Department of Rheumatology, The First Hospital Affiliated to Kunming Medical University, Kunming, China.
Department of Emergency, The First Hospital Affiliated to Kunming Medical University, Kunming, China.
Medicine (Baltimore). 2024 Jul 12;103(28):e38983. doi: 10.1097/MD.0000000000038983.
Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy is a rare autoimmune disease of the central nervous system that affects the meninges, brain, spinal cord, and optic nerves. GFAP astrocytopathy can coexist with a variety of antibodies, which is known as overlap syndrome. Anti-NMDAR-positive encephalitis overlap syndrome has been reported; however, encephalitis overlap syndrome with both anti-NMDAR and sulfatide-IgG positivity has not been reported.
The patient was a 50-year-old male who was drowsy and had chills and weak limbs for 6 months. His symptoms worsened after admission to our hospital with persistent high fever, dysphoria, gibberish, and disturbance of consciousness. Positive cerebrospinal fluid NMDA, GFAP antibodies, and serum sulfatide antibody IgG were positive.
Autoimmune GFAP astrocytopathy with anti-NMDAR and sulfatide-IgG-positive encephalitis overlap syndrome.
In addition to ventilator support and symptomatic supportive treatment, step-down therapy with methylprednisolone (1000 mg/d, halved every 3 days) and pulse therapy with human immunoglobulin (0.4 g/(kg d) for 5 days) were used.
After 6 days of treatment, the patient condition did not improve, and the family signed up to give up the treatment and left the hospital.
Patients with autoimmune GFAP astrocytopathy may be positive for anti-NMDAR and sulfatide-IgG, and immunotherapy may be effective in patients with severe conditions.
Autoimmune GFAP astrocytopathy with nonspecific symptoms is rarely reported and is easy to be missed and misdiagnosed. GFAP astrocytopathy should be considered in patients with fever, headache, disturbance of consciousness, convulsions, and central infections that do not respond to antibacterial and viral agents. Autoimmune encephalopathy-related antibody testing should be performed as soon as possible, early diagnosis should be confirmed, and immunomodulatory therapy should be administered promptly.
自身免疫性神经胶质纤维酸性蛋白（GFAP）星形细胞瘤病是一种罕见的中枢神经系统自身免疫性疾病，影响脑膜、脑、脊髓和视神经。GFAP 星形细胞瘤病可与多种抗体共存，这种情况被称为重叠综合征。已报道抗 N-甲基-D-天冬氨酸受体（NMDAR）阳性脑炎重叠综合征；然而，同时存在抗 NMDAR 和硫脂 IgG 阳性的脑炎重叠综合征尚未报道。
患者为 50 岁男性，出现嗜睡、寒战和四肢无力 6 个月。入院后持续高热、情绪低落、胡言乱语和意识障碍，症状加重。阳性脑脊液 NMDA、GFAP 抗体和血清硫脂抗体 IgG。
抗 NMDAR 和硫脂 IgG 阳性的自身免疫性 GFAP 星形细胞瘤病合并脑炎重叠综合征。
除呼吸机支持和对症支持治疗外，还采用甲泼尼龙（1000mg/d，每 3 天减半）降阶梯治疗和人免疫球蛋白（0.4g/（kg·d），连用 5 天）脉冲治疗。
治疗 6 天后，患者病情无改善，家属签字放弃治疗出院。
自身免疫性 GFAP 星形细胞瘤病患者可能抗 NMDAR 和硫脂 IgG 阳性，免疫治疗对重症患者可能有效。
自身免疫性 GFAP 星形细胞瘤病症状不特异，易被忽视和误诊。对于发热、头痛、意识障碍、抽搐和中枢感染且对抗菌和抗病毒药物无反应的患者，应考虑 GFAP 星形细胞瘤病。应尽快进行自身免疫性脑炎相关抗体检测，尽快明确诊断，并给予免疫调节治疗。
