Article
[A new observation of cherry-red spot myoclonus syndrome (author's transl)].
Acta neurologica Belgica - 1 Jan 2000
Martin J J
Abstract excerpt
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...
Topics
- Adult
- Fibroblasts
- Humans
- Leukocytes
- Male
- Myoclonus
- Neuraminidase
- Peripheral Nerves
- Phenotype
- Schwann Cells
- Syndrome
- Vision Disorders