Ataxia teleangiectasia (AT) is rare, autosomal recessive, neurodegenerative genetic disorder, characterized by cerebellar ataxia, oculocutaneous teleangiectasias, variable immunodeficiency, recurrent sino-pulmonary infections and progressive neurological impairment. Mutation in ATM gene cause loss of cell cycle control and defect DNA repair that predispose patients to increased radiosensitivity and cancer. It reduces life expectancy. The most common type of malignancies are Hodgkin and non-Hodgkin lymphoma, leukemia, but solid organ tumours can also occur. We present a unique case of 16-year-old girl with ataxia teleangiectasia and gastrointestinal obstruction due to gastric adenocarcinoma.
Review of the patient's records.
The patient was a 16-year old girl with AT (diagnosis was established at the age of 1 year). She had 4 weeks complaints of fever, abdominal pain, nonbilious vomiting and weight loss. Nonspecific laboratory inflammatory markers were elevated and positive sings of peritoneal irritation were present. There was suspicion to acute appendicitis. Acute laparotomy with appendectomy was performed, but the clinical and laboratory symptoms persisted. There was a suspicion to gastrointestinal obstruction and the diagnostic imaging was done. Inhomogeneous infiltrative tumorous mass was found in the pylorus of the stomach and gastrofibroscopy with biopsy was performed. Histologic finding revealed the gastric adenocarcinoma. Later on, the patient died due to multi-organ dysfunction failure.
Solid organ tumours are rare complications of AT. In case of obstructive gastrointestinal symptoms, the possible presence of gastric adenocarcinoma should be taken into account and appropriate diagnostic approach should be performed. According to the literature, this is the second youngest reported patient with this complication.