Megacolon is a condition in which part or the whole of the intestine is hypertrophied, dilated and filled with faeces. This absence of ganglia at the distal end of the colon results in functional. Short segment, long segment, total colonic and panintestinal forms as defined above. Hirschsprung disease is a neonatal discovery in almost all cases, and the association of hirschsprung disease in adults with symptomatic intestinal malrotation is unusual. This combination delays diagnosis and can lead to mistake in surgical strategy. Hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. These cells are responsible for the normal wavelike motion of the bowel peristalsis. A 43yearold patient with a history of colectomy for colonic inertia and megadolichocolon was admitted to the carcassonne hospital emergency. 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. Hirschsprung s disease in a family with multiple endocrine neoplasia type 2. Review the developmental etiology and pathogenesis of hirschsprung disease.
Les matieres fecales sont normalement propulsees au travers du colon par des muscles. Hirschsprung disease in an adult with intestinal malrotation. 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 hd or hscr is a birth defect in which nerves are missing from parts of the intestine. Advances in instrumentation and technique now make laparoscopic correction of some congenital anomalies possible. Read more about symptoms, diagnosis, treatment, complications, causes and prognosis. Hirschsprungs disease also called intestinal aganglionosis. This condition occurs when the nerves in the intestine enteric nerves do not form properly during development before birth embryonic development. It is named after the danish physician harold hirschsprung. Plain abdominal radiograph showing a transition zone partz at the rectosigmoid. We report on a 2yearold boy with biopsyproven hirschsprung s disease successfully treated by a laparoscopic duhamel pullthrough procedure. It occurs 5 times more often in males than in females.
Us navy 080607n0209m005 threeyearold jose angelo dacuycuy eats his first meal after having surgery to correct his hirschsprung s disease. Hirschsprung s disease congenital megacolon, aganglionic megacolon is characterized by an absence of ganglion cells in the colon resulting in a functional obstruction. Hirschsprung disease is sometimes linked to other inherited or congenital conditions, such as down syndrome. When they are missing the stool stops and an obstruction occurs. Hirschsprungs disease symptoms and causes mayo clinic. He was interested in rare diseases affecting the gut throughout his life, and one such, atresia of. Hirschsprung disease aganglionosis, colonic colonic aganglionosis megacolon, congenital aganglionosis, rectosigmoid colon aganglionosis, total colonic congenital megacolon. Normally, the bowel contains many nerve cells all along its length that control how the bowel works. This developmental disorder is a neurocristopathy and is characterised by the absence of the enteric. Their is congenital absence of parasympathetic ganglion cells normally found in the intermuscular and submucosal nerve plexus of the intestinal wall.
This condition is usually identified in the first two months of life, although less. Symptoms usually become apparent in the first two months of life. Complications may include enterocolitis, megacolon, bowel. Please use one of the following formats to cite this article in your essay, paper or report. Your surgeon, pediatrician, or family physician may refer you to a pediatric gastroenterologist, especially if there are chronic problems. Congenitalmegacolon observation hv frederick ruysch. Plain abdominal radiograph showing a partz at the midsigmoid.
Hirschsprung disease hscr, aganglionic megacolon is the main genetic cause of functional intestinal obstruction with an incidence of 15000 live births. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. Print pdf you need to be logged in to start a new thread. Absence of enteric ganglia causes a loss of intrinsic excitatory and inhibitory innervation.
The history of hirschsprungs disease congenital megacolon is a fascinating progression from early, astute observations of an uncommon condition to the presentday more detailed understanding. Hirschsprungs disease associated with a deletion of. Le segment atteint est rectosigmoidien dans 80 % des cas, ou plus etendu. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. The technique and its potential role in the treatment of hirschsprung s disease are described. Verdy m, weber am, roy cc, morin cl, cadotte m, brochu p. Hirschsprung disease causes about 25% of all newborn intestinal blockages. Aug 01, 2018 hirschsprung disease is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Levard g, boige n, vitoux c, aigrain y, boureau m, navarro j. He passed his acceptance exam for university in 1848 and passed the staatsexamen in 1855. Introduction dilatation colique en amont dune anomalie congenitale des plexus nerveux intra. Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a childs bowel. The condition is present at birth congenital as a result of missing nerve cells in the muscles of the babys colon. Hirschsprung disease hd is a motor disorder of the gut, which is caused by the failure of neural crest cells precursors of enteric ganglion cells to migrate completely during intestinal development during fetal life.
The congenital defect where nerve cells at the end of the bowel are missing is known as hirschsprungs disease hd. Us navy 080607n0209m005 threeyearold jose angelo dacuycuy eats his first meal after having surgery to correct his hirschsprungs disease. The resulting aganglionic segment of the colon fails to relax, causing a functional obstruction. Classic hirschsprung disease invariably includes aganglionosis of the distal rectum and variable length of contiguous bowel. 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. Ces muscles sont controles par des neurones speciaux appeles des cellules ganglionnaires. When the bowel is missing nerve cells, it does not work well. Laparoscopic duhamel pullthrough procedure for hirschsprungs. Hirschsprungs disease in a family with multiple endocrine neoplasia type 2. Hirschsprung disease, associated syndromes, and genetics.
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