Hirschsprung's disease

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Hirschsprung's disease

[′hərsh‚pru̇ŋz di‚zēz]
(medicine)
A disease caused by absence of the myenteric ganglion cells in a segment of rectum or distal colon, resulting in spasm of the affected part and dilation of the bowel proximal to the defect.
References in periodicals archive ?
Comparison of Histamine-induced Gut Contractility between Hirschsprung and non-Hirschsprung's Cases
Open versus transanal pull-through for Hirschsprung disease: A systematic review of long-term outcome.
The definitive finding that defines Hirschsprung disease is absence of ganglion cells in the submucosal and myenteric plexuses in an adequate biopsy specimen of the rectum located more than 2 cm above the pectinate line.
Transanal endorectal pull-through for Hirschsprung disease: technique, controversies, pearls, pitfalls, and an organized approach to the management of postoperative obstructive symptoms.
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).
Causas de pseudo-Bartter Neonato con restriccion del crecimiento intrauterino Prematuros de madres con trastornos hidroelectroliticos periparto Abuso de laxantes Diarrea aclorhidrica congenita de la infancia Uso excesivo de diureticos de asa o tiazidicos Enfermedad de Hirschsprung Cualquier causa de hiperemesis aguda grave o cronica: hyperplasia pilorica, obstruccion intestinal, malrotacion intestinal, anorexia nerviosa Enfermedad poliquistica renal Uso de gentamicina Fibrosis quistica Esta tabla se construyo con base en las referencias 22-26
El SGS presenta un mecanismo de herencia autosomico recesivo por lo que es mas frecuente en familias consanguineas, los hallazgos evidenciados en estos pacientes son: microcefalia asociada a enfermedad de Hirschsprung y retardo mental, sin embargo su fenotipo facial difiere al observado en los pacientes con SMW; (1,8).
Waardenburg-Shah syndrome (WS4; MIM277580) is one of the four types of Waardenburg Syndrome that is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss along with dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects (Pingault et al.
Charm stands for Children With Hirschsprung And Anorectal Malformations.
Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung Disease in infancy and childhood.
Anorectal manometry was performed to exclude Hirschsprung disease.
Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease.