著者

安井 昌之 向山 昌邦 横井 風児 足立 皓岑 若山 育郎 三谷 和男 八瀬 善郎 吉田 博信 吉益 文夫 大田 喜一郎

出版者

一般社団法人 日本内科学会

雑誌

日本内科学会雑誌 (ISSN:00215384)

巻号頁・発行日

vol.78, no.1, pp.85-86, 1989-01-10 (Released:2008-06-12)

参考文献数

10

被引用文献数

1 1

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孤発性の筋萎縮性側索硬化症(ALS)6例,神経学的に正常な対照5例の中枢神経組織(CNS)26部位について放射化分析法でアルミニウム(A1)を測定し, 2例のALSで高Al含有量を認めた.症例Iで136.5±99.3μg/g dry weight (Mean±SD),症例IIは88.3±52.0μg/g,他のALS4例で28.0±14.3μg/g,対照群は25.8±8.1μg/gであった.孤発性ALSのCNS内に高Alが沈着した2例を報告した.

著者

祖父江 逸郎 向山 昌邦

出版者

The Japanese Society of Child Neurology

雑誌

脳と発達 (ISSN:00290831)

巻号頁・発行日

vol.5, no.6, pp.507-512, 1973-11-01 (Released:2011-05-24)

参考文献数

9

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Three cases of myotubular myopathy (8 years girl, 9 years girl and 13 years boy) were reported. Age of onset was at birth in 2 cases and 1 year after birth in one case. No heredity was found in all cases.The clinical course was progressive in 2 cases and stationary in one case. Neurological examinations revealed proximal dominant muscular weakness, decreased deep reflexes, facial muscle weakness and no sensory disturbances in all cases, abnormalities of ocular movement in 2 cases and impairment of intelligence in one case.Muscle biopsy showed centrally situated nuclei, halo around the nuclei and type I fiber atrophy which are characteristic to myotubular myopathy. Electromyographic findings were low amplitude potential, short duration and fibrillation potential. Values of serum enzymes were within normal limit. Blood chemistries were all negative.Fairly close relation was found between clinical progression and ratio of the affected fibers observed in muscle biopsy.Pathogenisis of this disease was discussed from the clinical and pathological findings.