Garland Kenneth, Parikh Sarthak, Goodwin Robert
Trauma Institute, Saint Francis Health System, Tulsa, USA.
Orthopedics, Oklahoma State University Medical Center, Tulsa, USA.
Cureus. 2024 Dec 19;16(12):e76028. doi: 10.7759/cureus.76028. eCollection 2024 Dec.
Gastrointestinal stromal tumors (GISTs), though rare, are associated with neurofibromatosis (NF) type 1 and may cause significant gastrointestinal bleeding. A 42-year-old male with NF1 presented with severe hematochezia and underwent initial non-contrast CT, which was negative for abnormalities. Subsequent endoscopies and PillCam studies also revealed no clear bleeding source. Due to persistent bleeding and hemodynamic instability, a contrast-enhanced CT was eventually performed, revealing a hyper-enhancing mass in the proximal ileum. Emergent surgical exploration identified a 1.5-cm jejunal GIST, which was resected successfully, stabilizing the patient who was discharged without the need for adjuvant therapy. This case highlights the importance of early contrast-enhanced imaging in NF1 patients presenting with acute bleeding to facilitate timely diagnosis, reduce hospital resource utilization, and avoid unnecessary invasive procedures.
胃肠道间质瘤（GISTs）虽然罕见，但与1型神经纤维瘤病（NF）相关，且可能导致严重的胃肠道出血。一名患有NF1的42岁男性出现严重便血，最初接受了非增强CT检查，结果未发现异常。随后的内镜检查和胶囊内镜检查也未发现明确的出血源。由于持续出血和血流动力学不稳定，最终进行了增强CT检查，发现回肠近端有一个强化明显的肿块。急诊手术探查发现一个1.5厘米的空肠GIST，成功切除，患者病情稳定，出院时无需辅助治疗。该病例强调了早期增强成像对出现急性出血的NF1患者的重要性，有助于及时诊断、减少医院资源利用并避免不必要的侵入性操作。
