Etanercept-induced myelopathy in a pediatric case of blau syndrome.
Etanercept-induced myelopathy in a pediatric case of blau syndrome.
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DOI：
10.1155/2011/134106
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发表时间：
2011
影响因子：
--
通讯作者：
Modesto C
中科院分区：
文献类型：
--
作者：
Caracseghi F;Izquierdo-Blasco J;Sanchez-Montanez A;Melendo-Perez S;Roig-Quilis M;Modesto C
Blau综合征是一种罕见的自身炎症性疾病的儿童肉芽肿性疾病。核苷酸结合寡聚化结构域2（NOD 2/CARD 15）中的突变负责这种病症，其具有常染色体显性遗传模式和可变表达性。临床表现包括关节炎、葡萄膜炎、皮疹和肉芽肿性炎症。中枢神经系统受累的报道很少，虽然有一些孤立的病例癫痫发作，神经感觉性听力损失，暂时性颅神经麻痹已被描述。治疗包括非甾体抗炎药、皮质类固醇和免疫抑制剂，其中抗肿瘤坏死因子-α（TNF-α）生物制剂如依那西普发挥重要作用。在TNF-α抑制剂的主要不良反应中，脱髓鞘疾病、多发性硬化症和急性横肌麻痹已在成人中报告。我们描述了一例儿童Blau综合征受依那西普诱导的脊髓病的影响，表现为横肌萎缩的临床综合征。依那西普停药后，患者迅速恢复。据我们所知，这是文献中报告的第一例此类病例，也可能是治疗8年后最晚发病的病例。我们讨论了这种反应的发病机制和可能的解释的影像学检查结果。
Blau syndrome is a rare autoinflammatory disorder within the group of pediatric granulomatous diseases. Mutations in nucleotide-binding oligomerization domain 2 (NOD2/CARD15) are responsible for this condition, which has an autosomal dominant pattern of inheritance and variable expressivity. The clinical picture includes arthritis, uveitis, skin rash, and granulomatous inflammation. Central nervous system involvement is seldom reported, although some isolated cases of seizures, neurosensorial hearing loss, and transient cranial nerve palsy have been described. Treatment consists of nonsteroidal anti-inflammatory drugs, corticosteroids, and immunosuppressive agents, among which anti-tumor-necrosis-factor-alpha (TNF-α) biologic agents, such as etanercept, play an important role. Among the major adverse effects of TNF-α inhibitors, demyelinating disease, multiple sclerosis, and acute transverse myelitis have been reported in adults. We describe a case of pediatric Blau syndrome affected by etanercept-induced myelopathy, manifesting as a clinical syndrome of transverse myelitis. The patient experienced rapid recovery after etanercept was discontinued. To our knowledge, this is the first such case reported in the literature and, possibly, the one with the latest onset, following 8 years of treatment. We discuss the etiopathogenic mechanisms of this reaction and possible explanations for the imaging findings.