Mano Atsushi, Kikukawa Hironori, Tsuchiya Toshiaki, Tanaka Keiko, Tanaka Masami
Department of Neurology, National Nishi-Niigata Central Hospital, Niigata.
Rinsho Shinkeigaku. 2003 Sep;43(9):564-7.
We report a 70-year-old woman with bilateral optic atrophy, external ophthalmoplegia, bilateral blepharoptosis, and sensory ataxic neuropathy. She had a visual disturbance since childhood. She had dysarthria and gait disturbance at 28 years old. She had bilateral blepharoptosis, marked gait disturbance and dysphagia at 50. On neurological examination, external ophthalmoplegia, bilateral blepharoptosis, mild weakness and muscular atrophy of promixal muscles, hyporeflexia, positive Romberg sign, glove and stocking type sensory disturbance including hypesthesia, hypalgesia, and bathyhypesthesia were found. She did not show pigmented retinopathy, cognitive dysfunctions, hearing loss, cerebellar ataxia, Hoffman reflex nor Babinski sign. She did not show increased lactic acid nor pyruvic acid in the cerebrospinal fluid but mild increase of pyruvic acid (1.0 mg/dl) in her serum. The conduction velocity and amplitude of CMAP of tibial nerve was 37.4 m/sec and 2.9 mV, respectively. The SNAP of ulner and sural nerve were not evoked. Brain MRI showed no pathological findings. Muscle biopsy from the biceps muscle showed many ragged-red fibers (5.3%) and some fibers with decreased or absent COX activity. Sural nerve biopsy showed a marked loss of large myelinated fibers with thin myelinated fibers, and onion-bulb formation. The clinical findings of our patient is similar to that of SANDO (the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis), however, large mtDNA deletion reported by Fadic in patients with SANDO was not found in our patient. It might be possible that her mtDNA deletion is small or point mutation is existed.
我们报告一名70岁女性，患有双侧视神经萎缩、眼外肌麻痹、双侧上睑下垂和感觉性共济失调性神经病。她自幼视力障碍。28岁时出现构音障碍和步态障碍。50岁时出现双侧上睑下垂、明显的步态障碍和吞咽困难。神经系统检查发现眼外肌麻痹、双侧上睑下垂、近端肌肉轻度无力和肌肉萎缩、反射减退、闭目难立征阳性、手套和袜套型感觉障碍，包括感觉减退、痛觉减退和深度感觉减退。她未出现色素性视网膜病变、认知功能障碍、听力丧失、小脑共济失调、霍夫曼征或巴宾斯基征。脑脊液中乳酸和丙酮酸未升高，但血清中丙酮酸轻度升高（1.0mg/dl）。胫神经复合肌肉动作电位（CMAP）的传导速度和波幅分别为37. m/sec和2.9mV。未引出尺神经和腓肠神经的感觉神经动作电位（SNAP）。脑部磁共振成像（MRI）未发现病理改变。肱二头肌肌肉活检显示许多破碎红纤维（5.3%）和一些细胞色素氧化酶（COX）活性降低或缺失的纤维。腓肠神经活检显示大的有髓纤维明显减少，伴有细的有髓纤维和洋葱球样结构形成。我们患者的临床表现与感觉性共济失调性神经病、构音障碍和眼肌麻痹三联征（SANDO）相似，然而，我们的患者未发现Fadic报道的SANDO患者中的大片段线粒体DNA（mtDNA）缺失。她的mtDNA缺失可能很小或存在点突变。
