Maladie de hirschsprung diagnostic pdf

A 43yearold patient with a history of colectomy for colonic inertia and megadolichocolon was admitted to the carcassonne hospital emergency. Three patients with hyperganglionosis are reported in whom an initial diagnosis of hirschsprungs disease was suspected. Hirschsprung disease is a neonatal discovery in almost all cases, and the association of hirschsprung disease in adults with symptomatic intestinal malrotation is unusual. A 43yearold patient with a history of colectomy for colonic inertia and megadolichocolon was admitted to the carcassonne hospital. In one patient there was a classic presentation with constipation, in another hirschsprung s disease coexisted, and in the third the initial inadequate suction rectal biopsy specimen was suggestive of hirschsprung s disease on acetylcholinesterase staining. In one patient there was a classic presentation with constipation, in another hirschsprungs disease coexisted, and in the third the initial inadequate suction rectal biopsy specimen was suggestive of hirschsprungs disease on acetylcholinesterase staining. Histopathological diagnosis and differential diagnosis of. Introduction hirschsprungs 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 disease should be considered in any newborn who fails to pass meconium within 2448 hours of birth. This combination delays diagnosis and can lead to mistake in surgical strategy. Diagnostic antenatal des malformations digestives emconsulte. Please use one of the following formats to cite this article in your essay, paper or report. Hirschsprung disease is a birth defect in which nerve cells are missing at the end of a childs bowel.

Normally, the bowel contains many nerve cells all along its length that control how the bowel works. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation. Most cases of hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease is sometimes linked to other inherited or congenital conditions, such as down syndrome. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth.

The full text of this article is available in pdf format. Summary hirschsprungs disease 15000 live births is defined by the congenital absence of neuronal cells in the nervous plexuses in the distal part of the digestive tract. Hirschsprung disease causes about 25% of all newborn intestinal blockages. Symptoms usually become apparent in the first two months of life. The condition is present at birth congenital as a result of missing nerve cells in the muscles of the babys colon. When the bowel is missing nerve cells, it does not work well. Aug 01, 2018 most cases of hirschsprung disease are diagnosed in the newborn period. Although contrast enema is useful in establishing the diagnosis, fullthickness rectal biopsy remains the criterion standard.

A 20year experience, journal of pediatric surgery on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. Three patients with hyperganglionosis are reported in whom an initial diagnosis of hirschsprung s disease was suspected. Hirschsprung s disease hd or hscr is a birth defect in which nerves are missing from parts of the intestine. Congenital malformations and seizures require early clinical investigation with intervention of several specialists including neonatologists and. Hirschsprungs disease hd or hscr is a birth defect in which nerves are missing from parts of the intestine. Diagnostic methods distinct facies is particularly important for the initial clinical diagnosis and provides the hallmark warranting zeb2 mutational analysis in all cases, even in the absence of hscr. Hirschsprungs disease symptoms and causes mayo clinic.