Neurology Department, Centro Hospitalar Universitário de São João, Porto, Portugal; Clinical Neuroscience and Mental Health Department, Faculty of Medicine, University of Porto, Porto, Portugal.
Allergy and Clinical Immunology Department, Centro Hospitalar Universitário de São João, Porto, Portugal.
Mult Scler Relat Disord. 2022 Nov;67:104086. doi: 10.1016/j.msard.2022.104086. Epub 2022 Aug 1.
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies characterized by impaired immunoglobulin production and dysregulated immune response. Neurological manifestations have been described in a few patients, and little is known about its clinic and therapeutic approach. Thus, this work aimed to review the literature on it and to help differentiate CVID from its mimics, especially sarcoidosis.
We described a case report and included a literature review of inflammatory neurological involvement in CVID.
A 32-year-old female patient with a medical history of recurrent bacterial infections, temporal focal epilepsy and granulomatous lung disease under study, and cervix squamous cell carcinoma, was initially admitted to the emergency department due to intracranial hypertension. After excluding infectious and neoplastic etiologies, the most likely hypothesis was that granulomatous pulmonary, cerebral, and leptomeningeal inflammatory involvement were associated with sarcoidosis. Two years later, a diagnosis of CVID was made, and the patient was secondarily diagnosed with Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) and related inflammatory brain disease - both complications of CVID. After starting targeted treatment with immunoglobulin replacement and pulse glucocorticoids followed by a chronic taper, the patient became stable. However, three consecutive failures in immunoglobulin intake during the COVID-19 pandemic led to disease recurrence with relapse of neurological manifestations.
This case illustrates the complex multiple organ manifestations of CVID. When granulomatous conditions arise in these patients, a rare lung disease arising in the context of CVID, the GLILD disease with multisystem involvement, should be taken into consideration. Early treatment with combined steroids and immunotherapy seems to be effective in controlling CVID's neurological manifestations.
普通变异型免疫缺陷病（CVID）是一组以免疫球蛋白产生受损和免疫反应失调为特征的原发性免疫缺陷病。已有少数患者出现神经系统表现的描述，但对其临床表现和治疗方法知之甚少。因此，本研究旨在对其进行文献复习，帮助将 CVID 与类肉瘤病等类似疾病区分开来。
我们描述了一个病例报告，并对 CVID 引起的炎症性神经病变进行了文献复习。
一名 32 岁女性患者，有反复发作性细菌感染、颞叶局灶性癫痫和正在研究中的肉芽肿性肺部疾病以及宫颈鳞状细胞癌病史，最初因颅内压升高而入住急诊科。在排除感染和肿瘤性病因后，最有可能的假设是肉芽肿性肺部、脑部和软脑膜炎症性受累与类肉瘤病有关。两年后，诊断为 CVID，患者继发诊断为肉芽肿性和淋巴细胞性间质性肺病（GLILD）和相关的炎症性脑部疾病——均为 CVID 的并发症。开始用免疫球蛋白替代治疗和脉冲糖皮质激素治疗后慢性减量，患者病情稳定。然而，在 COVID-19 大流行期间连续三次免疫球蛋白摄入失败导致疾病复发，出现神经系统表现。
本病例说明了 CVID 的复杂多器官表现。当这些患者出现肉芽肿性疾病时，应考虑到 CVID 背景下罕见的肺部疾病、多系统受累的 GLILD 疾病。联合使用类固醇和免疫疗法的早期治疗似乎对控制 CVID 的神经系统表现有效。
