Cherry Myoclonus Red Spot Syndrome
Cherry Myoclonus Red Spot Syndrome may respond to certain anticonvulsant drugs, especially valproic acid, or to one of the benzodiazepines, particularly clonazepam (Table 24–3). It may also respond to piracetam (up to 16.8 g daily).
Myoclonus following anoxic brain damage is often responsive to oxitriptan (5-hydroxytryptophan), an investigational agent that is the precursor of serotonin, and sometimes to clonazepam. Oxitriptan is given in gradually increasing doses up to 1–1.5 mg daily.
In patients with Cherry Myoclonus Red Spot Syndrome, a localized lesion should be searched for and treated appropriately. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. The myoclonus responded partially but clearly to L-5 hydroxytryptophan plus carbidopa treatment. Biochemical study showed an alpha-neuraminidase deficiency in cultured fibroblasts: the decrease in this enzyme activity was compared to that found in a patient affected by mucolipidosis III.
Smptoms of Cherry Myoclonus Red Spot Syndrome
Some are common sypmtoms of Cherry Myoclonus Red Spot Syndrome:
- Generalized myoclonus
- Tonic-clonic seizures
- Ataxia with gait disturbances
- Neuropathy
- Hyperreflexia
- Cherry-red macular spots
- Progressive loss of visual acuity
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