Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mu...

Hirschsprung disease and Waardenburg syndrome are human genetic diseases characterized by distinct neural crest defects. Patients with Hirschsprung disease suffer from gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte function, deafness, and craniofacial abnormalities. Mutations responsible for Hirschsprung disease and Waardenburg syndrome have b...

BACKGROUND Hirschsprung disease is a complex genetic disorder of the enteric nervous system (ENS), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. The definitive diagnosis of Hirschsprung disease relies on histologic and/or histochemical staining of sections from suction rectal biopsies. Calretinin immun...

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM 235730). Mutation scanni...

BACKGROUND HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) is an autosomal dominant condition, defined by the triad hypoparathyroidism, renal dysplasia and hearing loss. Hirschsprung (HSCR) disease is a variable congenital absence of ganglion cells of the enteric nervous system resulting in degrees of functional bowel obstruction. Rarer chromosomal anomalies are repo...

BACKGROUND Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen. OUTCOME Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities co...

the term ultra short is not clearly defined in ultrashort-segment hirschsprung’s disease. the limited extent of the ultrashort-segment hirschsprung’s disease allows for treatment with extended sphincteromyectomy. in anal sphincter achalasia, anal sphincter dilatation under general anesthesia may be sufficient to treat the condition; in cases with persistent constipation, sphincteromyectomy is i...

BACKGROUND/PURPOSE Most surgeons recommend daily dilatation after surgery for Hirschsprung disease and anorectal malformations. Our goal was to critically evaluate the potential risks and benefits of this practice. METHODS A retrospective chart review was carried out of all children undergoing repair of Hirschsprung disease or anorectal malformation over 5 years. Patients with long segment Hi...

irschsprung disease is a congenital disorder in Hwhich neurons are missing from the distal bowel. As the enteric nervous system (ENS) is essential for propulsive gut motility, affected infants have intractable constipation. The current treatment for Hirschsprung disease involves surgical removal of the distal aganglionic region and anastomosis of the ganglionic bowel to the anus. Despite this, ...

Background: Hirschsprung disease is a complex genetic disorder of the enteric nervous system (ENS), often called congenital aganglionic megacolon and characterized by the absence of enteric neurons along a variable length of the intestine. The definitive diagnosis of Hirschsprung disease relies on histologic and/or histochemical staining of sections fr...