An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system.
We describe a sporadic case of adult-onset, complex I deficiency mitochondrial encephalomyopathy (MEM), the clinical and pathological features of which failed to fit any of the known subgroups of MEM, such as Kearns-Sayre syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes or myoclonus epilepsy with ragged-red fibers. Clinically, this patient had only progressive cerebellar ataxia, generalized muscle weakness and hearing loss. The principal finding at autopsy was degeneration of the olivo-ponto-cerebellar system. This case suggests that mitochondrial disease could underlie some cases of olivo-ponto-cerebellar atrophy.
Kageyama
Y
Y
Department of Neurology, Hyogo Prefectural Hospital, Japan.
Ichikawa
K
K
Fujioka
A
A
Tsutsumi
A
A
Yorifuji
S
S
Miyoshi
K
K
D002531:Cerebellum / Q000473:pathology; D004679:Encephalomyelitis / Q000473:pathology*; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000502:physiology*; D009132:Muscles / Q000473:pathology; D009847:Olivary Nucleus / Q000473:pathology; D009849:Olivopontocerebellar Atrophies / Q000473:pathology*; D011149:Pons / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology