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      Aganglionosis del recto en el adulto Translated title: Aganglionosis of rectum present in the adult

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          Abstract

          Se reporta el caso de una paciente remitida con la impresión diagnóstica de tumoración de colon. La paciente presentaba distensión abdominal marcada desde hace más de un mes, sin poder defecar, aunque sí expulsaba gases. No refería dolor abdominal ni vómitos. A su ingreso y al profundizar en la anamnesis, expresa que desde la infancia presentaba demora de varios días para defecar. Fue intervenida quirúrgicamente, se tomó muestra del recto y su estudio definió una aganglionosis. La inhabitual documentación de esta enfermedad en los adultos resalta la singularidad de este caso.

          Translated abstract

          We report the case a female patient referred with the diagnostic criterion of colon tumor. Patients had a marked abdominal distention from more than a month, without defecation, although with gases ejection, and neither reports of pain nor vomits. At admission and to study in depth the anamnesis, she expressed that during its childhood had a delay to defecate. She was operated on with a rectum biopsy, and its study defined la presence of aganglionosis. The non habitual documentation of this disease present in adults emphasizes the singularity of this case.

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          Most cited references6

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          Hirschsprung disease, associated syndromes, and genetics: a review.

          J. Amiel (2001)
          Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric ganglia along a variable length of the intestine. In the last decades, the development of surgical approaches has dramatically decreased mortality and morbidity, which has allowed the emergence of familial cases. HSCR appeared to be a multifactorial malformation with low, sex dependent penetrance and variable expression according to the length of the aganglionic segment, suggesting the involvement of one or more gene(s) with low penetrance. So far, eight genes have been found to be involved in HSCR. This frequent congenital malformation now stands as a model for genetic disorders with complex patterns of inheritance.
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            Radiology on CD.

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              Pocket radiologist pediatric.

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Journal
                cir
                Revista Cubana de Cirugía
                Rev Cubana Cir
                Editorial Ciencias Médicas (Ciudad de la Habana )
                1561-2945
                September 2009
                : 48
                : 3
                : 0
                Affiliations
                [1 ] HDCQ J.R. López Tabranes Cuba
                [2 ] HPD Eliseo Noel Caamaño Cuba
                Article
                S0034-74932009000300007
                2a4214d9-8761-412f-8918-0f6af33579c6

                http://creativecommons.org/licenses/by/4.0/

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                SciELO Cuba

                Self URI (journal page): http://scielo.sld.cu/scielo.php?script=sci_serial&pid=0034-7493&lng=en
                Categories
                SURGERY

                Surgery
                Aganglionic megacolon,aganglionosis,Hirschsprung's disease,Megacolon agangliónico,enfermedad de Hirschsprung

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