Background Neurofibromatosis type 1 is an autosomal dominant inherited disease associated with multiple skin neurofibromas or other neurogenic tumors, such as nodular plexiform neurinoma or cerebrospinal tumor. Gastrointestinal stromal tumors are often complicated in patients with neurofibromatosis type 1, although involvement of the appendix is rare, and there have been few reports of appendiceal ganglioneuroma. Case presentation The patient was a 29-year-old man diagnosed with neurofibromatosis type 1 based on physical findings and his family history. During the follow-up of neurofibromatosis, computed tomography was performed to detect neurological tumors, such as neurofibromas in the brain, spinal cord, and gastrointestinal tract. Computed tomography showed a markedly thickened appendix wall, and an appendiceal tumor was suspected. Laparoscopic appendectomy was performed, and a 50 × 35 mm appendiceal submucosal tumor was resected with a negative resection margin. At histopathological examination, the tumor was diagnosed as ganglioneuroma; it showed short spindle-shaped cells and ganglion cells diffusely infiltrated into the proper muscle layer and fibrous tissue that grew around nerve cells. The patient was discharged on the 5th postoperative day without postoperative complications and was doing well at 13 months following the operation. Conclusions Gastrointestinal stromal tumor and neurofibroma are the most common gastrointestinal tumors associated with neurofibromatosis type 1, but ganglioneuroma of the appendix is rare. Appendiceal neurogenic tumors should be considered in patients with neurofibromatosis type 1, and surgical resection is necessary because of the risk of malignancy.
Background: Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor originating in the wall of the gastrointestinal tract, and 20-30% of these tumors originate from the small intestine. The clinical manifestations of GIST of the small intestine generally include a palpable mass, distention, and abdominal pain and sometimes include acute abdomen due to ileus, bleeding, perforation, and intussusception at onset. Here, we describe a rare case of a pedunculated GIST of the small intestine complicated by torsion.Case presentation: A 69-year-old woman was referred for lower abdominal pain. Abdominal contrast-enhanced computed tomography showed a 73×62×57-mm tumor in the pelvic cavity with an enhanced margin and reduced contrast effect inside of it. T2-weighted magnetic resonance imaging showed a hyperintense, demarcated, lobulated tumor. The diffusion-weighted image showed hyperintensity, and the apparent diffusion coefficient value revealed diffusion restriction, indicating malignancy. T1-weighted images showed a low intensity tumor; contrast-enhanced images showed hypointensity inside of the tumor and slight hyperintensity around its edges. It was presumed that the tumor had caused hemorrhagic infarction. Emergency laparotomy was performed, and the pedunculated tumor was found to be twisted 360 degrees clockwise at the pedicle with hemorrhage and necrosis due to torsion. We performed partial resection of the small intestine including the tumor. Histopathology revealed tightly arranged spindle-shaped cells with hemorrhage, congestion, and inflammatory cell infiltration. Immunohistochemical staining showed positivity for CD34, CD117, and DOG1.Conclusions: The present report describes a very rare case in which pedicle torsion of an extra luminal expanding GIST of small intestine, although there were some reports of small intestine volvulus caused by GIST of small intestine as a rare condition. The torsion of pedunculated GIST of small intestine should be recognized as an emergency condition of GIST, and we report that characteristic findings of this condition were acquired with CT and MRI which was possibility useful for the diagnosis.
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