[Ramsay-Hunt's syndrome: a case report with pathological examination (author's transl)].
A patient developed dyssynergia cerebellaris myoclonica, following an epileptic attack at the age of 19 years, with the progressive onset of involuntary movements and a cerebellar syndrome. He was second of a family of six children in which the same affection was present in the older sister while the four others were not affected. The involuntary movements corresponded to krebs type III intentino myoclonus, to massive myoclonic movements, and Krebs type I fibrillary myoclonia. The E.E.G. changes were typical, particularly the constant reinforcement of epileptic potential by photic stimulation. Completely disabled at 35 years, the patient was hospitalized at age 51 and kept under observation for 18 months. The per os administration of 5-hydroxytryptophane (5-H.T.P.), 150 mg daily, without a decarboxylase inhibitor, resulted in a spectacular reduction of the myoclonic movements and a marked improvement in autonomy. The patient died at 53 years of age from deglutition disorders related to oropharyngeal myoclonus. Pathological examination revealed no abnormalities in the brain, particularly in the dentate nuclei and the superior cerebellar penduncles. The only lesions observed were in the spinal cord: atrophy and demyelinization of Goll's columns and of the posterior lumbar and dorsal roots, and slight atrophy of the lateral funiculi. This case raises the problem of the relationship between myoclonus and lesions of the dentate nucleus, observed in 13 out of 16 cases of anatomically confirmed D.C.M., and lesions of its efferent pathways, present in 8 cases out of 16. The case reported here is the only one with an isolated spinal cord lesion, apart from that of Bradshaw in which no lesion was found but the cord had not been examined. The improvement obtained with the precursor of serotonin, 5-H.T.P. in the Lance and Adams syndrome (in which the intention myoclonus is semiologically very close to that of D.C.M., whatever their respective lesions), suggests that pathogenic studies should be carried out along biochemical lines. Though all authors do not agree, many accept a disturbance in serotoninergic pathways in the genesis of intentional myoclonus. The improvement in clinical signs and symptoms obtained in the present case with low doses of 5-H.T.P. brings additional evidence in favor of this hypothesis.
D002524:Cerebellar Ataxia / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D002527:Myoclonic Cerebellar Dyssynergia / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D010375:Pedigree
Syndrome de Ramsay-Hunt. Etude anatomique d'un cas.