[A case of progressive myoclonus epilepsy with the first and second branchial syndrome].
A 22-year-old woman with progressive myoclonus epilepsy associated with the first and second branchial syndrome is described. Clinical features included generalized convulsive seizure, myoclonus, cerebellar ataxia and intellectual deterioration with micrognathia and malformation of auricles. She was initially suspected of mitochondrial encephalomyopathy, but the analysis of muscle biopsy and mitochondrial enzyme activities was negative. Her micrognathia and malformation of auricles were diagnosed as the first and second branchial syndrome. The case of progressive myoclonus epilepsy associated with this syndrome has never been reported, and the relationship between them remains unknown.
Kawai
M
M
Department of Neurology, Yamaguchi University School of Medicine.
Yamamoto
K
K
Takase
Y
Y
Fukusako
T
T
Morimatsu
M
M
D000328:Adult; D001934:Branchial Region; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006801:Humans; D013577:Syndrome