Intestinal ganglioneurofibromatosis – Be flexible & arm your radiologist
B Layard, R Skelly, P Lynch
Antrim Area Hospital
This case highlights the challenges in the diagnosis of a rare condition when it mimics a more common one.
A 28 year old male had multiple hospital admissions over a 2 year period with intermittent abdominal pain, weight loss and vomiting. His bowel frequency was normal. On each admission, blood work was unremarkable. Initial investigations including CT abdomen, small bowel series and MRI enteroclysis demonstrated thick-walled oedematous small bowel segments with other areas appearing strictured. Gastroscopy and colonoscopy with biopsies were unremarkable. Faecal calprotectin was elevated. It was considered the findings were consistent with a diagnosis of small bowel Crohn's disease especially as oral corticosteroid appeared to ease his abdominal pain with symptoms recurring on dose reduction. On this basis, he was considered for azathioprine therapy.
Prior to commencement of azathioprine the patient was re-admitted with increasing abdominal pain under a different clinical team who noted he had cutaneous features of neurofibromatosis (NF) type-1 supported by a documented family history of NF type-1. It was therefore postulated that the patient actually had intestinal NF and not Crohn’s. He underwent a further CT of abdomen that demonstrated similar features to previous however with the knowledge of NF type-1, the CT imaging was now more in keeping with intestinal NF than Crohn’s disease. With this it was agreed to proceed with elective laparotomy and small bowel resection. Surgery revealed a dilated 80cm segment of distal small bowel which was resected. He had an uneventful post-operative recovery. Pathology confirmed features of diffuse intestinal ganglioneuromatosis in keeping with the clinical diagnosis of NF type-1. He has remained well at subsequent follow up with no further symptoms.
Ganglioneuromatosis occurring in the gastrointestinal tract is rare. It has been described in both multiple endocrine neoplasia (MEN) type-2B and, less commonly, NF type-1. There are only 2 reported cases of small bowel ganglioneurofibromatosis in NF type- 1. Presenting features include acute intestinal obstruction, abdominal pain and intestinal motility disorders. It can be suspected radiologically, however due to its rarity and lack of recognition, may be undiagnosed.
This case demonstrates the importance of clinical examination and the revision of a diagnosis when necessary with provision of a thorough clinical history for the radiologist to assist in image interpretation. This would expedite the diagnosis and as a consequence lead to a better patient outcome.