Mitochondrial encephalomyopathy with sleep apnea.
A rare case with mitochondrial encephalomyopathy, in association with cerebellar ataxia, peripheral neuropathy, mental retardation and alveolar hypoventilation syndrome with sleep apnea, as demonstrated by polysomnography, was encountered. This combination has not been described previously. From a prognostic point of view, alveolar hypoventilation syndrome with sleep apnea is an important clinical feature is this disease entity. Neither ataxia nor the abnormality of pyruvate metabolism was alleviated after 6 months of therapy with coenzyme Q10.
Tatsumi
C
C
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Takahashi
M
M
Yorifuji
S
S
Nishikawa
Y
Y
Kitaguchi
M
M
Hashimoto
S
S
Tarui
S
S
D001927:Brain Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000378:metabolism*; D006801:Humans; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology / Q000648:ultrastructure*; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D011773:Pyruvates / Q000097:blood; D019289:Pyruvic Acid; D011859:Radiography; D012891:Sleep Apnea Syndromes / Q000150:complications / Q000503:physiopathology*; D014451:Ubiquinone / Q000627:therapeutic use
D007773:Lactates; D011773:Pyruvates; D014451:Ubiquinone; D019344:Lactic Acid; D019289:Pyruvic Acid