Recurrent abdominal complaints caused by a cecal neurofibroma: a case report

Gastrointestinal involvement of neurof ibromatosis type 1 (NF1, Von Recklinghausen’s disease) is generally associated with the upper gastrointestinal tract. Abdominal manifestation of NF1 includes several tumors such as malignant peripheral nerve sheath tumors, gastrointestinal stromal tumors and ampulla of vater tumors. However, colonic involvement in NF1 patients is rare. We report a case of a patient presenting with dysphagia, weight loss, intermittent abdominal pain and constipation caused by a single c...     

Small bowel volvulus as a complication of von Recklinghausen’s disease:A case report

We report the case of a 25-year-old male with Neurofibromatosis typeⅠ(NF-1),who presented at the time of admission with clinical findings of an acute abdomen caused by a mechanical obstruction.Computerized tomography showed a volvulus of the terminal ileum with mesenteric swirling as the cause of the patient’s symptoms.Consecutive exploratory laparotomy confirmed the diagnosis and 70 cm of the small intestine was resected due to an affection of the mesentery by multiple neurofibromas.The gastrointestinal tract is affected in approximately 10%of patients with NF-1,however the mesentery is almost always spared.Here we describe the unique case of a patient with a volvulus caused by mesenteric manifestation of von Recklinghausen’s disease,emphasizing the role of surgery in a team of multidisciplinary specialists to treat this multiorganic disease.     

Gastrointestinal stromal tumour of the rectum： Report of a case and review of literature

Gastrointestinal stromal tumour （GIST） is a rare tumour of the gastrointestinal tract which does not generally originate in the rectum. The authors describe a case of a 70-year-old man who underwent an anterior resection of the rectum for a low-risk GIST. The patient was not given adjuvant chemotherapy with imatinib and is still disease-free 30 mo after surgery. The authors conclude that although rectal GIST is extremely uncommon, it should be included in differential diagnosis when a tumour in the rectum is detected. Biopsy of the tumour is essential, since this makes it possible to reach a sure preoperative diagnosis based on the immunohistological features of the CDl17 and CD34. Although complete surgical resection with negative tumour margins is the principal curative procedure for primary and nonmetastatic tumours, further studies are still needed for the determination of the most effective treatment strategy for patients with rectal GIST.     

Perforation of metastatic melanoma to the small bowel with simultaneous gastrointestinal stromal tumor

The gastrointestinal tract (GIT) is a common site of metastases for malignant melanoma. These metastatic tumors are often asymptomatic. We describe a case of a 58-year-old male who presented with a sudden onset of generalized abdominal pain. The patient's past medical history was significant for lentigo melanoma of the right cheek. Laparotomy was performed and two segments of small bowel, one with a perforated tumor, the other with a non-perforated tumor, were removed. Histology and immunohistochemical staining revealed the perforated tumor to be a metastatic malignant melanoma and the non-perforated tumor was found to be a gastrointestinal stromal tumor (GIST). The patient was discharged 7 d postoperatively. To the best of our knowledge, this is the first reported case in the literature of a simultaneous metastatic malignant melanoma and a GIST. Surgical intervention is warranted in patients with symptomatic GIT metastases to improve the quality of life or in those patients with surgical emergencies.     

Solitary plexiform neurofibroma of the stomach:A case report

Plexiform neurofibroma(PN)of the digestive tract is very rare and usually part of the generalized syndrome of neurofibromatosis type 1(von Recklinghausen disease).Solitary PN of the stomach is extremely rare and has not been reported in the literatures.Here we present a case of solitary PN of the stomach,which was not associated with von Recklinghausen disease.A38-year-old male presented abdominal pain and distention for 7 d.The patient underwent endoscopy of the upper gastrointestinal tract,which revealed a 3.5 cm protruding and cauliflower-shaped mass with a shallow1 cm central ulcer in the greater curvature of the stomach.The lesion was removed by laparoscopic surgery.Histological examination demonstrated characteristic histological findings of spindle-shaped cells.Immunohistochemical analysis showed that the tumor cells were positive for S-100 protein,but negative for CD34,KI-67,CD117,and actin.Based on histological findings,gastrointestinal stromal tumor could be excluded,and thus the case was confirmed as PN.We described the clinical features,physical examination,endoscopic findings,and histopathological examination of this case.     

Peritonitis with small bowel perforation caused by a fish bone in a healthy patient

Perforation of the gastrointestinal tract by ingested foreign bodies is extremely rare in otherwise healthy patients, accounting for < 1% of cases. Accidentally ingested foreign bodies could cause small bowel perforation through a hernia sac, Meckel’s diverticulum, or the appendix, all of which are uncommon. Despite their sharp ends and elongated shape, bowel perforation caused by ingested fish bones is rarely reported, particularly in patients without intestinal disease. We report a case of 57-year-old female who visited the emergency room with periumbilical pain and no history of underlying intestinal disease or intra-abdominal surgery. Abdominal computed tomography and exploratory laparotomy revealed a small bowel micro-perforation with a 2.7-cm fish bone penetrating the jejunal wall.     

Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden＇s disease

Cowden＇s disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden＇s disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden＇s disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden＇s disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten （PTEN） gene was found in this case. It was a point mutation of C to T at codon 1003 （CGA--~TGA, arginine--~stop codon）. The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden＇s disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden＇s disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden＇s disease.     

Double-balloon endoscopy-diagnosed multiple small intestinal ulcers in a Churg-Strauss syndrome patient

Churg-Strauss syndrome(CSS) is a systemic vascular disorder characterized by severe bronchial asthma hypereosinophilia,and allergic rhinitis.Small intestina ulcers associated with CSS are a relatively rare manifestation that causes gastrointestinal bleeding.Multiple deep ulcers with an irregular shape are characteristic of small intestinal involvement of CSS.Video-capsuleendoscopy(VCE),double-balloon endoscopy(DBE) and Spirus assisted enteroscopy have been developed recently and enabled observation of the small intestine In this case report,we have described a patient with CSS who had multiple deep ulcers in the jejunum detected by oral DBE.Since severe gastrointestinal(GI) involvement has been identified as an independent factor associated with poor outcome,the careful investigation of GI tract must be needed for CSS patients with GI symptoms.We describe the usefulness of DBE for diagnosis of small intestinal ulcers in patient with CSS.     

Gastrointestinal autonomic nerve tumors： A surgical point of view

AIM: Gastrointestinal autonomic nerve tumors are uncommon stromal tumors of the intestinal tract. Their histological appearance is similar to that of other gastrointestinal stromal tumors. We report two cases and performed an analysis of the literature by comparing our findings with the available case reports in the medical literature.METHODS: Two patients were admitted with abdominal tumor masses. One occurred in the stomach with large multiple liver metastases and the second originated in Meckel‘s diverticulum. The latter site has never been reported previously. Both patients underwent surgery. In one patient gastrectomy, right liver resection and colon transversum resection were performed to achieve aggressive tumor debulking. In the other patient the tumor bearing diverticulum was removed.RESULTS: Postoperative recovery of both patients was uneventful. Histological examination, immunohistochemical analysis and electron microscopy revealed the diagnosis of a gastrointestinal autonomic nerve tumor. The patient with the tumor in Meckel‘s diverticulum died 6 mo after surgery because of pneumonia. The patient with liver metastases have been alive 13 years after initial tumor diagnosis and 7 years after surgery with no evidence of tumor progression. In light of our results, we performed athorough comparison with available literature reports.CONCLUSION: Radical surgical resection of gastrointestinal autonomic nerve tumors seems to be the only available curative approach to date, and long term survival is possibleeven in large metastasized tumors.     

Third degree atrioventricular block associated with treatment with rivastig-mine transdermal patch

Rivastigmine transdermal patch is indicated for patients with Alzheimer’s disease and dementia with Parkinson’s disease. Rivastigmine, an acetylcholinesterase inhibitor, has several common adverse effects, mainly involving the gastrointestinal tract, but few cardiovascular adverse effects have been reported. This report presents two cases of patients presenting with 3rd degree atrioventricular block. Both patients were treated with the acetylcholinesterase inhibitor, rivastigmine. In one case, the patient reverted to normal sinus rhythm following the discontinuation of rivastigmine, and the atrioventricular block reappeared after rivastigmine was reinstated. In the other case, the atrioventricular block did not revert and the patient required a permanent pacemaker. Both bradycardia and syncope have previously been reported as adverse events in patients treated with acetylcholinesterase inhibitors. However, the type of bradycardia and the etiology of the syncope are rarely specified. Rivastigmine, and other acetylcholinesterase inhibitors, are widely used in the pharmacological treatment of Alzheimer′s disease. We recommend that physicians are vigilant of possible warning signs, such as dizziness, syncope and bradycardia.     

A rare cause of obstructive jaundice and weight loss in Von Recklinghausen's disease

We present the case of a patient with the rare triad of Von Recklinghausen's disease associated with a somatostatinoma and a gastrointestinal stromal tumour (GIST). The patient had recurrent jaundice, the typical somatostatinoma syndrome, positive MR imaging but negative ??Ga-DOTATOC PET scanning in a histopathology-proven somatostatinoma tumour.     

Nonchromaffin neurogenic tumors of the intestinal tract. A report of 2 cases and their relation to von Recklinghausen's neurofibromatosis]

Two patients with neurogenic gastrointestinal tumors are reported. One of them was a gangliocytic paraganglioma of the duodenum. The second one, a jejunal tumors in a patient with Von Recklinghausen's disease (ganglioneuroma). The neural crest origin of these tumours is discussed.     

Gastrointestinal complications of von Recklinghausen's disease: two case reports and a review of the literature

There are few reports of the association between neurofibromatosis (von Recklinghausen's disease) and large, solid stromal tumours of the gastrointestinal tract. The prevalence of gastrointestinal involvement in von Recklinghausen's disease has been estimated at 11%-25%. Some associated gastrointestinal stromal tumours present clinically as bowel obstruction, perforation or gastrointestinal bleeding. We recently treated two patients with this condition who presented with gastrointestinal bleeding and were diagnosed with gastrointestinal stromal tumours. We report the unique aspects of these cases and discuss the diagnostic and management problems that are posed by this unusual association.     

Somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease

We report a case of somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease (VRD). A 64-year-old woman who had had recurrent attacks of acute pancreatitis and cholangitis was found, on gastroduodenal endoscopy, to have a tumor of the papilla of Vater and multiple submucosal tumors of the stomach and duodenum. Numerous submucosal tumors were observed in the stomach, duodenum, and jejunum, and total excision of the papilla of Vater and resection of the duodenal and jejunal submucosal tumors was performed. The tumor of the papilla of Vater showed the histologic appearance of a dense proliferation of tumor cells in acinar form, from the duodenal mucosa to the muscle layer, and psammoma bodies were revealed within the tumor. Immunohistologically, the tumor cells were intensely positive for somatostatin. The submucosal tumors of the duodenum and jejunum were negative for smooth muscle actin, s-100, and neuron-specific enolase (NSE), and positive for CD34 and c-kit, and they were diagnosed as gastrointestinal stromal tumors (GISTs) according to the strict definition. The only 25 cases of papilla of Vater somatostatinoma associated with VRD to have been reported in the English-language literature since 1982 are reviewed, as well as our own case. Received: January 22, 2001 / Accepted: August 10, 2001 Reprint requests to: M. Usui     

Gastrointestinal stromal tumor of gastrohepatic omentum in a patient with von Recklinghausen's disease (neurofibromatosis type 1)

It is very rare to find large gastrointestinal stromal tumors arising from the gastrohepatic omentum in a patient with neurofibromatosis type 1. We here document a case of two large gastrointestinal stromal tumors arising from the gastrohepatic omentum in a patient with von Recklinghausen's disease. In the present case, two large tumors in the lesser sac were evident on preoperative computed tomography and magnetic resonance imaging and were surgically removed successfully. Biopsy was suggestive of gastrointestinal stromal tumors.     

Neoadjuvant imatinib in a locally advanced gastrointestinal stromal tumour (GIST) of the rectum: a rare case of two GISTs within a family without a familial GIST syndrome

Gastrointestinal stromal tumours are rare tumours of the gastrointestinal tract. We describe the case of a 57-year-old man with a locally advanced gastrointestinal stromal tumour of the rectum. We started Gleevec. The pathological examination documented a complete pathological response. An already described mutation in KIT exon 11 was observed in the gastrointestinal stromal tumour of the rectum. At the same time as the treatment of our patient, his brother received a neoadjuvant therapy for a locally advanced rectal adenocarcinoma. During the surgical procedure, a gastric lesion was excised and the pathological examination showed a low-grade gastrointestinal stromal tumour. We analysed DNA extracted from the tumoral mass and normal tissue of both patients. No mutations, either in KIT or in PDGFRA, were detected in the subserosal stomach gastrointestinal stromal tumour. After 18 months, both patients are free from recurrence. Our clinical case suggests that preoperative imatinib therapy may enable radical surgery in patients with an inoperable disease.     

Von Recklinghausen's vasculopathy

Vasculopathy in the syndrome of Von Recklinghausen's neurofibromatosis is a well known but clinically underestimated phenomenon. Its manifestations have included renovascular hypertension, occlusive cerebrovascular disease and visceral ischemia. The progressive arterial disease may involve small vessels on a regular basis and large vessels in a variety of angiographic patterns. A young neurofibromatosis patient is described with an aneurysm of the superior mesenteric artery complicating renovascular hypertension associated with aortic coarctation and renal artery stenosis. This unique angiographic demonstration illustrates the therapeutic dilemmas posed by the vascular disease associated with Von Recklinghausen's neurofibromatosis.     

Giant gastrointestinal stromal tumour of rare sarcomatoid epithelioid subtype:Case study and literature review

Gastrointestinal stromal tumours(GISTs) are the most common mesenchymal tumours of the gastrointestinal tract,but they represent less than 3% of all gastrointestinal tract malignancies.This is a detailed case study of a 52-yearold male patient treated for very uncommon histological subtype of gastric GIST with atypical clinical presentation,asymptomatic progress and late diagnosis.The resected tumour,giant in diameters,was confirmed to represent the most rare histopathologic subtype of GISTs- sarcomatoid epithelioid GIST.We report this case and review the literature with a special focus on pathomorphological evaluation,biological aggressiveness and prognostic factors.To our knowledge this is the first report of giant GIST of very uncommon sarcomatoid epithelioid subtype.It is concluded that clinicians should pay attention to the fact that initial diagnosis may be delayed due to mildly asymptomatic and non-specific clinical presentation.Asymptomatic tumours diagnosed at a late stage,which is often the case,can be large on presentation.Prognosis for patients diagnosed with GIST depend on tumour size,mitotic rate,histopathologic subtype and tumour location.That is why early diagnosis and R0 resection,which is usually feasible and safe even in giant gastric sarcomatoid epithelioid subtype of GISTs,are the key factors for further treatment and good prognosis.     

Simultaneous involvement of the jejunum and the colon by type-1 neurofibromatosis

Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the duodenum and periampullar region. Not infrequently, these patients present with gastrointestinal bleeding. We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneuromatosis in the colon.