PANDYSAUTONOMIA:CLINICOPATHOLOGICAL REPORT OF 5 CASES

Five cases of pandysautonomia were reported. Pupils, salivary and sweat glands, gastrointestinal tract, urinary bladder and heart were impaired in all cases, indicating that the peripheral parts of both sympathetic and parasympathetic nervous systems were involved, especially the cholinergic post ganglionic efferent fibers. Besides, two cases showed sensory impairment of the distal parts of the extremities, slight atrophy of small hand muscles and weak or absence of deep tendon reflexes. Three cases showed elevation of CSF protein without cellular reaction. Sural nerve biopsy was performed in 3 cases. Neuropathological changes included the reduction of myelinat-ed neurofibers, atrophy of Schwann's cells and the presence of degeneration products and myelin like structures. One case also revealed small vasculitis among neurofascicles. It seems that the disease entity is a result of autoimmune dysfunction. The prognosis of pandysautonomia in the present group was good, four cases have some improvement during 1-4 years of follow-up study.

急性全自主神经功能不全13例临床分析

目的总结急性全自主神经功能不全(APD)患儿临床资料,探讨其治疗方案及预后。方法回顾性分析2010年1月至2019年12月首都医科大学附属北京儿童医院神经科收治的13例APD患儿资料。采集患儿一般资料、临床症状、自主神经查体及功能测试、实验室检查、治疗方案及预后随访进行分析。结果 13例患儿中,男4例,女9例;平均年龄8岁5个月(3岁8个月~12岁5个月);平均确诊时病程94.5 d(14~410 d)。常见首发症状为胃肠道动力障碍(11例)、排尿困难(3例)、直立晕厥/眩晕(3例)。病程中患儿均存在胃肠道动力障碍及皮肤泌汗障碍,腺体受累及体位性低血压各12例,瞳孔异常9例,尿潴留7例。其他症状包括乏力9例,情绪障碍4例,肌力下降、感觉障碍各2例。患儿均接受静脉用免疫球蛋白(IVIG)治疗,3例联合糖皮质激素。胃肠道症状严重无法进食者6例,均接受静脉营养治疗;4例接受空肠喂养,其中3例1~12个月恢复正常饮食,1例随访5年2个月仍未恢复。低钠血症7例,对症治疗2~30 d恢复。9例患儿随访1个月~9年,7例正常学习及工作,营养状态满意,情绪稳定,无病情反复及复发。结论 APD临床表现多样,首发症状多为胃肠道动力障碍、体位性低血压、尿潴留,常见低钠血症。针对症状进行个体化多学科综合管理,尤其是胃肠道动力障碍相关综合治疗、体位性低血压及泌尿系统管理及低钠血症的判断、个体化治疗可有效改善预后。