双下肢无力，脑白质病变，脑萎缩是先天性免疫缺陷病的神经系统表现吗？  

Paraparesis, leucodystrophy and brain atrophy are neurological manifestations of congenital immunodeficiency disease ？

作　　者：杨璐[1] 李保敏[1] 雷革非[1] 鞠秀丽[1] 孙若鹏[1] Fang Lu;Li Baomin;Lei C.efei;Ju Xiuli;Sun Ruopeng(Department of Pediatrics,Qilu Hospital of Shandong University,Jinan 250012,China)

机构地区：[1]山东大学齐鲁医院儿科,济南250012

出　　处：《中华实用儿科临床杂志》2018年第17期1341-1344,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：患儿，男，4岁，因“双下肢无力1．5个月”入院。该患儿1岁时曾确诊患有X-连锁无丙种球蛋白血症（XLA）。近1．5个月来逐渐出现活动后易疲劳、不能蹦跳、不能跑步、走路慢、步态不稳、语速减慢，运动功能进行性损伤。颅脑磁共振成像提示脑白质区多发异常信号及脑萎缩。脑脊液中寡克隆区带阳性。在应用丙种球蛋白及激素治疗后，短期内患儿下肢运动功能及语速有轻微改善。经过1年的随访，患儿病情加重，不能独坐、吞咽困难、无语言交流，查体示假性球麻痹及四肢痉挛性瘫痪。提示XLA患者出现神经系统症状并不多见，临床中应积极行病理检查明确病因。A 4 - year - old boy complained of weakness of the lower limbs for one and a half month. The child had been diagnosed as X - linked agammaglobulinemia （ XLA ） at 1 - year old. In recent one and a half month, he gradually suffered from activity intolerance and fatigue, inability to jump and run, staggering gait and slow speech. All the symptoms above indicated deteriorating motor function. The brain magnetic resonance imaging revealed abnormal signals in white matter and brain atrophy. The cerebrospinal fluid analysis detected the presence of oligoclonal immunoglobulin G band. In short term after intravenous immunoglobulin and methylprednisolone treatment, the boy＇s lower extremity function and speech speed were slightly improved. However, at 1 - year follow - up, the boy＇s condition became even worse. The child could not sit without support and had difficulty in swallowing. The child could not speak or follow any commands. Neurological examination revealed spastic quadriplegia and pseudobulbar palsy. Progressive neurodegeneration is not a common syndrome in patients with XLA. Brain biopsy is an important approach clinically to find out etiology.

关 键 词：瘫痪 脑白质病变 脑萎缩 X-连锁无丙种球蛋白血症 

分 类 号：R725.9[医药卫生—儿科]