背景:原发性免疫缺陷病(PID)由反复感染定义,过敏,自身免疫,和恶性肿瘤。神经系统症状是一些免疫缺陷综合征的主要组成部分之一,如共济失调-毛细血管扩张(AT),奈梅亨破损综合征(NBS),嘌呤核苷磷酸化酶(PNP)缺乏症,这被认为是主要的参与。各种病理机制,DNA修复障碍,代谢异常,自身免疫现象也与神经系统疾病有关。
方法:我们回顾性评估了本研究中6000例PID患者中108例的神经系统受累情况。
结果:病例的男女比例为49/59,中位年龄为13岁(min=1;max=60)。在中位年龄为7岁时检测到神经系统问题(min=0.5;max=30)。DiGeorge综合征(DGS)和CVID(常见可变免疫缺陷)是我们队列中最常见的疾病(n=31,30%和n=30,27%,分别)。最常见的结果是认知延迟(n=63,58%),癫痫(n=25,23%),和共济失调(n=20,18%)。在99%的患者中发现中枢神经系统受累(n=107),仅在一名患有CVID和慢性炎症性脱髓鞘性多发性神经病(CDIP)的患者中发现了周围神经系统并发症。74%(n=80)的患者发现颅骨MRI异常。MRI检查结果包括小脑萎缩(n=33,34%),白质病变(n=27,28.4%),脑萎缩(n=21,22.3%),灰质病变(n=6,6.3%),脑积水(n=5,5.3%),和垂体腺病变(n=3,3.2%),颅内出血(n=3,3%),颅内血管炎(n=3,2.7%),动静脉畸形(n=1,0.9%)。原发性受累(疾病的组成部分)为60%(n=65),在患者中,继发性(感染或自身免疫)和三级受累(结构性或偶然病变)各占20%(n=20)。
结论:在这项研究中,我们描述了PID患者的各种神经系统检查结果。神经表现可以表示某些类型的PID的初始表现。早期诊断和治疗对于预防或减少进一步的神经系统损害至关重要。
BACKGROUND: Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakage syndrome (NBS), and Purine Nucleoside Phosphorylase (PNP) deficiency, which are considered as the primary involvement. Various pathological mechanisms, DNA repair disorders, metabolic abnormalities, and autoimmune phenomena have also been linked with neurological conditions.
METHODS: We retrospectively assessed the neurological involvement in 108 patients out of 6000 with PID in this study.
RESULTS: The female/male ratio of the cases was 49/59, and the median age was 13 years (min = 1; max = 60). Neurological problems were detected at a median age of 7 years (min = 0.5; max = 30). Di George Syndrome (DGS) and CVID (common variable immunodeficiency) were the most common diseases in our cohort (n = 31, 30% and n = 30, 27%, respectively). The most frequent outcomes were cognitive delay (n = 63, 58%), epilepsy (n = 25, 23%), and ataxia (n = 20, 18%). Central nervous system involvement was found in 99% of the patients (n = 107), and peripheral nervous system complication was found in only one patient with CVID and chronic inflammatory demyelinating polyneuropathy (CDIP). Cranial MRI was found to be abnormal in 74% (n = 80) of the patients. MRI findings included cerebellar atrophy (n = 33, 34%), white matter lesion (n = 27, 28.4%), cerebral atrophy (n = 21, 22.3%), gray matter lesion (n = 6, 6.3%), hydrocephalus (n = 5, 5,3%), and pituitary gland lesion (n = 3, 3.2%), intracranial hemorrhage (n = 3, 3%), intracranial vasculitis (n = 3, 2.7%), and arterio-venous malformation (n = 1, 0,9%). Primary involvement (a component of the disease) was 60% (n = 65), and secondary (infection or autoimmunity) and tertiary involvements (structural or incidental lesions) contributed 20% (n = 20) each in the patients.
CONCLUSIONS: In this study, we describe the various neurologic findings of patients with PID. The neurologic presentation may represent the initial manifestation of certain types of PID. Early diagnosis and treatment are essential to prevent or reduce further neurologic damages.