Hirschsprung disease is a developmental disorder characterized by the absence of ganglia (aganglionosis) in the distal colon, resulting in functional obstruction
1691 – Frederick Ruysch – a Dutch professor of anatomy, botany and surgery – probably described the condition [Boer, 2017]. Ruysch described the demise of a 5 year old girl with abdominal pain who did not respond to the ‘usual treatment of the day to relieve pain, pass wind and kill worms’. Except for enormous dilatation of the colon, the autopsy findings were not clearly described. Although this may have represented a case of Hirschsprung’s disease there was inadequate evidence to be sure of the actual diagnosis [Leenders, 1970]
1800 – Domenico Battini (Italy) described a child whom he followed for 10 years with severe constipation who eventually died. He demonstrated severe colonic dilatation at autopsy consistent with, but not pathognomonic of, megacolon [Fiori, 1998]
1825 – Parry described idiopathic dilatation of the colon in a male adult with chronic digestive disturbances. Autopsy revealed an enormously distended colon with no evidence of obstruction in the alimentary canal [Parry CH, 1825 pp380-386].
1886 – Harald Hirschsprung presented detailed findings to the Berlin Pediatric Society regarding two children with severe constipation, due to dilation and hypertrophy of the colon. Both children died. Hirschsprung offered no specific treatment recommendation nor did he contribute in any other way towards solving the mystery around the disease that was named after him
1898- 1900 – Multiple further descriptions of infants with idiopathic colonic dilatation were recorded. Treves attributed this to obstruction by a congenital narrowing of the distal rectum; Fenwick reported the underlying problem to by anal sphincter spasm [Lancet 1898, BMJ 1900 ]
1900 – Lennader first suggested the colonic dilatation of Hirschprung disease being of neurogenic origin
1901 – Tittel reported histological findings indicating aganglionosis of the colon with normal findings in the ileumSimilar findings of aganglionosis in infants with idiopathic colonic dilatation were reported over the following 40 years, though this evidence was not yet accepted by some. It was not until the findings of Swenson and Neuhasuer in 1948 that the cause and potential for cure in patients with Hirschprung disease became clearer.
Diagnosis and management
- Swenson and Neuhauser (1948) established this as a useful diagnostic tool as it allowed identification of an area of spasm in the rectum or rectosigmoid colon which defined the area of obstruction in a Hirschprung patient
- Swenson reported a number of situations in which biopsy provided a more definitive diagnostic method, first with full-thickness rectal biopsy [N Engl J Med 1955]
- 1960 – Bodian; reported use of submucosal rectal biopsy
- 1964-1968; suction rectal biopsy introduced and continues to be used in modern practice
Early on in the history of Hirschprung disease, symptomatic management with enemas, laxatives, colonic irrigations and rectal tubes was used
During the early 1900’s various surgical techniques were reported, including resection of the affected bowel with colostomy formation, though often with poor outcomes
Management directed at the neurogenic origin of the condition included lumbar sympathectomy and spinal anaesthesia
- Swenson procedure 1947 – Ovar Swenson and Alexander Bill described the first definitive, successful procedure for Hirschprung disease. This involved resection of the rectum and rectosigmoid proximal to the point of obstruction identified on barium studies, with a coloanal anastomosis above the dentate line in order to preserve the sphincter. The procedure was developed following laboratory work on dogs. They described the procedure being carried out successfully in 3 children. [Surgery 1948]
- A number of surgeons made modifications to Swenson’s procedure aiming to reduce risk of injury to the sphincter, infection or delayed anastomosis. This involved variations in the distance of resection from the dentate line, preserving the sphincter.
- Congenital idiopathic dilatation of the colon
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- Hirschsprung H. Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons. [Constipation of newborns as a result of dilatation and hypertrophy of the colon] Jahrbuch für Kinderheilkunde und physische Erziehung (Berlin) 1888;27:1–7. [PMID 17208575]
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