Gastrointestinal neurofibromatosis: an unusual cause of gastric outlet obstruction.
Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition occurring in approximately 1/3000 births. NF-1 is known to be associated with gastrointestinal neoplasms in 2-25 per cent of patients. We report the first case of gastric outlet obstruction with perforation caused by neurofibroma in a patient with NF-1. The literature is reviewed, examining 61 previously reported cases of noncarcinoid gastrointestinal (GI) neoplasms in patients with NF-1 for symptoms, location, and types of neoplasms. Neoplasms were located most often in the small intestine (72%). Neurofibromas, found in 52 per cent of patients, were the most frequently diagnosed benign neoplasms followed by leiomyomas (13%), ganglioneurofibromas (9.8%), and gastrointestinal stomal tumor (GIST) (6.5%). Adenocarcinoma was present in 23 per cent of patients. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.
Bakker
Jennifer R
JR
Department of Surgery, Graduate Hospital, Philadelphia, Pennsylvania 19146, USA.
Haber
Marian M
MM
Garcia
Fernando U
FU
D000328:Adult; D004379:Duodenal Neoplasms / Q000150:complications / Q000473:pathology; D017219:Gastric Outlet Obstruction / Q000209:etiology* / Q000473:pathology; D006097:Granulation Tissue / Q000473:pathology; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D010439:Peptic Ulcer Perforation / Q000209:etiology / Q000473:pathology; D013274:Stomach Neoplasms / Q000150:complications* / Q000473:pathology