Isolated intestinal neurofibromatous proliferations in the absence of associated systemic syndromes

Gastrointestinal tract involvement by neurofibromatous lesions is rare and occurs most frequently as one of the systemic manifestations of generalized neurofibromatosis type 1 （NF1）. In this setting, the lesions may manifest as focal scattered neurofibromas or as an extensive diffuse neural hyperplasia designated ganglioneuromatosis. Occasionally, such lesions may be the initial sign of NF1 in patients without any other clinical manifestations of the disease. Rarely, cases of isolated neurofibromatosis of the large bowel with no prior or subsequent evidence of generalized neurofibromatosis have been documented. We present the case of a 52 year-old female with abdominal pain and alternating bowel habits. Colonoscopic evaluation revealed multiple small polyps in the cecum and the presence of nodular mucosa in the colon and rectum. Pathologic evaluation of the biopsies from the cecum, descending colon, sigmoid colon, and rectum revealed tangled fascicles of spindle cells expanding the lamina propia leading to separation of the intestinal crypts. Immunohistochemical stains helped confirm the diagnosis of diffuse intestinal neurofibromatosis. A thorough clinical evaluation failed to reveal any stigmata of generalized neurofibromatosis. This case represents a rare presentation of isolated intestinal neurofibromatosis in a patient without classic systemic manifestations of generalized neurofibromatosis and highlights the need in such cases for close clinical follow-up to exclude neurofibromatosis type I or multiple endocrine neoplasia type Ⅱ.     

Neurofibromatosis of the colon and rectum combined with other manifestations of von Recklinghausen's disease

Gastrointestinal involvement of neurofibromatosis occurs in as many as 25 percent of cases. Neurofibroma occurs most frequently in the stomach and jejunum, but the colon may also be involved. This condition is characterized by multiple submucosal neurofibromas of the gastrointestinal tract and café au lait pigmentation, bony abnormalities, and neurofibromas of both central and peripheral nerves. The lesions consist of an overgrowth of neural tissue along with other mesenchymal elements. Gastrointestinal neurofibromas may cause occult bleeding, luminal obstruction, or intussusception. Malignant transformation into neurofibrosarcoma is rare. We encountered a case of neurofibromatosis diffusely involving the left colon, the sigmoid colon, and the rectum, which resulted in herniation of the mass through the anus, with intestinal obstruction. The patient also showed skin lesions of the neurofibromatosis. We report this case with a review of the literature.Address reprint requests to Dr. Kim: Chonnam University Medical School, Division of Gastroenterologic Surgery, Department of Surgery, Hakdong 8, Kawangju 501-757, Korea.     

Malignant peripheral nerve sheath tumor of the colon in a patient with von Recklinghausen’s disease: report of a case

Malignant peripheral nerve sheath tumor (MPNST) arising from the colon is an extremely rare clinical entity. We report one such case of an adult female with neurofibromatosis type I who presented with pain and a lump in her abdomen. A computed tomographic scan revealed a 10 × 8-cm mass in the splenic flexure of her colon that was compressing its lumen, but the results of a colonoscopy were normal. Segmental resection of the left colon was performed based on the clinical possibility of gastrointestinal stromal tumor. However, on histopathological examination and immunohistochemical staining, the final diagnosis came out to be MPNST. This case highlights that, although rare, the possibility of MPNST should be considered when dealing with extramucosal colonic wall tumors.     

Isolated intestinal neurofibromatosis of colon. Single case report and review of the literature

Isolated intestinal neurofibromatosis of the colon is a most unusual disease: from 1937 to 1999 only 12 cases have been reported. The differential diagnosis and treatment of this lesion are very difficult. A review of the literature is made and personal experience in the diagnosis and treatment of a case in a 68-year-old female is described.     

Malignant fibrous histiocytoma of the gastrointestinal tract in a patient with neurofibromatosis

Malignant fibrous histiocytoma (MFH) of the gastrointestinal tract is extremely rare. A case of MFH of the colon associated with neurofibromatosis is presented. MFH is a high-grade soft-tissue sarcoma of fibroblast cell origin with a strong propensity for metastasis and recurrence. Immunochemical markers help to differentiate MFH from other sarcomas. The most successful treatment of MFH is surgical extirpation. Adjuvant chemotherapy and radiotherapy have not been definitively shown to be of value.     

Solitary colonic neurofibroma in a patient with transient segmental colitis： Case report

Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 (Nfl, von Recklinghausen's disease). Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody diarrhea. A review of the literature is also included, concerning the disclosure of isolated neurofibromas in the gut and other body parts and the type of gastrointestinal involvement in von Recklinghausen's disease.     

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.     

Intra-abdominal plexiform neurofibromatosis including periportal, mesentery, and gastrointestinal tract involvement in neurofibromatosis type 1: case report and review of the literature

We report a case of intra-abdominal plexiform neurofibromatosis, including periportal, mesenteric, and gastrointestinal tract involvement, in a patient with von Recklinghausen’s disease/neurofibromatosis type 1 (NF-1). A 26-year-old man with familial NF-1 was admitted to hospital for further examination of an abnormal hepatic mass along the portal vein. Esophagogastroduodenoscopy revealed antral wall thickening and swelling of the papilla of Vater. Mucosal biopsies taken from the duodenum revealed possible ganglioneuromatosis. Abdominal ultrasonography, contrast-enhanced computed tomography, and magnetic resonance imaging revealed an abnormal periportal mass with serpiginous extension into the liver along the portal vein and the mesentery, which is the typical spread pattern of plexiform neurofibromatosis. A laparotomy and cholecystectomy for gallstones were performed, and this patient was diagnosed as having intra-abdominal plexiform neurofibromatosis. This is the 15th case of intrahepatic periportal plexiform neurofibromatosis and the 16th case of diffuse ganglioneuromatosis associated with NF-1 in the English literature. The imaging findings of the lesion have been followed for 10 years; there has been slight growth of the mass, but no malignant transformation has been found. The previously reported cases are reviewed.     

Intestinal neurofibromatosis with malignant degeneration

Summary and Conclusions A case of von Recklinghausen’s disease with neurofibromatosis of the intestinal tract is presented. Despite extensive involvement of the small and large intestines the patient was asymptomatic, as is often the case in neurofibromatosis. The nature of the abdominal tumor was suspected before operation, but the sarcomatous changes came as a surprise. Review of the literature reveals that these tumors associated with von Reckling-hausen’s disease are not as rare as is generally thought. We believe, like others, that in all cases of von Recklinghausen’s disease x-ray studies should be made of the chest, the gastro-intestinal tract and the large bowel to determine if there are other evidences of neurofibromatosis. When intestinal neurofibromatosis is diagnosed, it should be followed promptly by operation even if there are no clinical symptoms. Malignant degeneration may occur prior to operation, as was true in our case, and despite negative x-ray findings, when there are definite clinical symptoms an operation should be performed.     

A case of neurofibromatosis associated with a coronary artery aneurysm and myocardial infarction.

Aneurysms of the aorta, vertebral arteries, carotid artery, thyrocervical trunk, and mesenteric and celiac arteries have been described in patients with neurofibromatosis. These aneurysms may have part of the vessel wall replaced by neurofibromatosis tissue. One previous case reports a coronary artery aneurysm in a patient with neurofibromatosis who suffered a myocardial infarction due to thrombosis formation within the aneurysm. We document a second case of aneurysmal dilatation of a coronary artery in a patient with neurofibromatosis. This patient also had a myocardial infarction in a vascular distribution not involved by the aneurysm. The vascular changes associated with neurofibromatosis are reviewed. Aneurysmal dilatation of the coronary arteries may be a further vascular manifestation of this condition.     

A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma

A patient with neurofibromatosis type 1 and watery diarrhoea syndrome due to a VIP-producing adrenal phaeochromocytoma (Case Report). J Intern Med 1999; 246: 231-234. A 43-year-old patient with neurofibromatosis type 1 suffered from watery diarrhoea syndrome induced by excessive production of vasoactive intestinal polypeptide (VIP) in an adrenal phaeochromocytoma. This case report emphasizes that patients with neurofibromatosis are prone to develop more than one disease induced by tumours originating from the neural crest. Since excessive VIP production in a phaeochromocytoma may mask the symptoms of catecholamine overproduction, and in view of the therapeutic consequences, neurofibromatosis patients with hyperVIP-aemia must be checked for the presence of a phaeochromocytoma.     

Ileal polyposis as manifestation of neurofibromatosis syndrome.

A 13-year-old girl presented with features of intestinal obstruction. At surgery, the terminal 25 cm of ileum, which was resected along with the right colon, showed plexiform neurofibromatosis of the serosa and mesentery, hyperplastic submucosal and myenteric nerve plexuses and proliferation of neural tissue in the lamina propria, which manifested as diffuse polyposis of the ileal mucosa. The patient had a single inconspicuous external neurofibroma and a few café-au-lait spots on the back.     

A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal

Neurofibromatosis type 1 is a phacomatosis. Neurofibromas are the most common tumours associated with the disease, and along with other tumours, make neurofibromatosis type 1 the most common tumour predisposing syndrome in humans. Hypertension may be coincidental, but at least two specific neurofibromatosis related causes must be considered, namely neurofibromatous involvement of the renal artery and pheochromocytoma. We have described the first known case of a patient with neurofibromatosis type 1 who developed hypertension due to an aldosterone-producing adenoma of the adrenal. The question of whether this association was coincidental or due to the tumour predisposition of neurofibromatosis type 1 was debated.     

Multiple gastro-intestinal stromal tumors (GIST) in a patient with type I neurofibromatosis revealed by chronic bleeding: pre-operative radiological diagnosis

Recent studies have pointed out a high incidence of GIST, usually multiple and of small intestinal location, in patients with type I neurofibromatosis. We here report an additional case, revealed by chronic gastro-intestinal bleeding and diagnosed at pre-operative imaging studies. A 56-year-old patient, with known type I neurofibromatosis, was referred to our department for the exploration of chronic gastro-intestinal bleeding during anti-aggregant therapy. Endoscopical examination was negative. Enteroscanner showed the presence of four tumor lesions, 3 in the jejunum and 1 in the ileum. Segmental surgical resections were performed. At histological examination, 2 of among the 3 jejunal lesions were diagnosed as typical GIST, of low risk of malignancy, CD117+, CD34+, whereas the last jejunal and ileal lesions were identified as fibroid tumors. Mutations of c-kit gene and of the gene coding for PDGF-Ralpha were not detected. Post-operative recovery was uneventful; no recurrent bleeding was observed. Our case report underlines the potential role of enteroscanner in the management of patients with type I neurofibromatosis with possible digestive complications. It also emphasizes the importance of an accurate diagnosis of the digestive tumors associated with type I neurofibromatosis: GISTs are frequent in this setting and must not be misdiagnosed as neurofibromas.     

Gastrointestinal Hemorrhage Complicating Systemic Neurofibromatosis

A case of gastrointestinal hemorrhage eaused by small bowel neurofibromas in a gentleman with systemic neurofibromatosis is presented. The multiple presentations of gastrointestinal system involvement by neurofibromatosis are reviewed. Early diagnosis and localization of small bowel tumons remains a dilemma. Mesenteric angiography and early surgical intervention are recommended.     

Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease

Neurofibromatosis type 1 is the most common phakomatoses and is inherited in autosomal dominant fashion with complete penetrance. Secondary hypertension is common in these patients due to various causes including adrenal tumors. Pheochromocytoma is a rare catecholamine producing tumor seen in 0.5% to 5% of patients with neurofibromatosis. The combination of pheochromocytoma with neurofibromatosis is rarely reported in the literature. We recently encountered an elderly lady with this combination who successfully underwent adrenalectomy. We report the case for the uncommon occurrence and to highlight the relevant literature review about pheochromocytoma in neurofibromatosis.     

Acute GI bleeding by multiple jejunal gastrointestinal autonomic nerve tumour associated with neurofibromatosis type I.

We describe a surgical emergency due to GI-bleeding caused by gastrointestinal autonomic nerve tumours (GANT s) in a patient with von Recklinghausen s disease. A 72 year old female patient with von Recklinghausen s disease was admitted with maelena. Endoscopy showed no active bleeding in the stomach and the colon. Therefore an angio-CT-scan was performed which revealed masses of the proximal jejunum as source of bleeding. Laparotomy was indicated and a 20 cm segment of jejunum which carried multiple extraluminal tumours was resected. The source of the bleeding was a 2 cm tumour which had eroded the mucosal surface. Immunohistologically, evidence of neuronal differentiation could be shown in the spindle-formed cells with positive staining for C-Kit (CD 117), CD 34, and a locally positive staining for synaptophysine and S100. This case report illustrates the association between neurofibromatosis and stromal tumours and should alert surgeons and gastroenterologist about gastrointestinal manifestations in patients with von Recklinghausen s disease.     

Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type 1

We report the case of a 42-Year-old woman with Recklinghausen disease (neurofibromatosis type 1) and Noonan syndrome who developed Graves' disease. Hyperthyroidism, which had existed for two Years without treatment, led to the discovery of neurofibromatosis type 1. The diagnosis of Graves' disease was confirmed by blood hormone levels, thyroid gland ultrasound, radioisotope scan and thyroid iodine uptake. Additional tests were carried out due to the patient's short stature and the presence of subcutaneous nodules. Hyperprolactinemia, bone defects (bone density testing), and abnormal MRI signals from the optic chiasma were disclosed. The diagnosis of Recklinghausen disease was proven histologically. The possible co-existence of neurofibromatosis type 1 and Noonan syndrome are discussed on the basis of this clinical case.     

A quadricuspid aortic valve in a patient with neurofibromatosis type 1

Quadricuspid aortic valve is a rare cardiovascular abnormality. Herein is described the case of a male patient with neurofibromatosis type 1 (NF1) who was found to have a quadricuspid aortic valve causing severe aortic regurgitation. Although congenital cardiac malformations have been described in patients with NF1, to the best of the present authors' knowledge this is the first time that a quadricuspid valve in a patient with neurofibromatosis has been described.     

Arrhythmias in neurofibromatosis. A case report and review of the literature

Patients with neurofibromatosis have a higher incidence of anatomic cardiac abnormalities. However, there is little data regarding incidence of arrhythmias in this population. It is known that these patients have a higher mortality than the normal population, and it is possible that some deaths may be due to preventable causes such as cardiac arrhythmias. We report a patient with neurofibromatosis who was treated for a refractory seizure disorder for 8 years. However, video/EEG monitoring demonstrated that the patient had recurrent syncopal seizures secondary to sinus node dysfunction. Complete resolution of symptoms occurred after a permanent pacemaker implantation. We believe this is the first reported case of sinus node dysfunction associated with neurofibromatosis.