Abstract
Chronic intestinal pseudo-obstruction (CIPO) is a syndrome characterized by recurrent clinical episodes of intestinal obstruction in the absence of any mechanical cause occluding the gut. There are multiple causes related to this rare syndrome. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is one of the causes related to primary CIPO. MNGIE is caused by mutations in the gene encoding thymidine phosphorylase. These mutations lead to an accumulation of thymidine and deoxyuridine in blood and tissues of these patients. Toxic levels of these nucleosides induce mitochondrial DNA abnormalities leading to an abnormal intestinal motility.Herein, we described two rare cases of MNGIE syndrome associated with CIPO, which needed surgical treatment for gastrointestinal complications. In one patient, intra-abdominal hypertension and compartment syndrome generated as a result of the colonic distension forced to perform emergency surgery. In the other patient, a perforated duodenal diverticulum was the cause that forced to perform surgery. There is not a definitive treatment for MNGIE syndrome and survival does not exceed 40 years of age. Surgery only should be considered in some selected patients.
Highlights
Intestinal pseudo-obstruction is a rare and highly morbid syndrome characterized by impaired gastrointestinal propulsion together with symptoms and signs of bowel obstruction in the absence of any lesions occluding the gut lumen [1]
We described two rare cases of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome associated with chronic intestinal pseudo-obstruction (CIPO), which needed surgical treatment for gastrointestinal complications
CIPO is a rare syndrome characterized by dysfunction of gut propulsive motility which results in a clinical picture mimicking mechanical obstruction, in the absence of any mechanical process [1]
Summary
Intestinal pseudo-obstruction is a rare and highly morbid syndrome characterized by impaired gastrointestinal propulsion together with symptoms and signs of bowel obstruction in the absence of any lesions occluding the gut lumen [1]. Pseudo-obstructive syndromes may be either acute (due to abdominal surgery, retroperitoneal haemorrhage, spinal or pelvic trauma, myocardial infarction, or hypokalemia) or, more commonly, chronic. The latter form, that is, chronic intestinal pseudo-obstruction (CIPO) is an important cause of chronic functional intestinal failure. Abdominal distension and diarrhea have limited the oral intake of the patient and at the age of 18 years old she had a body mass index (BMI) of 16.2 Kg/m2. Case 2 A 22 year old woman with a gastrostomy since early childhood due to oral intolerance and progressive gastrointestinal dysmotility with vomiting, dysphagia, episodic abdominal pain and distension. At the age of 18 years a colectomy with ileostomy was performed due to a colonic perforation secondary to an acute episode of CIPO. Due to poor general condition and septic shock secondary to intestinal perforation, the patient died on postoperative day 12 at the intensive care unit
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