Medicina

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    “Megacolon agangliónico congénito”
    (Universidad Técnica de Ambato - Facultad de Ciencias de la Salud - Carrera de Medicina, 2018-06-01) Molina Pinto, Janine Alejandra; Sunta Ruiz, Mario LeopoldoDr. Esp.
    The congenital aganglionic megacolon is the absence of parasympathetic ganglion cells in the myenteric and submucosal plexus of the rectum, extending to the colon, caused by the failed migration of the ganglion cells of the colon during gestation. This leads to an aganglionic segment that can not relax, producing a functional obstruction of the colon. The predisposing risk factors to develop congenital aganglionic megacolon are: the genetic predisposition that is given by the EDN3 genes located in the long arm of chromosome 20, and EDNRB located in the long arm of chromosome 13 and RET; it is more frequent in the male sex in a ratio of 3-5: 1. The symptoms and signs that the pediatric population presents are: severe constipation, diarrhea, anemia, growth retardation, hyporexia, abdominal distension. The timely recognition and immediate treatment are essential to reduce the mortality and mortality associated with its more frequent complication, such as necrotizing enterocolitis. Early diagnosis is important, the method of choice is suction biopsy, it detects hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa. Its treatment is surgical, obtaining good results, being few cases that have presented recurrences. There are congenital malformations that can be associated with the congenital aganglionic megacolon, such as: heart disease, bone dysplasia, renal and urinary tract malformations such as bilateral pyeloureteral layering that occurred in this case, some form part of syndromes such as Down syndrome, Smith syndrome, Lemli-Opitz, Waardenberg syndrome, among others. The present case describes an 8-year-old patient with a history of chronic constipation, attended emergency due to constipation of more than 1 month of evolution, abdominal distension, hyporexia and vomiting, examinations and is admitted with presumptive diagnosis obstructive abdomen, is evaluated by the surgical service who analyze the case and decide surgical behavior, after which patient presents improvement of clinical picture, biopsy analysis is performed which confirms the diagnosis of congenital aganglionic megacolon, to the box is added recurrent urinary tract infection due to malformation in the urinary system Complications that occurred in the postoperative period were fecal incontinence, and periods of constipation which were identified in this case. Enterocolitis and enuresis are also described as possible complications.