Deconinck Nicolas, Scaillon Michèle, Segers Valérie, Groswasser José J, Dan Bernard
Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles (ULB), Brussels, Belgium.
Pediatr Neurol. 2006 Apr;34(4):312-4. doi: 10.1016/j.pediatrneurol.2005.08.034.
Celiac disease may be associated with various neurologic manifestations, most commonly cerebellar ataxia. This report describes a 2-year-old male who presented with opsoclonus-myoclonus syndrome including action myoclonus, palpebral flutter, opsoclonus, and ataxia. Given the severity of ataxia, the child was unable to sit or walk independently. Brain magnetic resonance imaging was normal on two occasions (4-week interval). Oligoclonal bands were found in the cerebrospinal fluid. Blood and serum examinations were unremarkable, with no evidence of infectious seroconversion. However autoantibody testing indicated the presence of antigliadin antibodies of immunoglobulin A subtype, anti-endomysial antibodies, and anti-CV2 antibodies that were not, however, detected in the cerebrospinal fluid. Duodenal biopsy documented villous atrophy confirming the diagnosis of celiac disease. This case confirms that initial presentation of celiac disease may be restricted to neurologic features. We suggest that a search for evidence for celiac disease should be included in the evaluation of opsoclonus-myoclonus.
乳糜泻可能与多种神经表现相关，最常见的是小脑共济失调。本报告描述了一名2岁男性，他出现了眼阵挛-肌阵挛综合征，包括动作性肌阵挛、眼睑扑动、眼阵挛和共济失调。鉴于共济失调的严重程度，该患儿无法独立坐立或行走。脑部磁共振成像在两个时间点（间隔4周）均正常。脑脊液中发现了寡克隆带。血液和血清检查无异常，没有感染血清转化的证据。然而，自身抗体检测显示存在免疫球蛋白A亚型的抗麦胶蛋白抗体、抗肌内膜抗体和抗CV2抗体，但在脑脊液中未检测到。十二指肠活检记录显示绒毛萎缩，证实了乳糜泻的诊断。该病例证实乳糜泻的初始表现可能仅限于神经特征。我们建议在评估眼阵挛-肌阵挛时应寻找乳糜泻的证据。
