Jorge R, Aguiar C, Espinheira C, Trindade E, Maia A M, Sousa R
Department of Pediatrics, São João Hospital Centre, Alameda Prof. Hernâni Monteiro, 4200 - 319, Porto, Portugal,
Eur J Pediatr. 2014 Dec;173(12):1699-702. doi: 10.1007/s00431-014-2331-5. Epub 2014 May 13.
Neurologic manifestations are present in a reasonable proportion of adult celiac patients and can be the first sign of gluten sensitivity. In children, the risk of neurological complications is lower, and gluten sensitivity with neurological presentation seems to be rare. We report a case of gluten sensitivity with severe neurological presentation in a 3-year-old girl. In the absence of gastrointestinal symptoms, the presence of white matter lesions in cerebral magnetic resonance imaging suggested an acute disseminated encephalomyelitis. Recurrence of neurologic symptoms and cerebral lesions over a long period of time made the authors consider an autoimmune/inflammatory systemic disease. IgA anti-transglutaminase (TG) 2 was elevated and duodenal biopsy confirmed the presence of enteropathy. A gluten-free diet led to complete resolution of neurological manifestations and arrest of white matter lesions progression.
In children with unclear neurologic manifestations with probable autoimmune etiology, anti-TG2 autoantibody titers should be determined considering the possibility of gluten sensitivity. Gluten-free diet remains the only effective treatment reported to date and, therefore, should be recommended to all patients with gluten sensitivity despite the type of manifestations. More studies, focusing on neurological manifestations and its response to gluten-free diet, are needed.
相当一部分成年乳糜泻患者存在神经系统表现,且可能是麸质敏感的首发症状。在儿童中,神经系统并发症的风险较低,伴有神经系统表现的麸质敏感似乎较为罕见。我们报告一例3岁女孩出现严重神经系统表现的麸质敏感病例。在无胃肠道症状的情况下,脑部磁共振成像显示白质病变提示急性播散性脑脊髓炎。长期出现神经系统症状和脑部病变复发使作者考虑为自身免疫性/炎症性全身性疾病。抗组织转谷氨酰胺酶(TG)2 IgA升高,十二指肠活检证实存在肠病。无麸质饮食使神经系统表现完全缓解,白质病变进展停止。
对于病因可能为自身免疫性且神经系统表现不明确的儿童,应考虑麸质敏感的可能性,测定抗TG2自身抗体滴度。无麸质饮食仍是迄今为止报道的唯一有效治疗方法,因此,无论表现类型如何,均应推荐给所有麸质敏感患者。需要更多针对神经系统表现及其对无麸质饮食反应的研究。