Osaka H, Kimura S, Nezu A, Kobayashi T, Aihara Y
Department of Pediatrics, Yokohama City University School of Medicine.
Rinsho Shinkeigaku. 1994 Jul;34(7):696-701.
We report a 21-year-old man with agammaglobulinemia and chronic progressive encephalopathy. The patient was diagnosed as having X-linked agammaglobulinemia at 6 months of age, and gamma globulin supplementation was initiated. He exhibited normal development until he was 11 years old, when he showed a decline in school performance and a personality change. Computed tomography images at that time disclosed diffuse cerebral atrophy. Several generalized tonic-clonic convulsions, myoclonus and spasticity appeared at the age of 13 years. He lost his ability to walk and speak at the age of 17 years old. He is currently 21 years old and displays severe mental deterioration and spastic tetraplegia. Magnetic resonance imaging showed progressive diffuse cerebral atrophy with no change in intensity. The cerebellum and the brain stem were relatively well maintained. Viral isolations were negative and serum antibody titers for rubella, measles, and human immune deficiency virus were not elevated. Our patient's symptoms resemble those previously reported as chronic progressive encephalopathy without viral isolation. This condition may be a complication of agammaglobulinemia. It is possible that the encephalopathy of our patient has the same etiology as that described in the other reports. Further attempts to identify the etiology of the encephalopathy using molecular techniques are necessary.
我们报告了一名患有无丙种球蛋白血症和慢性进行性脑病的21岁男性。该患者在6个月大时被诊断为X连锁无丙种球蛋白血症，并开始补充γ球蛋白。他在11岁之前发育正常，之后学习成绩下降且性格发生改变。当时的计算机断层扫描图像显示弥漫性脑萎缩。13岁时出现几次全身性强直阵挛性惊厥、肌阵挛和痉挛。17岁时他失去了行走和说话能力。他目前21岁，表现出严重的精神衰退和痉挛性四肢瘫。磁共振成像显示进行性弥漫性脑萎缩，强度无变化。小脑和脑干相对保存较好。病毒分离结果为阴性，风疹、麻疹和人类免疫缺陷病毒的血清抗体滴度未升高。我们患者的症状与先前报道的无病毒分离的慢性进行性脑病相似。这种情况可能是无丙种球蛋白血症的一种并发症。我们患者的脑病病因有可能与其他报告中描述的相同。有必要进一步尝试使用分子技术确定脑病的病因。
