A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4 muscle strength of both upper limbs, grade 3 muscle strength of both lower limbs, and disappearance of tendon reflex. Laboratory tests revealed albuminocytological dissociation in cerebrospinal fluid, disappearance of H reflex, and positive serum anti-GD1b IgG. The boy was finally diagnosed with Guillain-Barré syndrome (GBS) overlapping with Miller-Fisher syndrome and Bickerstaff brainstem encephalitis. He recovered and was discharged after treatment including immunoglobulin, plasma exchange, and respiratory support. The GBS overlap syndromes in children have strong clinical heterogeneity due to the injury of both peripheral nerve and brainstem, among which anti-GD1b antibody-related GBS overlap syndromes have special clinical manifestations and complex neuroelectrophysiological changes and are thus difficult to diagnose. Nerve conduction velocity tests, especially H reflex test, should be performed for children with weakness in both lower limbs and blepharoptosis.
患儿1岁7个月，以双下肢无力、眼睑下垂起病，呈进行性加重并出现呼吸不规则。神经系统体格检查：嗜睡状，双眼睑下垂，双上肢肌力4级，双下肢肌力3级，腱反射消失。实验室检查提示脑脊液蛋白细胞分离，H反射消失，血清抗GD1b抗体IgG阳性。最终该患儿诊断为吉兰-巴雷综合征（Guillain-Barré syndrome，GBS）、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征，治疗上予免疫球蛋白、血浆置换、呼吸支持等治疗后患儿恢复出院。儿童GBS、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征可同时出现周围神经及脑干损害，临床异质性强，其中抗GD1b抗体相关的GBS、Miller-Fisher综合征与Bickerstaff脑干脑炎重叠综合征有特殊临床表现及复杂神经电生理变化，诊断较困难。因此对有双下肢乏力、眼睑下垂患儿尽早完善神经传导速度检查，重点关注H反射。.
Keywords: Anti-GD1b antibody; Bickerstaff brainstem encephalitis; Blepharoptosis; Guillain-Barré syndrome; Miller-Fisher syndrome; Young child.