Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis) &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; &nb 111i89b sp; 235
General: Morphologic changes in storage process in lysosomes of retinal ganglion cells, neurons of mesenteric plexus, hepatocytes, and Kupffer cells.
Ocular: Cherry-red spot of macula; horizontal nystagmus; white dot and flake lens changes; decreased visual acuity and gray perimacular halo.
Clinical: Development of a slowly progressive neurologic illness whose most crippling symptoms are myoclonus, seizures, decreased muscle tone, speech disorder, and hyperactive reflexes.
Engel J Jr, et al. Electrophysiological studies in two patients with cherry red spot-myoclonus syndrome. Epilepsia 1977; 18:73-87.
Neetens A, et al. Cherry red spot-ataxia-myoclonus. Bull Soc Belg Ophthalmol 1979; 186:67-76.
Rapin I. The cherry-red spot-myoclonus syndrome. Ann Neurol 1978; 3:234.
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