Total intestinal aganglionosis. An autosomal recessive condition?
نویسندگان
چکیده
منابع مشابه
Familial Near-Total Intestinal Aganglionosis
Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.
متن کاملRare Association of Extended Total Colonic Aganglionosis and Intestinal Malrotation
Total colonic aganglionosis occurring together with malrotation is a rare occurrence and may pose diagnostic and management dilemmas for the paediatric surgeon. We report a case of a neonate that presented with extended total colonic aganglionosis and malrotation, along with a spectrum of central nervous system and renal abnormalities. The clinical and radiological features and potential diagno...
متن کاملMegacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.
We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases, together with three other published reports of affected sibs, confirm the autosomal recessive inheritance of the syndrome.
متن کاملNew perspective for the management of near-total or total intestinal aganglionosis in infants.
BACKGROUND/PURPOSE Extensive intestinal aganglionosis is rare. The diagnosis and treatment are known to be difficult and it had been considered to be fatal. The aim of this study was to review our experience with children with extensive intestinal aganglionosis. METHODS Retrospective analysis was conducted in patients referred to the intestinal transplantation unit since 1993. Presentation an...
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Cultured fibroblasts from a 46,XY male with an atypical form of mucolipidosis 11 (1-cell disease) had two distinct phenotypes. One population of these fibroblasts had the morphological and biochemical features characteristic of I-cell disease, while the remaining cells were indistinguishable from normal fibroblasts. Direct evidence that the patient was a mosaic, having two cell populations, was...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1977
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.52.11.898