Byrne E, Dennett X, Trounce I, Burdon J
J Neurol Sci. 1985 Dec;71(2-3):273-81. doi: 10.1016/0022-510x(85)90065-6.
A 55-year-old man is presented who developed severe multifocal myoclonus and tonic clonic seizures in his early thirties, and progressive limb weakness in his mid forties, when a ragged red fibre myopathy was diagnosed. He went on to develop a distal motor neuropathy and respiratory failure. Respiratory function tests indicated respiratory failure secondary to respiratory muscle weakness and a central hypoventilation syndrome. CT scan revealed brain stem atrophy and brain stem evoked responses were abnormal. A sural nerve biopsy showed severe axonal degeneration. Cytochrome difference spectra and polarographic studies on isolated intact muscle mitochondria were normal. This study reports the association of respiratory failure and sleep apnoea with Fukuhara's syndrome and presents biochemical data suggesting that the mitochondrial respiratory chain may be intact in some patients with this syndrome.
一名55岁男性患者，在三十出头时出现严重的多灶性肌阵挛和强直性阵挛发作，四十多岁时出现进行性肢体无力，当时被诊断为破碎红纤维肌病。随后他又发展为远端运动神经病和呼吸衰竭。呼吸功能测试表明，呼吸衰竭继发于呼吸肌无力和中枢性通气不足综合征。CT扫描显示脑干萎缩，脑干诱发电位异常。腓肠神经活检显示严重的轴索性变性。对分离的完整肌肉线粒体进行的细胞色素差异光谱和极谱研究正常。本研究报告了呼吸衰竭和睡眠呼吸暂停与深浦综合征的关联，并提供了生化数据，表明该综合征的一些患者线粒体呼吸链可能完整。
