Severe gastrointestinal dysmotility in autoimmune autonomic ganglionopathy: recognition, reclassification and...

A 30-year-old woman presented with sepsis. She had chronic severe gastrointestinal dysmotility and depended on parenteral nutrition. Further history identified orthostatic intolerance, hypohidrosis and recurrent opioid-induced respiratory depression. She was noted incidentally to have tonic pupils; applying topical apraclonidine and dilute pilocarpine eye drops demonstrated both sympathetic and parasympathetic pupil denervation. Serum testing identified antibodies against the ganglionic nicotinic acetylcholine receptor, consistent with autoimmune autonomic ganglionopathy. After treatment with plasma exchange and pulsed intravenous cyclophosphamide, all features of autonomic dysfunction had improved by 3 months. Parenteral nutrition was soon stopped completely, and at 12 months, she had sustained remission of all symptoms of autonomic dysfunction while taking maintenance immunosuppression with mycophenolic acid. Accurate diagnosis of autoimmune autonomic ganglionopathy can allow functional cure of chronic severe gastrointestinal dysmotility with appropriate immunosuppression. Neurologists and non-neurologists should be aware of this condition.