Treatment-responsive pandysautonomia in an adolescent with ganglionic 伪3-AChR antibodies

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• 作者：Russell C. Dale^a ; ^{russelld@chw.edu.au} ; Bethan Lang^b ; Fabienne Brilot^a ; Yann Polfrit^c ; Grahame H.H. Smith^d ; Melanie Wong^e
• 关键词：Autoantibody ; Pseudo-obstruction ; Pupillary dilatation ; Ganglionopathy ; SLE
• 刊名：European Journal of Paediatric Neurology
• 出版年：2012
• 期刊代码：120_10903798
• 类别：med
• 出版时间：July, 2012
• 卷：16
• 期：4
• 页码：396-398
• 文件大小：120 K

摘要

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 (伪3-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 伪3-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 伪3-AChR Ab can occur in children and has multi-organ involvement.