[A new observation of cherry-red spot myoclonus syndrome (author's transl)].

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).

• Authors: J J Martin
• Journal: Acta neurologica Belgica (Acta Neurol Belg) 1980 Jan-Feb Vol. 80 Issue 1 Pg. 30-6 ISSN: 0300-9009 [Print] Italy
• Vernacular Title: A propos d'une nouvelle observation de "cherry-red spot myoclonus syndrome".
• PMID: 7361541 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Neuraminidase

Topics

• Adult
• Fibroblasts (enzymology)
• Humans
• Leukocytes (enzymology)
• Male
• Myoclonus (complications, genetics)
• Neuraminidase (blood, deficiency)
• Peripheral Nerves (pathology)
• Phenotype
• Schwann Cells (pathology)
• Syndrome
• Vision Disorders (complications, genetics)