title: Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports.
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.
authors.affiliation: Department of General Surgery, Hospital Universitario Central de Asturias, Oviedo, Spain. pgranerocastro@aecirujanos.es.
authors.forename: Pablo
authors.initials: P
authors.lastname: Granero Castro
authors.forename: Sebastián
authors.initials: S
authors.lastname: Fernández Arias
authors.forename: María
authors.initials: M
authors.lastname: Moreno Gijón
authors.forename: Paloma
authors.initials: P
authors.lastname: Alvarez Martínez
authors.forename: José
authors.initials: J
authors.lastname: Granero Trancón
authors.forename: Jose Antonio
authors.initials: JA
authors.lastname: Álvarez Pérez
authors.forename: Eduardo
authors.initials: E
authors.lastname: Lamamie Clairac
authors.forename: Juan José
authors.initials: JJ
authors.lastname: González González