a rare and frequently misdiagnosed cause of long-standing refractory constipation. In most cases, patients have a mild form of the disease and as a result go undiagnosed early in their lives. A mild form of the disease may occur because the proximal innervated colon is hypertrophied and thus compensates for the distal obstructed aganglionic rectum. These patients often try to relieve the consti...

BACKGROUND Hirschsprung's disease is a congenital disorder which is rare in adulthood. In typical cases the aganglionosis involves mainly the rectum or rectosigmoid colon and the lesion starts from the anal valve. Zonal segmental aganglionosis is a very rare type even in children. PATIENT A 54 year old women with zonal segmental aganglionosis had an aganglionic segment 18 cm in length located...

The English spotting coat color locus in rabbits, also known as Dominant white spotting locus, is determined by an incompletely dominant allele (En). Rabbits homozygous for the recessive wild-type allele (en/en) are self-colored, heterozygous En/en rabbits are normally spotted, and homozygous En/En animals are almost completely white. Compared to vital en/en and En/en rabbits, En/En animals are...

The enteric nervous system (ENS) develops from neural crest cells (NCCs) that enter the foregut and hindgut to become enteric neural-crest-derived cells (ENCCs). When these cells of neural crest origin fail to colonize the terminal hindgut, this aganglionic region becomes non-functional and results in a condition in humans known as Hirschsprung's disease (HSCR). One of the genes associated with...

Since 1948, a total of 89 patients with an aganglionic megacolon have been treated at the Children's Hospital of the Helsinki University Clinic. There were 68 cases of Hirschsprung's disease, and in 21 cases the anomaly had developed with anal atresia. In nine cases Hirschsprung's disease caused death in early infancy. Operations were performed in 59 cases. Three different types of operation we...

BACKGROUND The primary pathology of Hirschsprung's disease (HD) is a congenital absence of ganglion cells in the caudal most gut. The spastic aganglionic bowel is often innervated by a network of hypertrophied nerve fibres. Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome. AIMS To understand the molecular basis for the path...

Spencer NJ, Bayguinov P, Hennig GW, Park KJ, Lee H-T, Sanders KM, Smith TK. Activation of neural circuitry and Ca waves in longitudinal and circular muscle during CMMCs and the consequences of rectal aganglionosis in mice. Am J Physiol Gastrointest Liver Physiol 292: G546–G555, 2007. First published October 12, 2006; doi:10.1152/ajpgi.00352.2006.—In mammals that develop rectal aganglionosis, th...

Mast cells (MC) are source of many biological active compounds like cytokines, arachidonic acid derivates, proteoglicanes, prostaglandins, proteases, free oxygen radials, NGF, PAF and many more. The role of MC in pathogenesis of Hirschsprung's disease (HD) is not clear. Substances produced by MC may exert an important effect on embryology, growth, differentiation and regeneration of intestinal ...

In mammals that develop rectal aganglionosis, the aganglionic segment still exhibits spontaneous phasic contractions that contribute to dysmotility and pseudoobstruction in this region. However, almost nothing is known about the mechanisms that generate these myogenic contractions or the effects of aganglionosis on the generation of Ca(2+) waves that underlie contractions of the longitudinal mu...