Seminars in Colon & Rectal Surgery
Volume 17, Issue 1 , Pages 10-19 , March 2006

The History of Hirschsprung’s Disease: Then and Now

  • Peter T. Masiakos, MS, MD

      Affiliations

    • Division of Pediatric Surgery, Massachusetts General Hospital, Boston, MA, and Harvard Medical School, Boston, MA.
    • Corresponding Author InformationAddress reprint requests to: Peter T. Masiakos, MD, Division of Pediatric Surgery, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114.
  • ,
  • Sigmund H. Ein, BA, MDCM, FRCS(C), FACS, FAAP

      Affiliations

    • Division of General Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada, and Department of Surgery, Faculty of Medicine, University of Toronto, Ontario, Canada.

References 

  1. Holschneider A , Ure BM . Hirschsprung’s disease . In:  Ashcraft KW editors. Pediatric Surgery . (ed 3). Philadelphia: Saunders; 2000;p. 453–472 chap. 34
  2. Mya G . Due osservazioni di dilatazione ed impertrofia congenita del colon . Sperimentale . 1894;48:215
  3. Treves F . Idiopathic dilatation of the colon . Lancet . 1898;1:276–279
  4. Fenwick WS . Hypertrophy and dilatation of the colon in infancy . BMJ . 1900;2:564–567
  5. Sieber WK . Hirschsprungs Disease . In:  Welch KJ ,  Randolph JG ,  Ravitch MM , et al. editor. Pediatric Surgery . (ed 4). Chicago, IL: YearBook; 1986;p. 995–1020 Chap. 106
  6. Cass D . Historical aspects of pediatric surgery . In:  Rickham PP editors. Progress in Pediatric Surgery . vol 20: Berlin: Springer-Verlag; 1986;p. 199–214
  7. Ehrenpreis T . In: Hirschsprung’s Disease . Chicago, IL: YearBook Medical; 1970;p. 13–25
  8. Parry CH . Singular and fatal accumulation of faeces . In:  Parry CH editors. Collections From the Unpublished Medical Writings of the Late C.H. Parry . vol 2: London: Underwoods; 1825;p. 380
  9. Touloukian RJ . Pediatric surgery between 1860 and 1900 . J Pediatr Surg . 1995;30:911–916
  10. Hirschsprung H . Den medfordte tillerkning of spieseroret . Med Chirurg Rev . 1861;30:437
  11. Hirschsprung H . Et tilfaelde af subakut tarminvagination . Hosp Tilende J . 1876;321–327
  12. Jay V . Legacy of Harald Hirschsprung . Pediatr Dev Pathol . 2001;4:203–204
  13. Hirschsprung H . Stuhlträgheit neugeborener in folge von dilatation und hypertrophie des colons . Jahrb Kinderh . 1887;27:1–7
  14. Hirschsprung H . Falle von angeborener pylorysstanose, beobachtet beisaulingen . Jahrb Kinderh . 1888;27:61
  15. Osler W . Cases of dilatation of the colon in young children . Johns Hopkins Hosp Bull . 1893;30:41–43
  16. Marfan A . De la constipation des nourrissons et en particular de la constipation d’origine congénitale . Ren Mens Mal De Lent . 1895;13:153–157
  17. Bayliss WM , Starling EH . The movements and innervation of the large intestine . J Physiol . 1900;26:107–118
  18. Tittel K . Über eine angeborener mibbildung des dickdarmes . Wien Klin Wochenschr . 1901;14:903–907
  19. Finney J . Congenital idiopathic dilatation of the colon . Surg Gynecol Obstet . 1908;6:624–643
  20. Hirschsprung H: Dilatation congénitale du colon, in Grancher, Comby (eds): Traité Des Maladies de L’enfance (ed 2). Paris, 1904
  21. Kredel L . Über die angeborener dilatation und hypertrophie des dickdarmes . Klin Med . 1904;53:9
  22. Hawkins HP . Remarks on idiopathic dilatation of the colon . BMJ . 1907;1:477–483
  23. Wilms M . Dauerspasmus an pylorus, cardia, sphincter der blasé und des mastdarmes . Dtsch Z Chir . 1918;144:68
  24. Dalla Valle A . Richirche isto ogiche su di un caso di megacolon congenito . Pediatria . 1920;28:740–752
  25. Wade RB , Royle ND . The operative treatment of Hirschsprung’s disease (a new method with explanation of technique and results of operation) . Med J Aust . 1927;1:137–139
  26. Martin E , Burden VG . The surgical significance of the rectosigmoid sphincter . Ann Surg . 1927;86:86–91
  27. Ask-Upmark E . Studien über megacolon . Beitr Z Klin Chir . 1930;1:267
  28. Adamson WAD , Aird I . Megacolon (evidence in favor of a neurogenic origin) . Br J Surg . 1932;20:220–233
  29. Ross VP . The results of sympathectomy . Br J Surg . 1935;23:433–443
  30. Robertson HE , Kernohan JVW . The myenteric plexus in congenital megacolon . Proc Staff Meet Mayo Clinic . 1938;13:123–125
  31. Tiffin ME , Chandler LR , Faber HK . Localized absence of ganglionic cells of the myenteric plexus in congenital megacolon . Am J Dis Child . 1940;59:1071–1082
  32. Whitehouse F , Bargan JA , Dixon CF . Congenital megacolon (favourable end-results of treatment by resection) . Gastroenterology . 1943;1:922–937
  33. Grimson KS , Vandergrift L , Datz HM . Surgery in obstinate megacolon (one stage resection and ileosigmoidostomy) . Surg Gynecol Obst . 1945;80:164–173
  34. Ehrenpreis T . Megacolon in the newborn (a clinical and roentgenological study with special regard to the pathogenesis) . Acta Chir Scand . 1946;94:112–116
  35. Swenson O . Early history of the therapy of Hirschsprung’s disease (facts and personal observations over 50 years) . J Pediatr Surg . 1996;31:1003–1008
  36. Teitelbaum DH , Coran AC , Weitzman JJ , et al.   Hirschsprung’s disease and related neuromuscular disorders of the intestine . In:  O’Neill JA ,  Rowe MI ,  Grosfeld JL , et al. editor. Pediatric Surgery . (ed 5). St. Louis, MO: Mosby; 1998;p. 1381–1424
  37. Swenson O , Bill AH . Resection of rectum and rectosigmoid with preservation of sphincter for benign spastic lesions producing megacolon . Surgery . 1948;214:212–220
  38. Swenson O , Holschneider AM . Historical review . In:  Holschneider AM ,  Puri P editor. Hirschsprung’s Disease and Allied Disorders . (ed 2). Amsterdam: Harwood; 2000;p. 3–7
  39. Zuelzer WW , Wilson JL . Functional intestinal obstruction on congenital neurogenic basis in infancy . Am J Dis Child . 1948;75:40–64
  40. Whitehouse FR , Kernohan JW . Myenteric plexus in congenital megacolon . Arch Int Med . 1948;82:75–111
  41. Swenson O , Rheinlander HF , Diamond I . Hirschsprung’s disease: a new concept of the etiology. Operative results in thirty four patients . N Engl J Med . 1949;24:551–556
  42. Swenson O , Neuhauser EBD , Pickett LK . New concepts of etiology, diagnosis and treatment of congenital megacolon (Hirschsprung’s disease) . Pediatrics . 1948;2:201–209
  43. Bodian M , Stephens FD , Ward BLH . Hirschsprung’s disease and idiopathic megacolon . Lancet . 1949;1:6–11
  44. Hiatt RB . The pathological physiology of congenital megacolon . Ann Surg . 1951;133:313–320
  45. State D . Surgical treatment for idiopathic congenital megacolon (Hirschsprung’s disease) . Surg Gynecol Obstet . 1952;9:201–212
  46. Swenson O , Fisher JH , MacMahon HE . Rectal biopsy as an aid in the diagnosis of Hirschsprung’s disease . N Engl J Med . 1955;253:632–635
  47. Duhamel B . Une nouvelle opération pour le megacôlon congénital (L’abaissement rétro-rectale et trans-anale du côlon, et son application possible au traitment de quelques autres malformatos) . Presse Med . 1956;64:2249–2250
  48. Rehbein F . Kinderch-irusgische Operationen . Stuttgart: Hippokrates; 1996;
  49. Grob M , Genton N , VonTobel V . Experiences with surgery of congenital megacolon and suggestion of a new surgical technique . Zentralb Chir . 1959;84:1781–1789
  50. Bodian M . Pathological aids in the diagnosis and management of Hirschsprung’s disease . In:  Dyke SC editors. Recent Advances in Clinical Pathology (Series 3) . London: Churchill; 1960;
  51. Grob M . Intestinal obstruction in the newborn infant . Arch Dis Child . 1960;35:40–50
  52. Rehbein F , Von S , Zimmer-Mann H . Result with abdominal resection in Hirschsprung’s disease . Arch Dis Child . 1960;35:29–37
  53. Shandling B . A new technique in the diagnosis of Hirschsprung’s disease . Can J Surg . 1961;4:298–305
  54. Swenson O . Partial internal sphincterectomy in the treatment of Hirschsprung’s disease . Ann Surg . 1964;160:540–550
  55. Soave F . Hirschsprung’s disease (a new surgical technique) . Arch Dis Child . 1964;39:116–124
  56. Soave F . A new original technique for treatment of Hirschsprung’s disease . Surgery . 1964;56:1007–1014
  57. Boley SJ . New modification of the surgical treatment of Hirschsprung’s disease . Surgery . 1964;56:1015–1017
  58. Dobbins WO , Bill AH . Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy . N Engl J Med . 1965;272:990–993
  59. Schnaufer L , Talbert JL , Haller JA , et al.   Differential sphincteric studies in the diagnosis of anorectal disorders of childhood . J Pediatr Surg . 1967;2:538–543
  60. Soper RT , Miller FE . Modification of Duhamel procedure (elimination of rectal pouch and colorectal septum) . J Pediatr Surg . 1968;3:376–385
  61. Steichen FM , Talbert JL , Ravitch MM . Primary side-to-side colorectal anastomosis in the Dunamel’s operation for Hirschsprung’s disease . Surgery . 1968;64:475–483
  62. Pagès R . Le rôle du sphincter interne . Ann Chir Infant . 1970;11:145–149
  63. Kasai M , Suzur H , Watanabe K . Rectal myotomy with colectomy (a new radical operation for Hirschsprung’s disease) . J Pediatr Surg . 1971;6:36–41
  64. Meier-Ruge W . Uberlein erkrank ungsbild des colon mit Hirschsprung symptomatik . Verh Dtsch Ges Pathol . 1971;55:506–510
  65. Kleinhaus S , Boley SJ , Sheran M , et al.   A survey of the members of The Surgical Section of the American Academy of Pediatrics . J Pediatr Surg . 1979;14:588–597
  66. Holschneider AM . Hirschsprung’s Disease . Stuttgart: Hippokrates; 1982;
  67. Webster W . Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon . J Embryol Exp Morphol . 1973;30:573–585
  68. Gaillard D , Birembaut P , Ploton D , et al.   Colonic nerve network demonstrated by quinacrine . Bull Assoc Anat . 1982;66:63–70
  69. Clavel C , Gaillard D , Lallemand A , et al.   Distribution of fibronectin and laminin during development of the human myenteric plexus and Hirschsprung disease . Gastroenterol Clin Biol: . 1988;12:193–197
  70. Martucciello G , Favre A , Takahashi M , et al.   Immunohistochemical localization of RET protein in Hirschsprung’s disease . J Pediatr Surg . 1995;30:433–436
  71. Fewtrell MS , Tam PK , Thomson AH , et al.   Hirschsprung’s disease associated with a deletion of chromosome 10 (q11.2q21.2) a further link with the neurochrisopathies? . J Med Genet . 1994;31:325–327
  72. Luo Y , Ceccherini I , Pasini B , et al.   Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease . Hum Mol Genet . 1993;2:1803–1808
  73. Perissat J , Collet D , Belliard R , et al.   Laparoscopic surgery of gallstones—report of treatment of 157 patients . Langenbecks Arch Chir Suppl II Verh Dtsch Ges Chir . 1990;1339–1350
  74. Georgeson KE , Cohen RD , Hebra A , et al.   Primary laparoscopic-assisted endorectal colon pull-through for Hirschsprung’s disease (a new gold standard) . Ann Surg . 1999;229:678–683
  75. Lane P . Association of megacolon with two recessive spotting genes in the mouse . J Hered . 1966;57:29–31
  76. Kunieda T , Kumagai T , Tsuji T , et al.   A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats . DNA Res . 1996;3:101–105
  77. Gariepy CE , Williams SC , Richardson JA , et al.   Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease . J Clin Invest . 1998;102:1092–1101
  78. McCabe L , Griffin LD , Kinzer A , et al.   Overo lethal white foal syndrome (equine model of aganglionic megacolon (Hirschsprung disease)) . Am J Med Genet . 1990;36:336–340
  79. Yang GC , Croaker D , Zhang AL , et al.   A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal shile foal syndrome (LWFS); a horse variant of Hirschsprung disease . Hum Mol Genet . 1998;7:1047–1052
  80. De la Torre-Mondragon L , Ortega-Selgado JA . Transanal endorectal pull-through for Hirschsprung disease . J Pediatr Surg . 1998;33:1283–1286
  81. Langer JC , Minkes RK , Mazziotti MV , et al.   Transanal one-stage Soave procedure for infants with Hirschsprung disease . J Pediatr Surg . 1999;34:148–152
  82. Langer JC , Durrant AC , De la Torre L , et al.   One-stage transanal Soave pull-through for Hirschsprung disease (a multicenter experience with 141 children) . Ann Surg . 2003;238:569–583
  83. Dasgupta R , Langer JC . Hirschsprung disease . Curr Probl Surg . 2004;41:942–988
  84. Angrist M , Bolk S , Halushka M , et al.   Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient . Nat Genet . 1996;14:341–344
  85. Sham MH , Lui VC , Fu M , et al.   SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung’s disease infants . Gut . 2001;49:220–226
  86. Wakamatsu N , Yamada Y , Yamada K , et al.   Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease . Nat Genet . 2001;27:369–370
  87. Cacheux V , Dastot-Le Moal F , Kaariainen H , et al.   Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease . Hum Mol Genet . 2001;10:1503–1510
  88. Iwashita T , Kruger GM , Pardal R , et al.   Hirschsprung disease is linked to defects in neural crest stem cell function . Science . 2003;301:972–976
  89. Puri P , Shinkai T . Pathogenesis of Hirschsprung’s disease and its variants (recent progress) . Semin Pediatr Surg . 2004;13:18–24
  90. Proctor ML , Traubici J , Langer JC , et al.   Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung’s disease (implications for surgical approach) . J Pediatr Surg . 2003;38:775–778
  91. Sauer CJ , Langer JC , Wales PW . The versatility of the umbilical incision in the management of Hirschsprung’s disease . J Pediatr Surg . 2005;40:385–389

PII: S1043-1489(06)00016-9

doi: 10.1053/j.scrs.2006.02.003

Seminars in Colon & Rectal Surgery
Volume 17, Issue 1 , Pages 10-19 , March 2006