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)

The authors present the case of a 17-year-old girl with tuberous sclerosis (TS) who presented with symptoms of intussusception. Although endoscopically diagnosed with multiple colonic polyps, presumed to be hamartomas, and an invasive rectal adenocarcinoma, postoperative pathology findings confirmed the rectal cancer and showed multiple colonic adenomas. Multiple colonic adenomatous polyps in a young girl with tuberous sclerosis is extremely rare. Furthermore, we believe that this is the first report of an invasive adenocarcinoma of the large intestine occurring in a patient with TS.
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PMID:Adenocarcinoma of the rectum with associated colorectal adenomatous polyps in tuberous sclerosis: a case report. 1147 87

Angiomyolipomas (AMLs), a form of benign mesenchymal hamartoma, arise primarily in the kidneys of patients with or without tuberous sclerosis. Extra-renal AMLs are very rare and are most commonly found in the liver. AMLs of the small intestine are exceedingly rare. Here, a case of a 28-year-old man, who presented with ileal intussusception caused by ileal AML is reported. The clinicopathological and immunohistochemical findings of ileal AMLs are discussed and the literature on small intestinal AMLs is reviewed.
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PMID:Ileal angiomyolipoma manifested by small intestinal intussusception. 1929 73

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

A 53-year-old man with tuberous sclerosis complex presented with severe, acute, right lower quadrant pain. The patient was found to have ileocolonic intussusception and a cecal mass on imaging. Diagnostic colonoscopy revealed a 3-cm cecal lesion which was grossly equivocal for hamartoma, adenoma, or other neoplasm, biopsies of which revealed villous adenoma. Given the lesion was believed to represent the trigger point for intussusception, the patient was referred for surgical resection, the histopathology from which the lesion was identified to be invasive adenocarcinoma. The patient underwent hemicolectomy, with plans for routine postoperative colon cancer surveillance. This case is unique because previously published literature has not described adenocarcinoma in an adult with tuberous sclerosis complex and it calls attention to the need to maintain unsuspected cancer high on the differential in adults with intussusception.
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PMID:Intussusception in the Setting of Tuberous Sclerosis Complex. 3183 70