Pereira Danilo de Assis, Mariano Marina, Marcon Nathalia, Maia Marianna Menezes, Simabukuro Mateus Mistieri, Coan Ana Carolina, Zorron Mariana
Department of Human Reproduction and Childhood, Pontifical Catholic University of São Paulo, Sorocaba, São Paulo, Brazil.
Department of Pediatrics, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
J Neuroimmunol. 2025 Sep 15;406:578670. doi: 10.1016/j.jneuroim.2025.578670. Epub 2025 Jun 16.
Anti-glutamic acid decarboxylase (anti-GAD) antibodies are commonly associated with type 1 diabetes mellitus (T1DM) but can also indicate severe neurological involvement, including autoimmune encephalitis. We present the case of a previously healthy four-year-old girl who developed persistent focal epileptic seizures affecting the right hemiface, which progressed to epilepsia partialis continua and were accompanied by hyperglycemia and signs of premature thelarche. Additional findings included advanced bone age and a single episode of unexplained vaginal bleeding. Brain MRI and abdominal ultrasound were unremarkable, but EEG revealed left temporal spikes. Laboratory testing confirmed elevated anti-GAD antibodies (>2000 IU/mL), supporting a diagnosis of autoimmune encephalitis. The patient was treated with intravenous immunoglobulin (IVIG), resulting in partial seizure control and improved glycemic regulation. This case underscores the need to consider autoimmune mechanisms in pediatric patients with pharmacoresistant seizures and concurrent endocrine abnormalities. Early identification of anti-GAD antibodies facilitated timely immunotherapy, emphasizing the value of integrated diagnostic and therapeutic strategies in managing rare autoimmune disorders.
抗谷氨酸脱羧酶（抗GAD）抗体通常与1型糖尿病（T1DM）相关，但也可能提示严重的神经受累，包括自身免疫性脑炎。我们报告了一例先前健康的4岁女孩病例，她出现了持续的局灶性癫痫发作，影响右侧半面部，进而发展为持续性部分性癫痫，并伴有高血糖和性早熟迹象。其他发现包括骨龄超前和一次不明原因的阴道出血。脑部MRI和腹部超声检查无异常，但脑电图显示左侧颞叶有尖波。实验室检查证实抗GAD抗体升高（>2000 IU/mL），支持自身免疫性脑炎的诊断。患者接受了静脉注射免疫球蛋白（IVIG）治疗，癫痫发作得到部分控制，血糖调节得到改善。该病例强调了在患有药物抵抗性癫痫和并发内分泌异常的儿科患者中考虑自身免疫机制的必要性。早期识别抗GAD抗体有助于及时进行免疫治疗，强调了综合诊断和治疗策略在管理罕见自身免疫性疾病中的价值。
