Marsili Manuela, Marzetti Valentina, Lucantoni Marta, Lapergola Giuseppe, Gattorno Marco, Chiarelli Francesco, Breda Luciana
Department of Pediatrics, University of Chieti, Via dei Vestini 5, Chieti, 66100, Italy.
UO Pediatria II, G. Gaslini Scientific Institute, Genova, Italy.
Ital J Pediatr. 2016 Sep 6;42(1):81. doi: 10.1186/s13052-016-0291-2.
Autoimmune sensorineural hearing loss, also known as autoimmune inner ear disease (AIED) is a rare clinical entity characterized by progressive and bilateral sensorineural hearing loss often accompanied by vestibular symptoms. Diagnosis is essential as a consistent number of patients show a positive response to steroids alone or in association with other immunosuppressive drugs. AIED is defined as primary when the disease is limited to the ear, whereas in up to a third of cases it is associated to other systemic autoimmune diseases such as Behçet disease (BD). BD is a rare multisystem vasculitis characterized by recurrent oral and genital aphtosis, uveitis, skin lesions, neurological and vascular manifestations. Clinical presentation is variable thus making the diagnosis difficult in many instances. The choice of therapy is also limited by the scarceness of high-quality therapy studies.
We present a 15-year-old-boy with six months of history of fever, dizziness, tinnitus and ataxia. He had a final diagnosis of AIED associated to BD and was successfully treated with the anti-tumor necrosis factor (TNF)-α adalimumab.
This case report points out to the diagnostic and therapeutic challenges of BD especially when unusual symptoms are the prominent manifestations of the disease. It also suggests that adalimumab is a good therapeutic option in children with BD and audiovestibular symptoms.
自身免疫性感音神经性听力损失，也称为自身免疫性内耳疾病（AIED），是一种罕见的临床病症，其特征为进行性双侧感音神经性听力损失，常伴有前庭症状。诊断至关重要，因为相当数量的患者单独使用类固醇或与其他免疫抑制药物联合使用时显示出阳性反应。当疾病仅限于耳部时，AIED被定义为原发性，而在高达三分之一的病例中，它与其他全身性自身免疫性疾病如白塞病（BD）相关。BD是一种罕见的多系统血管炎，其特征为复发性口腔和生殖器溃疡、葡萄膜炎、皮肤病变、神经和血管表现。临床表现多变，因此在许多情况下难以诊断。治疗选择也受到高质量治疗研究稀缺的限制。
我们报告一名15岁男孩，有6个月的发热、头晕、耳鸣和共济失调病史。他最终被诊断为与BD相关的AIED，并通过抗肿瘤坏死因子（TNF）-α阿达木单抗成功治疗。
本病例报告指出了BD的诊断和治疗挑战，尤其是当不寻常症状是该疾病的突出表现时。它还表明阿达木单抗是患有BD和视听前庭症状儿童的一种良好治疗选择。
