Tatsumi C, Takahashi M, Yorifuji S, Nishikawa Y, Kitaguchi M, Hashimoto S, Tarui S
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Eur Neurol. 1988;28(2):64-9. doi: 10.1159/000116231.
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.
遇到一例罕见的线粒体脑肌病患者，伴有小脑共济失调、周围神经病变、智力发育迟缓以及经多导睡眠图证实的伴有睡眠呼吸暂停的肺泡低通气综合征。这种组合此前尚未见报道。从预后角度来看，伴有睡眠呼吸暂停的肺泡低通气综合征是该疾病实体的一个重要临床特征。辅酶Q10治疗6个月后，共济失调和丙酮酸代谢异常均未得到缓解。
