Hirschsprung disease aganglionosis, colonic colonic aganglionosis megacolon, congenital aganglionosis, rectosigmoid colon aganglionosis, total colonic congenital megacolon. Harold hirschsprung, who first gave the description of the disease. Theyll give your presentations a professional, memorable appearance the kind of sophisticated look that todays audiences expect. Gasera,b 4 a department of psychiatry, jena university hospital, jena, germany 5 b department of neurology, jena university hospital, jena, germany 6 7 article info. The affected segment is of small caliber with proximal dilatation. However, postoperative bowel functioning is not always satisfactory. Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric nervous system. Dec 30, 2019 hirschsprung disease, a common cause of neonatal and infantile large gut obstruction, was first described in 1886 by harold hirschsprung as a cause of constipation in early infancy. Short segment, long segment, total colonic and panintestinal forms as defined above.
Plain abdominal radiograph showing a partz at the midsigmoid. Llegan al colon proximal a las 8 sg y al recto a las 12 sg. This disease is characterized by a variable extent of contiguous aganglionosis extending from the anorectum proximally. Proposed recommendations and guidelines for diagnosis of hirschsprung s disease in mucosal and submucosal. Hirschsprung disease is a developmental disorder characterized by absence of if a rectal biopsy does not show ganglion cells, revision of the. Hirschsprung s disease is a condition characterized by the absence of ganglion cells in avariable segment of the large intestine, mainly producing the symptom of constipation and being usually. Pdf hirschsprungs disease in adolescents and adults. The disease rarely presents as an acute intestinal obstruction. Ct scan was performed, showing signs of peritonitis caused by dehiscence of ileumrectal suture. Some infants with hirschsprungs disease hd do not pass meconiumthe dark poo normally passed in the first two days of life. Hirschsprungs disease has many modes of presentation varying from. New mutations associated with hirschsprung disease. Hirschsprungs disease was named after the name of dr.
It usually presents in the newborn period as intestinal obstruction or in older children as constipation and abdominal distention. Plain abdominal radiograph showing a transition zone partz at the rectosigmoid. Normalmente, las heces fecales son empujadas a traves del colon por. Classic hirschsprung disease invariably includes aganglionosis of the distal rectum and variable length of contiguous bowel. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. It is caused by trypanosoma cruzi 1 that is transmitted by bloodsucking insects, blood transfusions or fetal transmission 1,2.
Discussion megacolon is an abnormal dilation of the colon that can be caused by several factors. Other symptoms include a distended swollen abdomen tummy and vomiting bile green fluid. Hirschsprung s disease is a congenital disorder which is rare in adulthood. However, postoperative hirschspruung functioning is not always satisfactory.
In typical cases the aganglionosis involves mainly the rectum or rectosigmoid colon and the lesion starts from the anal. In hirschsprung disease, there are no ganglion cells in the wall of the affected intestine. Introduction hirschsprung s disease hd is a malformation of the large intestine characterized by the absence of ganglion cells in submucosal and myenteric plexus, which produces a functional obstruction and dilatation proximal to the affected segment 1. Moreover, they must sign a model release that should be sent. Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. The main symptom of hirschsprungs disease is constipation, which cannot be treated using laxatives or softeners. Please use one of the following formats to cite this article in your essay, paper or report. He thought that the colonic dilatation was the cause of the problem, although the actual pathology was in the distal contracted segment.
Our objective was to show the benefits of this antibody in diagnosis of hirschsprung s disease in biopsy specimens. Familial dysautonomia is caused by mutations of the ikap gene. Worlds best powerpoint templates crystalgraphics offers more powerpoint templates than anyone else in the world, with over 4 million to choose from. Hirschsprung disease hscr, or congenital intestinal aganglionosis, is a birth defect characterized. Hirschsprung disease enferjedad hypoganglionosis in adults. Absence of enteric ganglia causes a loss of intrinsic excitatory and inhibitory innervation. Hirschsprung s disease affects about 1 in 5, live births and usually presents in neonatal period. Winner of the standing ovation award for best powerpoint templates from presentations magazine. Hirschsprung disease hscr, or congenital intestinal aganglionosis, is a birth defect characterized by complete absence of neuronal ganglion.
188 490 537 78 511 277 755 288 478 115 900 118 756 605 465 1414 738 1484 673 1222 1455 440 528 475 962 305 434 26 196 1143 280 1253 987 113 1334 905 1034 635 1104 1334 65 465 989 373 1293 1338 915