title: Treatment-responsive pandysautonomia in an adolescent with ganglionic α3-AChR antibodies.
abstract: 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.
authors: Neuroimmunology Group, Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Australia. russelld@chw.edu.au
authors: Russell C
authors: RC
authors: Dale
authors: Bethan
authors: B
authors: Lang
authors: Fabienne
authors: F
authors: Brilot
authors: Yann
authors: Y
authors: Polfrit
authors: Grahame H H
authors: GH
authors: Smith
authors: Melanie
authors: M
authors: Wong
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000293:Adolescent; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000906:Antibodies / Q000032:analysis / Q000276:immunology*; D001327:Autoimmune Diseases / Q000188:drug therapy*; D001342:Autonomic Nervous System Diseases / Q000188:drug therapy*; D001379:Azathioprine / Q000627:therapeutic use; D019086:Bridged Bicyclo Compounds, Heterocyclic; D005260:Female; D005725:Ganglia, Autonomic / Q000276:immunology* / Q000503:physiopathology; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D007415:Intestinal Obstruction / Q000209:etiology; D018722:Nicotinic Agonists; D011239:Prednisolone / Q000627:therapeutic use; D011725:Pyridines; D019275:Radiopharmaceuticals; D011978:Receptors, Nicotinic / Q000276:immunology*
chemical_list: D000893:Anti-Inflammatory Agents; D000906:Antibodies; D001379:Azathioprine; D019086:Bridged Bicyclo Compounds, Heterocyclic; D007166:Immunosuppressive Agents; D018722:Nicotinic Agonists; D011239:Prednisolone; D011725:Pyridines; D019275:Radiopharmaceuticals; D011978:Receptors, Nicotinic; C082748:epibatidine