Clark Melinda B, Davis Trevor
1Albany Medical Center, Albany, NY, USA.
J Child Neurol. 2013 Dec;28(12):1716-9. doi: 10.1177/0883073812474099. Epub 2013 Jan 28.
We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly described in children. Autonomic nervous system dysfunction usually has a self-limiting course with gradual near-complete or complete recovery. Most patients with pure pandysautonomia produce an antibody targeted against the ganglionic nicotinic acetylcholine receptor and titers have been shown to correlate with symptom severity. The clinical presentation described in this report is consistent with a progressive form of acute autoimmune autonomic neuropathy, but she was initially seronegative for known autoantibodies. She responded promptly to plasmapheresis. This case report emphasizes the importance of recognizing features of autonomic nervous system dysfunction and discusses the medical evaluation and treatment options for pediatric patients based on symptom severity.
我们描述了一名13岁女性，她突然出现尿潴留，并迅速发展为全自主神经功能不全，伴有体位性直立性心动过速综合征、胃轻瘫、无汗、瞳孔功能障碍和腹痛等症状。全自主神经功能不全在成人中经常有报道，但在儿童中较少见。自主神经系统功能障碍通常有一个自限性病程，会逐渐接近完全或完全恢复。大多数单纯性全自主神经功能不全患者会产生一种针对神经节烟碱型乙酰胆碱受体的抗体，且已证明抗体滴度与症状严重程度相关。本报告中描述的临床表现与急性自身免疫性自主神经病变的进行性形式一致，但她最初已知自身抗体检测为阴性。她对血浆置换反应迅速。本病例报告强调了识别自主神经系统功能障碍特征的重要性，并根据症状严重程度讨论了儿科患者的医学评估和治疗选择。
