Abstract
Introduction: Gastric carcinoma is a rare tumor in childhood with mostly fatal prognosis. It is well recognized that children with severe combined immunodeficiency have an increased risk for atrophic gastritis and gastric lymphoma, but this association has never been described in children with X-linked agammaglobulinemia (XLA or Bruton's disease). We report the first case of a boy with XLA (diagnosis was confirmed by mutation analysis of the Btk gene) who developed gastric carcinoma following atrophic gastritis.
Case report: At the age of 15 years, the boy developed megaloblastic anemia, paresthesias, and ataxia due to vitamin B12-deficiency. A pathologic Schilling test confirmed a lack of intrinsic factor with reduced absorption of vitamin B12. At this time, gastroduodenoscopy revealed complete intestinal metaplasia with glandular epithelial dysplasia of the antral mucosa. Parenteral administration of vitamin B12 led to remission of all complaints. A second gastroduodenoscopy 9 months later showed a polypoid tumor near the pylorus. Histologic examination of biopsy material confirmed diagnosis of a highly differentiated gastric adenocarcinoma from the intestinal type. Complete gastrectomy with jejunal interposition was performed. The resected lymph nodes showed normal tissue without any hint for metastasis. As early as six months after operation, the boy was in good health without any abdominal discomfort. He showed sufficient weight gain. Today, ten years after diagnosis, the young man is still in good health, and repeated follow-up investigations gave no clue for relapse.
Conclusion: XLA may be associated with atrophic gastritis and gastric carcinoma. Children with XLA should be regularly screened for vitamin B12-deficiency. In case of atrophic gastritis, only repeated gastroduodenoscopies may allow early diagnosis of gastric malignancies.
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Lackmann, G., Niehues, T. & Wahn, V. 143 Gastric Adenocarcinoma In a Boy with X-Linked Agammaglobulinemia. Pediatr Res 56, 488 (2004). https://doi.org/10.1203/00006450-200409000-00166
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DOI: https://doi.org/10.1203/00006450-200409000-00166