Ayoade Folusakin, Hernandez Salma, Montreuil Nadine, Drews-Elger Katherine, Quiroz Tanya, Sternberg Candice A
University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States.
Department of Pathology and Laboratory Medicine, Jackson Health System, Miami, FL, United States.
Front Neurol. 2023 Jul 31;14:1218680. doi: 10.3389/fneur.2023.1218680. eCollection 2023.
Neuro-Behçet's syndrome, a severe and rare manifestation of Behçet's disease (BD), can be misdiagnosed due to its challenging clinical presentation. This article presents the case of a 20-year-old cis-gender male with intermittent fever, bilateral uveitis, and neurological symptoms who was found to have multiple brain stem mass lesions on brain imaging. A careful medical history elicited recurrent painful oral and genital ulcerations which were important in making the correct diagnosis. As there are no validated criteria or definite set of tests available to confirm neuro-Behçet's disease, the diagnosis is often established by exclusion after ruling out other potential etiologies. In our case, after an extensive negative workup for infectious, neuro-degenerative and malignant etiologies combined with the patient's medical history, a diagnosis of Behçet's disease with neurological involvement (neuro-Behçet's syndrome) was made. High doses of steroids were given, and the patient had a favorable outcome. Repeated magnetic resonance imaging of the brain 2 years later showed no new brain lesions. Neuro-Behçet's disease should be included as a differential diagnosis of unexplained brain stem lesions in the right clinical context. In these situations, providers should obtain medical histories related to genital and oral ulcers and eye problems as these may help to narrow down the diagnosis. The clinical presentation and challenges of this uncommon presentation of BD including a brief literature review of neuro-Behçet's disease with brain stem mass lesions are discussed in this case study.
神经白塞病是白塞病（BD）的一种严重且罕见的表现形式，因其具有挑战性的临床表现可能会被误诊。本文介绍了一名20岁的顺性别男性病例，该患者有间歇性发热、双侧葡萄膜炎和神经症状，脑部影像学检查发现有多个脑干肿块病变。详细的病史询问发现患者反复出现疼痛性口腔溃疡和生殖器溃疡，这对做出正确诊断很重要。由于目前尚无经过验证的标准或确定的检查方法来确诊神经白塞病，因此诊断通常在排除其他潜在病因后通过排除法确立。在我们的病例中，经过对感染性、神经退行性和恶性病因的广泛阴性检查，并结合患者的病史，最终诊断为白塞病合并神经受累（神经白塞病综合征）。给予大剂量类固醇治疗后，患者预后良好。两年后重复进行脑部磁共振成像检查未发现新的脑部病变。在正确的临床背景下，神经白塞病应作为不明原因脑干病变的鉴别诊断之一。在这些情况下，医生应询问与生殖器和口腔溃疡以及眼部问题相关的病史，因为这些可能有助于缩小诊断范围。本病例研究讨论了这种不常见的白塞病表现的临床表现和挑战，包括对伴有脑干肿块病变的神经白塞病的简要文献综述。
