Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer

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 w...

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Main Authors: Dilsa Mizrak, Ali Alkan, Batuhan Erdogdu, Gungor Utkan
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Gastrointestinal Medicine
Online Access:http://dx.doi.org/10.1155/2015/685459
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author Dilsa Mizrak
Ali Alkan
Batuhan Erdogdu
Gungor Utkan
author_facet Dilsa Mizrak
Ali Alkan
Batuhan Erdogdu
Gungor Utkan
author_sort Dilsa Mizrak
collection DOAJ
description 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.
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institution Kabale University
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publishDate 2015-01-01
publisher Wiley
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series Case Reports in Gastrointestinal Medicine
spelling doaj-art-6603599d16ec41618eb15dfbb447e74d2025-02-03T06:01:02ZengWileyCase Reports in Gastrointestinal Medicine2090-65282090-65362015-01-01201510.1155/2015/685459685459Osteogenesis Imperfecta, Pseudoachalasia, and Gastric CancerDilsa Mizrak0Ali Alkan1Batuhan Erdogdu2Gungor Utkan3Department of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, TurkeyDepartment of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, TurkeyDepartment of Internal Medicine, Ankara University School of Medicine, 06300 Ankara, TurkeyDepartment of Medical Oncology, Ankara University School of Medicine, 06300 Ankara, TurkeyOsteogenesis 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.http://dx.doi.org/10.1155/2015/685459
spellingShingle Dilsa Mizrak
Ali Alkan
Batuhan Erdogdu
Gungor Utkan
Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
Case Reports in Gastrointestinal Medicine
title Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
title_full Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
title_fullStr Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
title_full_unstemmed Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
title_short Osteogenesis Imperfecta, Pseudoachalasia, and Gastric Cancer
title_sort osteogenesis imperfecta pseudoachalasia and gastric cancer
url http://dx.doi.org/10.1155/2015/685459
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