胼胝体、锥体束和周围神经变性一家系报告

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育，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痉挛性截瘫伴智能发育倒退、胼胝体发育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。

Hereditary pyramidal tract, corpus callosum and peripheral degeneration, one family report

Objective To report on an autosomal recessive pyramidal tract, corpus callosum and peripheral nerve degeneration in a family and to study its relationship with other complicated hereditary spastic paraparesis. Methods Neurological examination revealed the following findings. Proband was a 20 year old man who spoke slowly and developed mental retardation in his childhood. Gait disturbance with pyramidal signs and mild cerebellar ataxia were found when the patient was 16. Slight sensory disturbance was present in the lower extremities. His 23 year old sister had similar symptoms at beginning of disease when she was 17. Their clinical courses were bad progressively. Electromyogram showed nerve conduction velocity decrease in the nerve medianus and neurogenic process in the muscle tibialis anterior. Cranial MRI, muscle and nerve suralis biopsies were examined in proband patients. Results MRI showed thin corpus callosum with cerebral and cerebellar atrophy as well as enlargement of ventricle system. Myopathological findings were characterized by angular atrophy fibers in small groups with appearance of hypertrophy fibers. The nerve suralis biopsy showed degeneration and regeneration of myelinated axons. Conclusion Our study confirms that this family is hereditary spastic paraparesis with mental retardation, thin corpus callosum and polyneuropathy reported mostly in Japan. Axonal polyneuropathy is a common pathological feature of this disease.