Paraparesis, leucodystrophy and brain atrophy are neurological manifestations of congenital immunodeficiency disease?
10.3760/cma.j.issn.2095-428X.2018.17.014
- VernacularTitle: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?
- Author:
Lu YANG
1
;
Baomin LI
;
Gefei LEI
;
Xiuli JU
;
Ruopeng SUN
Author Information
1. 山东大学齐鲁医院儿科
- Keywords:
Paralysis;
Leucodystrophy;
Brain atrophy;
X-linked agammaglobulinemia
- From:
Chinese Journal of Applied Clinical Pediatrics
2018;33(17):1341-1344
- CountryChina
- Language:Chinese
-
Abstract:
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.
