P-205 Crohnʼs Disease Found Incidentally on PET Scan in a 14 Year Old Girl with Newly-Diagnosed Autoimmune Autonomic Ganglionopathy

Abstract

Background: Patients who present with extraintestinal manifestations of inflammatory bowel disease (IBD) are often difficult to diagnose, especially since such symptoms often precede gastrointestinal symptoms. Neurologic conditions related to IBD have been found to occur in only 3% of patients, and range fromWernecke encephalopathy to autoimmune inflammatory demyelinating polyneuropathy. Autoimmune autonomic ganglionopathy (AAG) is characterized by diffuse sympathetic and parasympathetic autonomic failure with gastrointestinal dysmotility, urinary retention, and orthostatic hypotension. AAG associated with Crohn's disease has not yet been reported in the literature. Here, we present a case of Crohn's disease found incidentally in the setting of newly-diagnosed AAG. Methods: N/A Results: A previously healthy 14 year old girl presented with a 5 week history of progressive fatigue and decreased appetite, 2 week history of decreased stool output with scant watery non-bloody diarrhea with associated lower abdominal pain, 1 week history of visual disturbance, and dizziness upon standing, and a 2 day history of oliguria and unsteady gait. On initial physical evaluation, she was found to have orthostatic hypotension, mydriasis, a non-tender and non-distended abdomen with hepatosplenomegaly, dysarthria, and gait ataxia. An abdominal CT scan showed moderate gaseous distension throughout the colon without evidence of obstruction or appreciable inflammation. A brain MRI showed leptomeningeal enhancement along the cerebellum with no other abnormalities. Initial infectious, neurologic, and rheumatologic work up did not yield a specific diagnosis. She had ongoing issues with fecal retention with worsening abdominal distension, significant urinary retention requiring regular catheterization, and orthostatic hypotension. A serum paraneoplastic panel was then sent, which returned positive for ganglionic acetylcholine receptor antibodies. She was then diagnosed with AAG and was managed with IVIG, plasmapheresis, and pyridostigmine. She then had worsening vomiting, feeding intolerance, colicky abdominal pain, and non-bloody diarrhea. A gastric emptying study showed markedly delayed gastric emptying. Given that AAG is considered a paraneoplastic syndrome, she had a screening PET scan for neoplastic evaluation. The PET scan showed circumferential thickening and enhancement of the terminal ileum. An esophagogastroduodenoscopy was without significant findings. A colonoscopy revealed aphthous ulcerations throughout the terminal ileum, ascending colon, and cecum with tissue friability and exudates. Biopsies confirmed the diagnosis of Crohn's disease. Her initial CT images were again reviewed, and no evidence of inflammation was found. She was started on intravenous methylprednisolone, which led to significant improvement in her abdominal pain, diarrhea, and appetite. She also had gradual improvement of her orthostatic hypotension, urinary retention, ataxia, and dysarthria. As an outpatient, she had full resolution of her gastrointestinal symptoms and was started on 6-mercaptopurine maintenance therapy. At present, she is doing well with only mild dysmetria and minimal residual gait ataxia. Conclusions: Here we reported a case of Crohn's disease that was found incidentally in the setting of a fulminant presentation of AAG. This possible association has not yet been reported in the literature.