Neuroimmunology Group, Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Australia.
Eur J Paediatr Neurol. 2012 Jul;16(4):396-8. doi: 10.1016/j.ejpn.2011.11.001. Epub 2011 Nov 29.
Autoimmune autonomic ganglionopathy (AAG) is a rare disorder that presents with pandysautonomia typically in middle age and elderly patients. AAG is typically associated with serum autoantibodies that bind to the alpha-3 subunit of the ganglionic acetylcholine receptor (α3-AChR Ab). We report a 13 year old girl who presented with gut pseudo-obstruction, bladder dysfunction and dilated pupils unresponsive to pilocarpine. She had positive α3-AChR Ab plus other autoantibodies suggesting an autoimmune diathesis. Our patient was initially resistant to steroid therapy but responded to the addition of azathioprine resulting in a near complete clinical remission. We conclude that pandysautonomia associated with α3-AChR Ab can occur in children and has multi-organ involvement.
自身免疫性自主神经节病（AAG）是一种罕见的疾病，通常在中年和老年患者中表现为全自主神经功能紊乱。AAG 通常与血清自身抗体相关，这些自身抗体与神经节乙酰胆碱受体的α3 亚单位（α3-AChR Ab）结合。我们报告了一例 13 岁女孩，其表现为假性肠梗阻、膀胱功能障碍和瞳孔扩大，对毛果芸香碱无反应。她的α3-AChR Ab 呈阳性，还有其他自身抗体，提示存在自身免疫倾向。我们的患者最初对类固醇治疗有耐药性，但加用巯嘌呤后反应良好，几乎完全缓解。我们得出结论，与 α3-AChR Ab 相关的全自主神经功能紊乱可发生在儿童中，并涉及多个器官。
