Rinsho Shinkeigaku (Clinical Neurology)

Brief Clinical Note

A case of mitochondrial myopathy with external ophthalmoplegia and ataxic neuropathy

Atsushi Mano, M.D.1), Hironori Kikukawa, M.D.1), Toshiaki Tsuchiya, M.D.2), Keiko Tanaka, M.D.3) and Masami Tanaka, M.D.1)

1)Department of Neurology, National Nishi-Niigata Central Hospital, Niigata.
2)Department of Internal Medicine, National Nishi-Niigata central Hospital, Niigata.
3)Department of Neurology, Brain Research Institute, Niigata University, Niigata.

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 evorked. Brain MRI showed no pathological fidings. 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.

(CLINICA NEUROL, 43: 564－567, 2003)
key words: mitochondrial myopathy, external ophthalmoplegia, ataxic neuropathy, SANDO

(Received: 7-Apr-03)