CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report
CNS vasculitis and stroke as a complication of DOCK8 deficiency: a case report
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DOI：
10.1186/s12883-016-0578-3
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发表时间：
2016-04-26
期刊：
影响因子：
2.6
通讯作者：
AlKhater, Suzan A.
中科院分区：
文献类型：
--
作者：
AlKhater, Suzan A.
背景：与自身免疫相关的原发性免疫缺陷疾病知之甚少。中枢神经系统（CNS）血管炎可使这些实体的病程复杂化，但未得到充分认识。高免疫球蛋白E综合征（hyperimmunoglobulin E syndrome）是一种罕见的原发性免疫缺陷病，以IgE抗体水平升高、湿疹和复发性葡萄球菌感染为特征，DOCK 8基因缺失被认为是其常染色体隐性遗传形式。DOCK8缺失与致死性CNS血管炎相关。然而，这种情况下，他们的结果是稀缺的描述在literature.Case介绍：本报告描述了一个年轻的女性DOCK8基因缺失急性斜视，疲劳和幻视。患者被诊断为第三眼神经炎和脑炎，认为与其基础免疫缺陷相关，然而，随后基于脑磁成像和磁共振血管造影结果诊断为CNS血管炎。我们在这里提供了一个全面的描述患者的临床结果，并概述了一个有效的治疗方法，可能是有用的类似患者，包括使用类固醇和霉酚酸酯（MMF）。治疗耐受性良好，使患者能够恢复大部分神经功能缺损。然而，尽管最初的改善，她后来开发stroke. Conclusions：据我们所知，这是第一次在文献中的原发性免疫缺陷并发中枢神经系统血管炎的情况下，表现出成功的结果报告。我们的观察结果表明，霉酚酸酯和类固醇的组合是一种有效的治疗与DOCK 8缺陷相关的CNS血管炎。然而，缺乏对与原发性免疫缺陷相关的神经系统共病的认识以及诊断延迟可能导致急性脑梗死的发生。早期治疗和积极控制疾病的初始炎症对于预防灾难性中风至关重要。
Background: Primary immunodeficiency disorders associated with autoimmunity are poorly understood. Central nervous system (CNS) vasculitis can complicate the courses of such entities, but it is underappreciated. Deletion of the dedicator of cytokinesis 8 (DOCK8) gene is considered to be the autosomal recessive form of hyperimmunoglobulin E syndrome which is a rare type of primary immunodeficiency disease characterized by elevated levels of IgE antibody, eczema, and recurrent staphylococcal infections. DOCK8 deletion is associated with fatal CNS vasculitis. However, descriptions of such cases and their outcomes are scarce in the literature.Case presentation: This report describes a young female with a DOCK8 gene deletion presenting acutely with squint, fatigue and visual hallucinations. The patient was diagnosed as having neuritis of the third oculomotor nerve and encephalitis, which were thought to be related to her underlying immune deficiency, however, she subsequently was diagnosed with CNS vasculitis based on brain magnetic imaging and magnetic resonance angiography findings. We provide here a comprehensive description of the patient's clinical outcome and outline an effective treatment approach that may be useful for similar patients and includes the use of steroids and mycophenolate mofetil (MMF). The treatment was well tolerated and enabled the patient to recover most of her neurological deficits. However, despite the initial improvement, she later developed stroke.Conclusions: To the best of our knowledge, this is the first report in the literature of a case of primary immunodeficiency complicated by CNS vasculitis demonstrating a successful outcome. Our observations indicate that the combination of MMF and steroids is an effective treatment for CNS vasculitis associated with DOCK8 deficiency. However, lack of awareness of the neurological comorbidities associated with primary immunodeficiencies and the delay in diagnosis likely contributed to the development of acute cerebral infarction. Early treatment and aggressive control of the disease's initial inflammation is essential for preventing catastrophic stroke.