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The bowel is then flushed daily. If the affected portion of the lower intestine is restricted to the lower portion of the rectum, other surgical procedures may be performed, such as a posterior rectal myectomy. According to a study conducted in Maryland , Hirschsprung's disease appears in The first report of Hirschsprung's disease dates to , [36] when it was described by Dutch anatomist Frederik Ruysch.

Holschneider, Alexander Matthias

The first publication on an important genetic discovery of the disease was from Martucciello Giuseppe et al. The authors described a case of a patient with total colonic aganglionosis associated with a 46, XX, del 10 q The usual treatment is "pull-through" surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells.

This research also suggested that a single gene was responsible for the disorder. However, the researchers were unable to isolate it.

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From Wikipedia, the free encyclopedia. Hirschsprung's disease Other names Aganglionic megacolon, congenital megacolon, congenital intestinal aganglionosis [1] Histopathology of Hirschsprung disease showing abnormal acetylcholine esterase AchE -positive nerve fibers brown in the mucosa. Specialty Medical genetics Symptoms Constipation , vomiting , abdominal pain , diarrhea , slow growth [1] Complications Enterocolitis , megacolon , bowel obstruction , intestinal perforation [1] [2] Usual onset First 2 months of life [1] Types Short-segment, long-segment [1] Causes Genetic [1] Risk factors Family history [1] Diagnostic method Based on symptoms, biopsy [3] Differential diagnosis Chronic intestinal pseudo-obstruction , meconium ileus [2] Treatment Surgery [2] Frequency 1 in 5, newborns [1] Hirschsprung's disease HD or HSCR is a birth defect in which nerves are missing from parts of the intestine.

Genetics Home Reference. August Retrieved 14 December Hirschsprung's Disease and Allied Disorders. Goldman's Cecil Medicine 24th ed.

Philadelphia: Elsevier Saunders. American Family Physician.

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Journal of Pediatric Surgery. Bibcode : PNAS.. PLoS Genet. J Pediatr Surg. Human Mutation. American Journal of Medical Genetics. European Journal of Human Genetics. Clinics in Perinatology. Archived from the original on New England Journal of Medicine. Anal and rectal diseases explained. Retrieved American Pediatric Surgical Association. Retrieved 11 June Allan Walker Pediatric gastrointestinal disease: pathophysiology, diagnosis, management. Koch Colonic diseases. Humana Press.

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Infections in Urology. Int J Epidemiol. Fecal and Urinary Diversion Management. Berlin: Springer.

Am Fam Physician. Pediatric Surgery International. Bibcode : Natur. ICD - 10 : Q Congenital malformations and deformations of digestive system Q35—Q45 , — Pyloric stenosis Hiatus hernia. Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst.

Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia. Annular pancreas Accessory pancreas Johanson—Blizzard syndrome Pancreas divisum. Choledochal cysts Caroli disease Biliary atresia. Alagille syndrome Polycystic liver disease.

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Particular Forms of Neuronal Intestinal Malformations Enterocolitis Complicating Hirschsprung's Disease Megacolon in Adults Megacysti - Microcolon - Intestinal Hypoperistalsis Syndrome Intestinal Obstruction Mimicking Hirschsprung's Disease Diagnosis of Hirschsprung's Disease and Allied Disorders Radiological Diagnosis Functional Diagnosis Histological Diagnosis and Differential Diagnosis Immunohistochemical Studies Electron Microscopical Studies of Hirschsprung's Disease Swenson's Procedure Experience with Swenson's Operation Laparoscopic Pull-Through for Hirschsprung's Disease Experience with Duhamel's Procedure Experience with Long Duhamel's Procedure Rehbein's Procedure Deep Anterior Resection Experience with Rehbein's Technique Complications of Hirschsprung's Disease and Allied Disorders Late Complications of Hirschsprung's Disease Review quote 'This is an excellent updating of the first edition.

It is a great single reference text of current information on Hirschsprung's disease. It will stand as the definitive text for the next quarter century. Arensman, Children's Memorial Hospital show more. Learn about new offers and get more deals by joining our newsletter.