Hirschsprung disease


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con·gen·i·tal meg·a·co·lon

, megacolon congenitum
congenital dilation and hypertrophy of the colon due to absence (aganglionosis) or marked reduction (hypoganglionosis) in the number of ganglion cells of the myenteric plexus of the rectum and a varying but continuous length of gut above the rectum; seen in humans and dogs.

Hirschsprung disease

A condition of infant onset characterised by the absence of myenteric nerves in the distal colon, extending proximally from the anus for a variable distance. It affects an estimated 1:5000 live births, and is more common in males (male:female ratio, 4:1); up to 10% have Down syndrome. 

Clinical findings
Failure to pass meconium or stool in first 24 hours post-partum; abdominal distention; vomiting; constipation at birth. Peristalsis is absent in aganglionic segment, causing proximal pseudo-obstruction and gross dilatation, enterocolitis and perforation. In older children, Hirschsprung disease is characterised by chronic constipation, abdominal distention and stunted growth.

Diagnosis
By rectal suction biopsy; must include submucosa, taken at least 2 cm above pectinate line.

Management
Resection of aganglionic segment, guided by intraoperative frozen sections from myenteric plexus.

con·gen·i·tal meg·a·co·lon

, megacolon congenitum (kŏn-jen'i-tăl meg'ă-kō-lŏn, kon-jen'i-tŭm)
Congenital dilation and hypertrophy of the colon due to absence (aganglionosis) or marked reduction (hypoganglionosis) in the number of ganglion cells of the myenteric plexus of the rectum and a varying but continuous length of colon above the rectum.
Synonym(s): Hirschsprung disease.

Hirschsprung disease

Hirschsprung disease is a congenital abnormality (birth defect) of the bowel in which there is absence of the ganglia (nerves) in the wall of the bowel. Nerves are missing starting at the anus and extending a variable distance up the bowel. This results in megacolon (massive enlargement of the bowel) above the point where the nerves are missing. (The nerves are needed to assist in the natural movement of the muscles in the lining of the bowels that move bowel contents through.)
Mentioned in: Ostomy

Hirschsprung,

Harald, Danish physician, 1830-1916.
Hirschsprung disease - congenital dilation and hypertrophy of the colon. Synonym(s): congenital megacolon
References in periodicals archive ?
Familial form of Hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.
Intestinal neuronal dysplasia is a possible cause of persistent bowel symptoms after pull-through operation for Hirschsprung disease. J Pediatr Surg.
Features of changes in colon microbiocenosis, hemostasis and immunity system in children with Hirschsprung disease. Russian Pediatric J.
Contrast enema revealed important gas distension of the colon, with a narrowing of the distal colon at less than half the normal diameter, with proximal dilation, the presence of a transition zone between sigmoid and descendent colon; important reduction of the rectum caliber, with filamentous ending, typical aspect for the Hirschsprung disease, with rectosigmoid aganglionosis (Figure 1).
A modified technique for the diagnosis of Hirschsprung disease from rectal biopsies.
Hirschsprung disease in MEN2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.
Testicular torsion, incarcerated hernia, intussusception, Hirschsprung disease, appendici volvulus, bowel perforation.
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease. Hum Mutat 1997;9:97-109.
The results of the October 2001 review indicated "no evidence of Hirschsprung disease." Consequently, Caitlin's parents, Brent and Traci Erickson, brought suit, individually and on behalf of Caitlin, against Drs.
How useful is the barium enema in the diagnosis of infantile Hirschsprung disease? Am J Dis Child 1986; 140: 881-884.
He was diagnosed with Hirschsprung Disease by doctors who said he had a blockage in his large intestine which had caused an infection.
Sometimes, difficulties with bowel movements are due to a single cause, including conditions such: as Hirschsprung disease, tethered spinal cord, thyroid disease, a malformed, misplaced, or otherwise obstructed anus; a wide variety of medications; toxins such as lead; and dietary allergies, in particular to cow's milk.