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目的 报道一个以胼胝体、锥体束和周围神经变性为主要表现特点的隐性遗传性家族 ,探讨与其他复合型遗传性痉挛性截瘫的关系。方法 家族中姐弟二人发病 ,临床表现及脑电图、肌电图符合此病特点。对病人进行头颅MRI检查 ,并对先证者 (弟弟 )进行神经和肌肉活检。结果 MRI检查显示胼胝体发育不良、大脑和小脑轻度萎缩以及脑室系统扩大。肌肉活检显示肌纤维出现肥大和萎缩 ,萎缩肌纤维成组分布 ,神经活检显示小有髓神经纤维变性和再生簇形成。结论 我们发现的这个家系可能与日本人报道的隐性遗传性痉挛性截瘫伴智能发育倒退、胼胝体发育不良和周围神经病属于同一类疾病 ,轴索性周围神经病是此病的一个常见病理改变。
Objective To report a recessive hereditary family characterized by corpus callosum, pyramidal tract and peripheral nerve degeneration and explore the relationship with other complex hereditary spastic paraplegia. Method Two siblings in the family incidence, clinical manifestations and electroencephalogram, electromyography consistent with the characteristics of the disease. Head MRI examination of the patient, and the proband (brother) for nerve and muscle biopsy. Results MRI examination revealed corpus callosum dysplasia, mild atrophy of the brain and cerebellum, and enlargement of the ventricular system. Muscle biopsy showed hypertrophy and atrophy of myofibers, atrophy of myofibers in groups, and nerve biopsy showed degeneration of myelinated fibers and formation of regenerative clusters. Conclusions We found that this pedigree may be associated with the Japanese reported retarded hereditary spastic paraplegia retarded intelligence development, corpus callosum hypoplasia and peripheral neuropathy belong to the same group of diseases, axial peripheral neuropathy is a common pathological changes in the disease.