Pozzato Mattia, Dilena Robertino, Rogani Greta, Beretta Gisella, Torreggiani Sofia, Lanni Stefano, Tozzo Alessandra, Andreetta Francesca, Cavalcante Paola, Triulzi Fabio, Martinelli Boneschi Filippo, Minoia Francesca, Filocamo Giovanni
Neurology Unit & MS Centre, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Front Pediatr. 2023 Jun 23;11:1175584. doi: 10.3389/fped.2023.1175584. eCollection 2023.
Behcet's disease (BD) is a rare vasculitis characterized by multisystemic inflammation. Central nervous system (CNS) involvement is rare and heterogeneous, particularly in the pediatric population. A diagnosis of neuro-Behcet could be highly challenging, especially if neurological manifestations precede other systemic features; however, its timely definition is crucial to prevent long-term sequelae. In this study, we describe the case of a girl who, at 13 months of age, presented with a first episode of encephalopathy compatible with acute disseminated encephalomyelitis, followed, after 6 months, by a neurological relapse characterized by ophthalmoparesis and gait ataxia, in association with new inflammatory lesions in the brain and spinal cord, suggesting a neuromyelitis optica spectrum disorder. The neurological manifestations were successfully treated with high-dose steroids and intravenous immunoglobulins. In the following months, the patient developed a multisystemic involvement suggestive of Behcet's disease, characterized by polyarthritis and uveitis, associated with HLA-B51 positivity. The challenge presented by this unique case required a multidisciplinary approach involving pediatric neurologists, neuro-radiologists, and pediatric rheumatologists, with all of these specialists creating awareness about early-onset acquired demyelinating syndromes (ADSs). Given the rarity of this presentation, we performed a review of the literature focusing on neurological manifestations in BD and differential diagnosis of patients with early-onset ADS.
白塞病（BD）是一种罕见的血管炎，其特征为多系统炎症。中枢神经系统（CNS）受累罕见且具有异质性，在儿童群体中尤为如此。神经白塞病的诊断可能极具挑战性，特别是当神经症状先于其他全身症状出现时；然而，及时明确诊断对于预防长期后遗症至关重要。在本研究中，我们描述了一名13个月大女孩的病例，她首次出现与急性播散性脑脊髓炎相符的脑病发作，6个月后出现以眼球运动麻痹和步态共济失调为特征的神经复发，并伴有脑和脊髓新的炎症性病变，提示视神经脊髓炎谱系障碍。神经症状通过大剂量类固醇和静脉注射免疫球蛋白成功得到治疗。在接下来的几个月里，患者出现了提示白塞病的多系统受累，表现为多关节炎和葡萄膜炎，并伴有HLA - B51阳性。这个独特病例带来的挑战需要儿科神经科医生、神经放射科医生和儿科风湿病学家采取多学科方法，所有这些专家都提高了对早发性获得性脱髓鞘综合征（ADSs）的认识。鉴于这种表现的罕见性，我们对文献进行了综述，重点关注白塞病的神经症状以及早发性ADS患者的鉴别诊断。
