SIALIDOSIS - CHERRY-RED SPOT-MYOCLONUS SYNDROME
- 1 January 1980
- journal article
- research article
- Vol. 15 (1), 35-39
Abstract
The sialidoses are a group of storage disorders of autosomal recessive inheritance. Sialidosis is characterized by deficiency of lysosomal neuraminidase (sialidase) activity and associated sialyloligosacchariduria. Patients with 1 type of sialidosis may present initially to the ophthalmologist because of a cherry-red spot at the macula. In most of these patients progressive neurologic deficits ultimately develop; myoclonus is a prominent feature. A patient with the so-called cherry-red spot-myoclonus syndrome is described. A marked deficit occurred of the ocular smooth pursuit system, with consequent nystagmus. The visual system was normal clinically and electrophysiologically despite the obvious storage in the retinal ganglion cells.This publication has 7 references indexed in Scilit:
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