C Novo Azael, Venegas Pérez Begoña
Department of Neurology, Hospital Universitario de Cabueñes, Gijón, Spain.
BMJ Neurol Open. 2021 Oct 27;3(2):e000142. doi: 10.1136/bmjno-2021-000142. eCollection 2021.
To describe an atypical case of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
A patient in his 60s presented with 6 months of progressive ataxia, proximal myoclonus and bulbar symptomatology. Cerebrospinal fluid (CSF) analysis showed monocytic pleocytosis, elevated protein level and elevated adenosine deaminase (ADA) level. CSF microbiological studies were negative and brain and cervical MRI showed no significant findings. We tested for nuclear, cytoplasmatic and synaptic neural autoantibodies as well as anti-GFAP antibodies. While awaiting these results, the patient was commenced on methylprednisolone boluses (1 g/day for 5 days), noting rapid neurological improvement. Eventually, CSF tests were positive for anti-GFAP antibodies.
We report atypical manifestations of GFAP astrocytopathy. Further research is needed to fully understand the spectrum of neurological manifestations of this autoimmune disease and facilitate timely diagnosis.
描述一例自身免疫性胶质纤维酸性蛋白（GFAP）星形细胞病的非典型病例。
一名60多岁的患者出现进行性共济失调、近端肌阵挛和延髓症状6个月。脑脊液（CSF）分析显示单核细胞增多、蛋白水平升高和腺苷脱氨酶（ADA）水平升高。CSF微生物学检查为阴性，脑部和颈椎MRI未发现明显异常。我们检测了核、胞质和突触神经自身抗体以及抗GFAP抗体。在等待这些结果期间，患者开始接受甲泼尼龙冲击治疗（1g/天，共5天），并注意到神经功能迅速改善。最终，CSF检测抗GFAP抗体呈阳性。
我们报告了GFAP星形细胞病的非典型表现。需要进一步研究以充分了解这种自身免疫性疾病的神经表现谱，并促进及时诊断。
