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)

Patients who are homozygous for thalassemia major are at risk for Yersinia enterocolitica infections. We present a case of a 4-year-old child with intussusception of the terminal ileum whose past medical history was significant for beta-thalassemia. His monthly blood transfusions for this condition may have put him at risk for Y enterocolitica enterocolitis. The pathogenesis of this disease relates to the role of iron as an essential growth factor for Yersinia, and this patient's transfusions left him in an iron-overloaded state, despite treatment with Desferal. Our patient's unusual presentation of intussusception was secondary to the mass effect caused by lymphoid hyperplasia, specifically hypertrophied Peyer's patches in the ileum caused by Y enterocolitica infection. To our knowledge, this is the first such case of intussusception caused by Yersinia to be reported.
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PMID:Intussusception due to Yersinia enterocolitica enterocolitis in a patient with beta-thalassemia. 1169 9

Vascular lesions of the gastrointestinal (GI) tract include arterio-venous malformations as angiodysplasia and Dieulafoy's lesion, venous ectasias (multiple phlebectasias and haemorroids), teleangiectasias which can be associated with hereditary hemorrhagic teleangiectasia (HHT), Turner's syndrome and systemic sclerosis, haemangioma's, angiosarcoma's and disorders of connective tissue affecting blood vessels as pseudoxanthoma elasticum and Ehlers-Danlos's disease. As a group, they are relatively rare lesions that however may be a major source of upper and lower gastrointestinal bleeding. Clinical presentation is variable, ranging from asymptomatic cases over iron deficiency anaemia to acute or recurrent bleeding that may be life-threatening. Furthermore, patients may present with other symptoms, e.g. pain, dysphagia, odynophagia, the presence of a palpable mass, intussusception, obstruction, haemodynamic problems resulting from high cardiac output, lymphatic abnormalities with protein loosing enteropathy and ascites, or dermatological and somatic features in syndromal cases. Diagnosis can usually be made using endoscopy, sometimes with additional biopsy. Barium radiography, angiography, intraoperative enteroscopy, tagged red blood cell scan, CT-scan and MRI-scan may offer additional information. Treatment can be symptomatic, including iron supplements and transfusion therapy or causal, including therapeutic endoscopy (laser, electrocautery, heater probe or injection sclerotherapy), therapeutic angiography and surgery. The mode of treatment is of course depending on the mode of presentation and other factors such as associated disorders. If endoscopic or angiographic therapy is impossible and surgical intervention not indicated, pharmacological therapy may be warranted. Good results have been reported with different drugs, albeit most of them have not been tested in large trials.
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PMID:Vascular lesions of the gastrointestinal tract. 1261 28

The usual form of presentation of celiac disease is chronic diarrhoea and deficiencies of vitamin D, vitamin K, iron and vitamin B12, due to malabsorption. Intestinal obstruction secondary to an intussusception is rare in adults and usually is a complication of carcinoma of the colon or post-operative adhesions. We report a 45 year-old female consulting for diarrhoea and vomiting lasting one week and progressive abdominal bloating. A plain abdominal X ray showed air fluid levels in the small bowel and a CT scan showed an intussusception. She was operated and discharged but continued with diarrhoea. She was admitted again and a new CT scan showed three intussusceptions that were resolved with the administration of oral contrast media. Antiendomisial antibodies were positive and a celiac disease was diagnosed. After one year with a gluten free diet, the patient remains asymptomatic.
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PMID:[Celiac disease presenting as an intestinal intussusception. Report of one case]. 1903 Jun 64

Yersinia enterocolitica intussusception is rarely encountered in patients without an underlying susceptibility and is most frequently reported in iron-overloaded patients. This is thought to be related to the unusual use of iron by this microorganism. We present a case of a 5-year old child with intussusception of the terminal ileum caused by Y. enterocolitica whose past medical history was significant for sickle cell disease. This type of presentation is extremely rare. His monthly blood transfusions may have put him at risk for Y. enterocolitica enterocolitis. The pathogenesis of this disease relates to the role of iron as an essential growth factor for Y. enterocolitica, and this patient's transfusions left him in an iron overloaded state despite treatment with Deferoxamine. Our patient's unusual presentation of intusssuception was secondary to the mass effect caused by lymphoid hyperplasia, specifically hypertrophied Peyer's patches in the ileum caused by the Y. enterocolitica infection. We believe that our case demonstrates that Y. enterocolitica should be considered a possible pathogen in patients with sickle cell disease, especially if symptoms occur shortly after blood transfusion.
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PMID:Intussusception Caused by Yersinia enterocolitica Enterocolitis in a Patient with Sickle Cell Anemia. 2115 49

Intestinal occlusion due to intussusception produced by intestinal tumors is a very rare condition. Gastrointestinal stromal tumors are also rare digestive neopasias, with an impredictable malignant behavior, which are usually growing outside the intestinal wall, being rarely the initiators of an intestinal intussusception. We present the case of a 59 years old female, admitted in our hospital to elucidate the etiology of her iron deficient anaemia, which developed an intestinal occlusion at the intestinal preparation for colonoscopy. The abdominal CT scan performed in emergency conditions highlighted occlusive intestinal tumor complicated with intestinal intussusception. We performed an emergency laparotomy that revealed intestinal occlusion due to ileo-ileal intussusception produced by an ileal tumor. The surgical intervention consisted in segmental ileal enterectomy including the tumor with latero-lateral entero-enteral anastomosis. The patient recovered without complications. The histopathological and immunohisto-chemical examinations established the diagnose of gastro-intestinal stromal tumor with high risk malignant behavior, therefore the patient was guided in the oncological department for specific treatment and oncological surveillance.
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PMID:[Intestinal intussusception due to ileal gastrointestinal stromal tumor--a case report]. 2152 69

Blue Rubber Bleb Nevus Syndrome (BRBNS) is an uncommon congenital disorder characterized by sporadic venous malformation which mainly occurs in skin and alimentary canal. Here, we report a BRBNS patient with concomitant intestinal intussusception who diagnosed by intraoperative endoscopy and ultimately managed using surgical resection. A 19-year-old boy was referred to urgent surgery for acute melena and stomachache. He had used to be a long-term iron user for undiagnosed chronic anemia and papules. Abdominal CT on admission demonstrated the presence of intestinal intussusception. The following exploratory laparotomy and intraoperative endoscopy revealed multiple gastrointestinal hemangiomas. The postoperative course was uneventful and pathological examination certified multiple cavernous hemangiomas in the resected gastrointestines.
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PMID:Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report. 2523 9

For many patients, bariatric surgery results in enduring weight loss and comorbidity resolution, but it is not without risk of complications. Complications necessitating possible surgical intervention include small bowel obstruction, internal hernia, intussusception, anastomotic ulcer, and anastomotic leak. Medical complications include dumping syndrome; osteoporosis; substance abuse; nephrolithiasis; high suicide rates; and nutritional deficiencies, some of which can result in neurologic disorders. Patients need to take daily multivitamins with minerals (containing iron, copper thiamine, and folic acid), vitamin D, and calcium to prevent nutritional deficiencies. Patients also need to consume 1 to 1.5 g of protein per kilogram of ideal body weight daily. Vitamin levels should be assessed on a regular basis to monitor for deficiencies and prevent neurologic sequelae.
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PMID:Obesity: long-term management after bariatric surgery. 2532 19

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterized by multiple venous malformations and hemangiomas in the skin and visceral organs. The lesions often involve the cutaneous and gastrointestinal systems. Other organs can also be involved, such as the central nervous system, liver, and muscles. The most common symptoms are gastrointestinal bleeding and secondary iron deficiency anemia. The syndrome may also present with severe complications such as rupture, intestinal torsion, and intussusception, and can even cause death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of gastrointestinal lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy, such as iron supplementation and blood transfusion. For more significant hemorrhages or severe complications, surgical resection, endoscopic sclerosis, and laser photocoagulation have been proposed. Here we present a case of BRBNS in a 45-year-old woman involving 16 sites including the scalp, eyelid, orbit, lip, tongue, face, back, upper and lower limbs, buttocks, root of neck, clavicle area, superior mediastinum, glottis, esophagus, colon, and anus, with secondary severe anemia. In addition, we summarize the epidemiology, clinical manifestations, diagnosis, differential diagnosis and therapies of this disease by analyzing all previously reported cases to enhance the awareness of this syndrome.
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PMID:Blue rubber bleb nevus syndrome: a case report and literature review. 2549 43

We present the case of an 18-year-old male patient that was referred to our gastrenterology department with history of intermittent painless hematochezia since childhood. During such instances, he was diagnosed with bowel intussusception, eosinophilic gastroenteritis and inflammatory bowel disease at 4, 6 and 8 years old, respectively. He underwent treatment with 5-aminosalicylic acid for two years, without improvement of symptoms. He was then lost to follow-up until our observation. His physical examination was unremarkable except for digital rectal examination which found a nodular compressible mass by the palpating finger. Blood tests revealed a mild iron deficiency anemia. The colonoscopy showed an extended reddish and bluish multinodular submucosal mass in the rectum, suggesting diffuse cavernous hemangioma of the rectum (DHCR). The Magnetic Resonance Imaging, showed diffuse thickening of the entire rectum extending into the distal sigmoid with the mesorectum revealing multiple serpiginous structures, corresponding to abnormal blood vessels. After discussion, we considered to perform a sphincter-sparing procedure, namely pull through transection and coloanal anastomosis. However, intervention was ruled out by the patient because of his fear of anal incontinence and permanent colostomy. We adopted a conservative strategy with clinical surveillance and iron supplementation. At the present, the patient remains with intermittent rectal bleeding, referring poor quality of life due to his ongoing symptoms. This is a rare case of DHCR. Despite of being a benign disease, the management of DHCR requires a sphincter mucosectomy and pull-through coloanal sleeve anastomosis which has become the first-line procedure. The surgical outcomes are non-expectable in 32% with permanent sphincter lesion or with incomplete DHCR removal. As in this case, the surgeons or patients refusal to perform the intervention is common which represents a challenge to the clinical follow-up.
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PMID:Hemangioma of the rectum - How misleading can hematochezia be? 2755 85