Maggio Maria Cristina, Mastrangelo Greta, Skabar Aldo, Ventura Alessandro, Carrozzi Marco, Santangelo Giuseppe, Vanadia Francesca, Corsello Giovanni, Cimaz Rolando
Department Pro.Sa:M.I. "G. D'Alessandro" ARNAS, University of Palermo, Palermo, Italy.
Department of Rheumatology, Meyer Children's Hospital, Florence, Italy.
J Med Case Rep. 2017 Aug 16;11(1):225. doi: 10.1186/s13256-017-1388-y.
Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and a difficult diagnosis. The disease is often secondary to a neoplastic lesion, seldom diagnosed years later. Psychiatric symptoms are prevalent in adults; neurologic symptoms are more evident in children, who typically present primarily with neurological symptoms. To the best of our knowledge, the association with juvenile idiopathic arthritis has not been described.
We report the cases of two caucasian girls with an atypical presentation. The first patient was an 8-year-old girl with normal psychomotor development. Over a 4-month period she developed behavioral problems, speech impairment, and deterioration in academic skills. Within 8 months from the onset of symptoms, choreic movements gradually appeared. Hematological, neuroradiological, and neurophysiological examinations were negative; however, her symptoms worsened and treatment with prednisone was started. Although her choreic movements improved within 1 month, her neuropsychological and behavioral symptoms continued. Anti-N-methyl-D-aspartate receptor antibodies in cerebrospinal fluid and in blood were detected. Therapy with intravenously administered immunoglobulins was administered, without improvement of symptoms. After 2 months of steroid treatment, she suddenly started to pronounce some words with a progressive improvement in language and behavior. The second patient was a 14-year-old girl with classic anti-N-methyl-D-aspartate receptor encephalitis, treated successfully with intravenously administered immunoglobulins and methylprednisolone, followed by orally administered prednisone, who developed chronic arthritis of the hip. The arthritis was confirmed by magnetic resonance imaging and associated to antinuclear antigen antibody positivity. One year after the encephalitis presentation, an ovarian cystic mass was identified as a teratoma. The surgical resection of the mass was followed by the resolution of the psychotic spectrum and arthritis.
Anti-N-methyl-D-aspartate receptor encephalitis in pediatric patients can present initially with neuropsychological and behavioral symptoms. In the literature, the association of anti-N-methyl-D-aspartate receptor encephalitis with juvenile idiopathic arthritis is not yet described: to the best of our knowledge, this is the first case reported. The link to a neoplastic lesion can explain the favorable course of encephalitis and arthritis, after the surgical resection of the mass. Early diagnosis and treatment can improve the patient's outcome.
抗N-甲基-D-天冬氨酸受体脑炎是一种罕见的自身免疫性疾病，其特征为严重的神经和精神症状且诊断困难。该疾病常继发于肿瘤性病变，很少在数年后才被诊断出来。精神症状在成人中较为普遍；神经症状在儿童中更为明显，儿童通常主要表现为神经症状。据我们所知，尚未有与青少年特发性关节炎相关的描述。
我们报告了两名表现不典型的白种女孩的病例。第一名患者是一名8岁女孩，精神运动发育正常。在4个月的时间里，她出现了行为问题、言语障碍和学习技能下降。症状出现后8个月内，逐渐出现了舞蹈样动作。血液学、神经放射学和神经生理学检查均为阴性；然而，她的症状仍在恶化，于是开始使用泼尼松进行治疗。尽管她的舞蹈样动作在1个月内有所改善，但她的神经心理和行为症状仍持续存在。脑脊液和血液中检测到了抗N-甲基-D-天冬氨酸受体抗体。给予静脉注射免疫球蛋白治疗，但症状并未改善。经过2个月的类固醇治疗后，她突然开始说出一些单词，语言和行为逐渐改善。第二名患者是一名14岁女孩，患有典型的抗N-甲基-D-天冬氨酸受体脑炎，通过静脉注射免疫球蛋白和甲泼尼龙成功治疗，随后口服泼尼松，之后出现了髋关节慢性关节炎。磁共振成像证实了关节炎，并与抗核抗原抗体阳性相关。脑炎出现1年后，发现一个卵巢囊性肿块为畸胎瘤。肿块手术切除后，精神病性症状谱和关节炎均得到缓解。
儿童抗N-甲基-D-天冬氨酸受体脑炎最初可能表现为神经心理和行为症状。在文献中，尚未有抗N-甲基-D-天冬氨酸受体脑炎与青少年特发性关节炎相关的描述：据我们所知，这是首例报告病例。与肿瘤性病变的关联可以解释在肿块手术切除后脑炎和关节炎的良好病程。早期诊断和治疗可以改善患者的预后。
