfan-artige Besonderheiten und multiple Dysplasien der Epiphysen entwickelt. Im Harn fand sich eine vermehrte Ausscheidung von Dermatansulfat. Es wurde eine verminderte Aktivität lysosomaler Enzyme nachgewiesen, nämlich von β-Galactosidase, β-Glucuronidase und N-acetyl-β-d-Glucosaminidase.
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This study was supported by Grant No. 81-02 from the National Center for Nervous, Mental, and Muscular Disorders (NCNMMD) of Ministry of Health and Welfare, Japan
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Goto, I., Nakai, H., Tabira, T. et al. Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?. J Neurol 229, 45–54 (1983). https://doi.org/10.1007/BF00313495
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DOI: https://doi.org/10.1007/BF00313495