Hirschsprung disease

Description

Hirschsprung disease is a developmental disorder characterized by the absence of ganglia (aganglionosis) in the distal colon, resulting in functional obstruction.

Presentation
  • Typically presents within the first 28 days of life, with delayed passage of meconium and abdominal distension
  • More common in males
  • May present in childhood with refractory constipation and failure to thrive
  • Can lead to enterocolitis – the most serious complication, with high morbidity and mortality
  • Increased incidence in patients with Down’s syndrome and other chromosomal abnormalities
Alternative names
  • Congenital idiopathic dilatation of the colon

History

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]

1825Caleb Hillier Parry (1755 – 1822) 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; II: 380-386].

1886Harald Hirschsprung (1830 – 1916) 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 – Lennander first suggested the colonic dilatation of Hirschprung disease being of neurogenic origin [Journal of Internal Medicine 1900]

1901 – Tittel reported histological findings indicating aganglionosis of the colon with normal findings in the ileum. Similar 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.

1948 Orvar Swenson (1909 – 2012) and Neuhasuer used barium enemas to demonstrate distal narrowing of the colon extending to the rectum in Hirschprungs patients. They also used motility studies to find absence of peristalsis in the distal, aganglionic colon. This supported previous findings and ultimately led to development of potentially curative treatment.

1990-2000s– More recent research into the etiology has provided a better understanding of the molecular genetic mechanisms affecting normal neural colonization of the distal bowel during foetal development. Hirschprungs co-exists with ileal atresia, ano-rectal malformations, and achalasia. Its association with a number of neurocristopathies indicates the involvement of underlying genetic disturbances, as do identification of familial cases.

Specific mutations identified include those of the RET protooncogene. Excess deposition of collagen VI has also been suggested as a mechanism preventing normal neural migration to the distal bowel in embryogenesis [J Clin Invest 2015]. Research continues into this seemingly genetically and physiologically complex disease.


Diagnosis and management

Barium enema

  • 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 Hirschsprung patient

Rectal biopsy

  • 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 was introduced and continues to be used in modern practice

Early treatments

  • Early on in the history of Hirschsprung 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

  • Orvar Swenson and Alexander Bill described the first definitive, successful procedure for Hirschsprung 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.

Associated Persons


References


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eponym

the person behind the name

Dr Chloe Roy MBChB, BMed Sci (hons). Surgeon in the making | LinkedIn |

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