Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.
BACKGROUND
Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.


METHODS
We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction.


CONCLUSIONS
A literature search of adenocarcinoma associated with ataxia-telangiectasia revealed 6 cases. All patients presented with non-specific gastrointestinal complaints suggestive of ulcer disease. Although there was no correlation between immunoglobulin levels and development of gastric adenocarcinoma, the presence of chronic gastritis and intestinal metaplasia seem to lead to the development of gastric adenocarcinoma. One should consider adenocarcinoma in any patient with ataxia-telangiectasia who presents with non-specific gastrointestinal complaints, since this can lead to earlier diagnosis.
Otabor
Iyore A
IA
Department of Pediatric Surgery, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, OH 43205, USA. iyore.otabor@nationwidechildrens.org
Abdessalam
Shahab F
SF
Erdman
Steven H
SH
Hammond
Sue
S
Besner
Gail E
GE
D000230:Adenocarcinoma / Q000150:complications*; D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications*; D005260:Female; D017219:Gastric Outlet Obstruction / Q000209:etiology*; D006801:Humans; D013274:Stomach Neoplasms / Q000150:complications*