title: Osteogenesis imperfecta, pseudoachalasia, and gastric cancer.
abstract: Osteogenesis imperfecta (OI) is a rare, inherited skeletal disorder characterized by abnormalities of type 1 collagen. Malignancy is rarely reported in patients with OI and it was suggested that this disease can protect against cancer. Here, we report a 41-year-old woman with symptoms of achalasia where repeated treatment of pneumatic dilation and stent replacement was unsuccessful; therefore, surgery was performed. Pathology showed gastric adenocarcinoma unexpectedly. Chemotherapy was given after assessing dihydropyrimidine dehydrogenase (DPD) enzyme activity, which can be deficient in OI patients. This is the first report of gastric cancer mimicking achalasia in a patient with OI.
authors: Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, Turkey.
authors: Dilsa
authors: D
authors: Mizrak
authors: Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, Turkey.
authors: Ali
authors: A
authors: Alkan
authors: Department of Internal Medicine, Ankara University School of Medicine, 06300 Ankara, Turkey.
authors: Batuhan
authors: B
authors: Erdogdu
authors: Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, Turkey.
authors: Gungor
authors: G
authors: Utkan