Almousa Maher, Albeiruti Ahmad, Aljomaa Mohammad, Aleter Assem, Jarad Youssef
College of Human Medicine, University of Hama, Hama, Syria.
Department of Gastroenterology, Aleppo University Hospital, University of Aleppo, Aleppo, Syria.
SAGE Open Med Case Rep. 2022 Dec 6;10:2050313X221141538. doi: 10.1177/2050313X221141538. eCollection 2022.
Neurofibromatosis type 1 is an autosomal dominant disorder with cutaneous features and multiple tumors that involve different organs. Gastrointestinal stromal tumors are non-epithelial tumors associated with neurofibromatosis type 1 and arise from the gastrointestinal tract. Patients with gastrointestinal stromal tumor present most commonly with anemia due to overt or occult bleeding and in rare cases diagnosis might be delayed so patients present with gastrointestinal tract obstruction. Here, we report a rare case of an older patient with neurofibromatosis type 1, who was undiagnosed and presented with acute abdomen due to gastric outlet obstruction. It was caused by progressive gastrointestinal stromal tumor in the antrum of the stomach. Gastrointestinal stromal tumors should be considered in the differential diagnosis of gastric outlet obstruction, especially in patients with neurofibromatosis type 1.
1型神经纤维瘤病是一种常染色体显性疾病,具有皮肤特征和累及不同器官的多个肿瘤。胃肠道间质瘤是与1型神经纤维瘤病相关的非上皮性肿瘤,起源于胃肠道。胃肠道间质瘤患者最常见的表现是由于显性或隐性出血导致的贫血,在罕见情况下诊断可能会延迟,以至于患者出现胃肠道梗阻。在此,我们报告一例罕见病例,一名老年1型神经纤维瘤病患者,此前未被诊断,因胃出口梗阻出现急腹症。这是由胃窦部进行性胃肠道间质瘤引起的。在胃出口梗阻的鉴别诊断中应考虑胃肠道间质瘤,尤其是在1型神经纤维瘤病患者中。