Nishimura M, Yoshino K, Tomita Y, Takashima S, Tanaka J, Narisawa K, Kurobane I
Division of Child Neurology, Tottori University School of Medicine, Yonago, Japan.
Pediatr Neurol. 1985 Nov-Dec;1(6):375-8. doi: 10.1016/0887-8994(85)90076-1.
An autopsy case of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency is presented. A 15-year-old boy had mental retardation, epilepsy, and peripheral neuropathy. A sural nerve biopsy revealed a decreased number of myelinated fibers, abnormally thick myelinated fiber groups, and numerous thinner unmyelinated fibers. The autopsy study revealed unusual findings of peripheral neuropathy and spheroid formation in addition to arterial structural abnormalities and perivascular demyelination which are common in cases of homocystinuria. The peripheral neuropathy and spheroid formation may be related to the low level of serum folic acid. The presence of peripheral neuropathy should be ascertained in cases of 5,10-methylenetetrahydrofolate reductase deficiency.
本文报告一例因5,10-亚甲基四氢叶酸还原酶缺乏导致的同型胱氨酸尿症尸检病例。一名15岁男孩患有智力发育迟缓、癫痫和周围神经病变。腓肠神经活检显示有髓纤维数量减少、有髓纤维组异常增厚以及许多较细的无髓纤维。尸检研究发现，除了同型胱氨酸尿症病例中常见的动脉结构异常和血管周围脱髓鞘外，还存在周围神经病变和球状形成的异常发现。周围神经病变和球状形成可能与血清叶酸水平低有关。在5,10-亚甲基四氢叶酸还原酶缺乏的病例中，应确定是否存在周围神经病变。
