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  • Title: [A new observation of cherry-red spot myoclonus syndrome (author's transl)].
    Author: Martin JJ.
    Journal: Acta Neurol Belg; 1980; 80(1):30-6. PubMed ID: 7361541.
    Abstract:
    A 24 year-old white male patient presents since 8 years progressive gait disturbances, myoclonic jerks and a decrease of eyesight. Clinical examination reveals features reminding of Ramsay Hunt dyssynergia cerebellaris myoclonica associated with cherry-red spots in the eyegrounds. The diagnosis of sialidosis is supported by the ultrastructural examination of skin-conjunctival biopsies and by the abnormal urinary excretion of sialyloligosaccharides. It is established by the demonstration of a deficiency of acid neuraminidase in leukocytes and cultured fibroblasts. The phenotypic spectrum of sialidosis is extremely wide; this case belongs to the cherry-red spot myoclonus syndrome (Rapin et al., 1978), also called sialidosis type 1 - normosomatic group (Lowden and O'Brien 1979).
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