Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021933 (intussusception)
 3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Intestinal neurofibromatosis without other manifestations of von Recklinghausen's neurofibromatosis was found in a multigeneration family. Neurofibromas were strictly limited to the intestine. Onset of symptoms was delayed until adulthood and some gene carriers remained asymptomatic into their middle or late adult years. One other family with intestinal neurofibromatosis has been described in 1966. No symptomatic male is yet known, although an asymptomatic male in our family is an obligate gene carrier. The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients. No male-to-male transmission has been recorded to rule out X linkage. Intestinal neurofibromatosis presents as a distinctive dominant phenotype with an increased risk of intestinal problems including bleeding, intussusception and obstruction.
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PMID:Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. 315 25

Neurofibromas in the small intestine are usually accompanied by von Recklinghausen's disease (neurofibromatosis), and usually originate in the intramuscular plexus of Auerbach. We present here a solitary neurofibroma, which caused an ileocolic intussusception, originating in the submucosal plexus of Meissner in a non-neurofibromatosis patient. To our knowledge, there is no previous report of a neurofibroma originating in the plexus of Meissner. This condition was clearly confirmed by macroscopic and microscopic evaluation.
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PMID:Small ileal neurofibroma causing intussusception in a non-neurofibromatosis patient. 771 4

We report the case of a patient with von Recklinghausen's disease, who was admitted with a diagnosis of acute abdomen due to small bowel neurofibromatosis. The patient was submitted to an abdominal CT scan that showed a homogeneous round lesion, with a regular margin, probably belonging to the small bowel and with the appearance of a benign lesion that probably caused an intestinal intussusception. The patient was submitted to a surgical procedure that mainly consisted in multiple small bowel resections. The histopathological examination confirmed the benign nature of the lesions. About one third of patients affected by von Recklinghausen's disease present involvement of the bowel, but only 5% of them are symptomatic. The intestinal tumours are usually neurofibromas and are mainly localized in the jejunum. However, there have also been reports of stromal, nervous and endocrine tumours and even other tumours not belonging to these categories, including adenocarcinoma. The overall incidence of intestinal malignancy in patients with von Reckilnghausen's disease is about 10%. The surgical operation, as well as the histopathological and immunochemical examination of the intestinal lesions are of crucial importance for the treatment of the complications of intestinal neurofibromatosis and for the treatment and diagnosis of malignancy.
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PMID:[Von Recklinghausen's disease and intestinal neurofibromatosis: a case report]. 1274 3

A variety of miscellaneous conditions affect the appendix, both as incidental findings and as causes of clinical signs and symptoms that often mimic appendicitis. Congenital abnormalities of the appendix are rare; the two most commonly reported are congenital absence and appendiceal duplication. Diverticular disease may be an incidental finding, but when inflamed, can be clinically confused with appendicitis. Endometriosis of the appendix, which usually occurs in the setting of generalized gastrointestinal endometriosis, often presents as acute appendicitis, but may present as intussusception, lower intestinal bleeding, and, particularly during pregnancy, perforation. Peritoneal endosalpingiosis often involves the appendiceal serosa and occasionally the wall but has no clinical manifestations in contrast to endometriosis. Vasculitis may be either isolated to the appendix or part of a systemic vasculitis, most often polyarteritis nodosa. Neural proliferations of the appendix include lesions associated with von Recklinghausen's disease, as well as mucosal and axial neuromas that are theorized to progress to fibrous obliteration of the appendix. Mesenchymal tumors of the appendix are most often of smooth muscle type, usually leiomyoma but rarely leiomyosarcoma; nonmyogenic neoplasms such as gastrointestinal stromal tumor, granular cell tumor, Kaposi's sarcoma, and miscellaneous other curiosities occur rarely. Lymphoma affects the appendix exceptionally; in children, Burkitt lymphoma is most common whereas in adults, large cell lymphomas and low grade B-cell lymphomas predominate. Secondary involvement of the appendix by leukemia has been reported. Secondary involvement of the appendix by carcinomas of the female genital tract, particularly ovary, and diverse other sites are in aggregate common but only rarely a clinical or pathological difficulty. Occasionally, however, appendiceal neoplasia that is secondary from another site may dominate the clinical picture and lead to potential pathologic misdiagnosis as primary appendiceal disease.
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PMID:Miscellaneous conditions of the appendix. 1580 74

A variety of disorders-including infectious, inflammatory, hereditary, and metabolic diseases-may affect both the brain and abdominal cavity, and the findings in one region may help establish the diagnosis or limit the differential diagnosis. Establishing an accurate early diagnosis enables clinicians to adequately manage these unusual diseases and potentially avert life-threatening complications. For example, an early diagnosis of Gardner syndrome enables annual sigmoid- or colonoscopy and ultrasonography. In many conditions, abdominal manifestations precede neurologic manifestations and may have prognostic significance. Patients with celiac disease more often present with abdominal manifestations such as duodenitis, slow transit time, reversal of the jejunal-ileal fold pattern, and transient small bowel intussusception than with intracranial manifestations. In other conditions, the neurologic manifestations may be the same as the presenting symptoms. For example, patients with Gardner syndrome may initially present with multiple mandibular or sinonasal osteomas. In addition, sarcoidosis may manifest with multifocal enhancing dural masses. Abdominal and neurologic manifestations may even occur simultaneously, as in several of the phakomatoses such as neurofibromatosis type 1, tuberous sclerosis complex, and von Hippel-Lindau syndrome. Ultimately, familiarity with the appearances of these conditions allows radiologists to pinpoint a diagnosis, even when imaging findings in either location are nonspecific.
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PMID:Abdominal manifestations of neurologic disorders. 2332 34

Malignant Peripheral Nerve Sheath Tumours (MPNST) arises from a peripheral nerve or exhibit nerve sheath differentiation on histology. Proximal portions of the upper and lower extremities and the trunk are the most common sites of occurrence. Around 50% are associated with Neurofibromatosis Type 1 (NF1) with incidence of two to five per cent in patients with NF1. The estimated incidence in general population without NF1 is 0.0001% of which gastrointestinal MPNST are extremely rare. A 45-year-old lady without pathological antecedent for NF1 was admitted with pain in right lower abdomen and multiple episodes of vomiting for 3 months. Preoperatively intussusception was diagnosed in the small bowel with USG and CECT abdomen showing characteristic target sign. On laparotomy Ileo-ileal intussusception (proximal ileum telescoping into distal ileum) was found 2 feet proximal to ileo-caecal junction with surrounding inflammed mesentery and presence of intraluminal tumour as lead point. Resection of involved segment of ileum along with its mesentery was done followed by ileo-ileal anastomosis. Histopathology was suggestive of high grade MPNST. Postoperative course and follow up for last 10 month is uneventful. This case is unique in terms of a rare tumour presenting with unusual complication and only one case had been reported so far in western literature.
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PMID:Malignant Peripheral Nerve Sheath Tumour of Small Intestine Presenting as Ileo-Ileal Intussusception - A Rare Tumour with Unusual Complication. 2615 47