[A new observation of cherry-red spot myoclonus syndrome (author's transl)].
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).
D000328:Adult; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009207:Myoclonus / Q000150:complications / Q000235:genetics*; D009439:Neuraminidase / Q000097:blood / Q000172:deficiency*; D010525:Peripheral Nerves / Q000473:pathology; D010641:Phenotype; D012583:Schwann Cells / Q000473:pathology; D013577:Syndrome; D014786:Vision Disorders / Q000150:complications / Q000235:genetics*
D009439:Neuraminidase
A propos d'une nouvelle observation de "cherry-red spot myoclonus syndrome".