Department of Pediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri.
Department of Pediatric Rheumatology, Acıbadem Hospital, Kayseri, Turkey.
Turk J Pediatr. 2021;63(2):323-328. doi: 10.24953/turkjped.2021.02.018.
Granulomatous autoinflammatory diseases are monogenic syndromes caused by mutations in the region encoding the nucleotide-binding domain of the nucleotide-binding oligomerization domain-containing 2 gene. Blau syndrome and early-onset sarcoidosis are familial and sporadic forms of the same disease and are very rare. Many organ systems may be involved; however, neurologic involvement is infrequent. We reported a case of encephalitis in a 12-year-old girl followed with a diagnosis of early-onset sarcoidosis.
The patient was diagnosed with juvenile idiopathic arthritis at 3 years of age. We considered druginduced sarcoidosis at 6 years of age with granulomatous inflammation of liver and kidney. Small joint involvement and camptodactyly developed during follow-up. M315T mutation was detected in the NOD2 gene supporting the diagnosis of early-onset sarcoidosis. The patient suffered from encephalopathy when she was under methotrexate, infliximab, and systemic steroid treatment at 12 years of age. Cerebrospinal fluid limbic encephalitis antibody panel was negative.
Encephalopathy is not common in Blau syndrome and early-onset sarcoidosis. The cause of encephalopathy in our patient was interpreted as autoimmune encephalitis.
肉芽肿性炎症性疾病是由核苷酸结合寡聚结构域包含 2 基因编码区突变引起的单基因综合征。Blau 综合征和早发性结节病是同种疾病的家族性和散发性形式，非常罕见。许多器官系统可能会受到影响，但神经系统受累并不常见。我们报告了一例 12 岁女孩脑炎病例，随后诊断为早发性结节病。
患者在 3 岁时被诊断为幼年特发性关节炎。6 岁时我们考虑药物诱导的结节病，肝、肾有肉芽肿性炎症。随访中出现小关节受累和掌挛缩。NOD2 基因的 M315T 突变支持早发性结节病的诊断。该患者在接受甲氨蝶呤、英夫利昔单抗和全身类固醇治疗时，12 岁时出现脑病。脑脊髓液边缘性脑炎抗体谱阴性。
脑病在 Blau 综合征和早发性结节病中并不常见。我们患者脑病的病因解释为自身免疫性脑炎。
