Journal of Gastrointestinal Surgery

, Volume 14, Issue 5, pp 916–925 | Cite as

Congenital Anomalies of the Gastrointestinal Tract Diagnosed in Adulthood—Diagnosis and Management

  • George Vaos
  • Evangelos P. MisiakosEmail author
Review Article



Congenital anomalies of the gastrointestinal tract are a significant cause of morbidity in children and less frequently in adults. In rare cases, they may run undetected during childhood and may present during adolescence. These abnormalities include developmental obstructive defects of the duodenum and the small intestine, anomalies of rotation and fixation, intestinal duplications, and anomalies of the colon and rectum.


When detected in adulthood, they may require different evaluation and surgical correction. Some of these anomalies should be managed surgically as soon as they cause symptoms. Others may cause persistent problems in adulthood requiring medical management for years. Herein, we present a comprehensive review of all the different ways of diagnosis and management of these anomalies reported in the literature.


Congenital anomalies Gastrointestinal tract Adult 


  1. 1.
    Ikenaga T, Honmyo U, Takano S, et al. Primary hypertrophic pyloric stenosis in the adult. J Gastroenterol Hepatol 1992;7:524–526.CrossRefPubMedGoogle Scholar
  2. 2.
    Zavala C, Bolio A, Montalvo R. Hypertrophic pyloric stenosis: adult and congenital types occurring in the same family. J Med Genet 1969;6:126–128.CrossRefPubMedGoogle Scholar
  3. 3.
    van Roggen JFG, van Krieken JH. Adult hypertrophic pyloric stenosis: case report and review. J Clin Pathol 1998;51:479–480.CrossRefGoogle Scholar
  4. 4.
    Quigley RL, Pruitt SK, Pappas TN, Akwari O. Primary hypertrophic pyloric stenosis in the adult. Arch Surg 1990;125:1219–1221.PubMedGoogle Scholar
  5. 5.
    Go TS, Morse WH. Hypertrophic pyloric stenosis in adults. Am J Gastroenterol 1973;60:400–405.PubMedGoogle Scholar
  6. 6.
    Dye TE, Vidals VG, Lockhart CE, Snider WR. Adult hypertrophic pyloric stenosis. Am Surg 1979;45:478–484.PubMedGoogle Scholar
  7. 7.
    Hellan M, Lee T, Lerner T. Diagnosis and therapy of primary hypertrophic pyloric stenosis in adults: case report and review of the literature. J Gastrointest Surg 2006;10:265–269.CrossRefPubMedGoogle Scholar
  8. 8.
    Navab F, Flores L. Multinodular adult hypertrophic pyloric stenosis. J Clin Gastroenterol 1989;11:667–670.CrossRefPubMedGoogle Scholar
  9. 9.
    Papaziogas B, Lazaridis C, Souparis A, et al. Idiopathic hypertrophic pyloric stenosis combined with left paraduodenal hernia. Med Princ Pract 2007; 16:151–154.CrossRefPubMedGoogle Scholar
  10. 10.
    Kleitsch WP. Pyloric hypertrophy in the adult. Nebr State Med J 1953;38:87–89.PubMedGoogle Scholar
  11. 11.
    Kirklin BR, Harris MT. Hypertrophy of the pyloric muscle of adults: a distinctive roentgenologic sign. Am J Roentgenol 1933;29:437–442.Google Scholar
  12. 12.
    Twining EW. Chronic hypertrophic stenosis of the pylorus in adults. Br J Radiol 1933;6:644–655.CrossRefGoogle Scholar
  13. 13.
    Schuster MM, Smith VM. The pyloric “cervix sign” in adult hypertrophic pyloric stenosis. Gastrointest Endosc 1970;16:210–211.PubMedGoogle Scholar
  14. 14.
    Danikas D, Geis WP, Ginalis EM, Gorcey SA, Stratoulias C. Laparoscopic pyloroplasty in idiopathic hypertrophic pyloric stenosis in an adult. JSLS 2000; 4:173–175.PubMedGoogle Scholar
  15. 15.
    Simson JN, Thomas AJ, Stoker TA. Adult hypertrophic pyloric stenosis and gastric carcinoma. Br J Surg 1986;73:379–380.CrossRefPubMedGoogle Scholar
  16. 16.
    Brahos GJ, Mack E. Adult hypertrophic pyloric stenosis managed by double pyloroplasty. JAMA 1980;243:1928–1929.CrossRefPubMedGoogle Scholar
  17. 17.
    Alain JL, Grousseau D, Terrier G. Extramucosal pyloromyotomy by laparoscopy. Surg Endosc 1991;5:174–175.CrossRefPubMedGoogle Scholar
  18. 18.
    van der Bilt JDW, Kramer WLM, van der Zee DC, Bax NMA. Laparoscopic pyloromyotomy for hypertrophic pyloric stenosis. Impact of experience on the results in 182 cases. Surg Endosc 2004;18:907–909.CrossRefPubMedGoogle Scholar
  19. 19.
    Selzer D, Croffie J, Breckler F, Rescorla F. Hypertrophic pyloric stenosis in an adolescent. J Laparoendosc Adv Surg Tech 2009;19:451–452.CrossRefGoogle Scholar
  20. 20.
    Ladd AP, Madura JA. Congenital duodenal anomalies in the adult. Arch Surg 2001;136:576–584.CrossRefPubMedGoogle Scholar
  21. 21.
    Ross JA. Congenital abnormalities in adult surgery. J R Coll Surg Edinb 1980;25:8–16.PubMedGoogle Scholar
  22. 22.
    Ravitch MM. The pancreas in infants and children. Surg Clin North Am 1975;55:377–385.PubMedGoogle Scholar
  23. 23.
    Sperazza JC, Flanagan RA Jr, Katlic MR. Annular pancreas and intermittent duodenal obstruction in an alcoholic adult. Clev Clin J Med 1992;59:208–210.Google Scholar
  24. 24.
    Lloyd-Jones W, Mountain JC, Warren KW. Annular pancreas in the adult. Ann Surg 1972;176:163–170.CrossRefPubMedGoogle Scholar
  25. 25.
    De Ugarte DA, Dutson EP, Hiyama DT. Annular pancreas in the adult: management with laparoscopic gastrojejunostomy. Am Surg 2006;72:71–73.PubMedGoogle Scholar
  26. 26.
    Touloukian RJ, Smith EI. Disorders of rotation and fixation. In O’Neill JA, Rowe MI, Grosfeld JL, et al, eds. Pediatric surgery. 5th ed. St. Louis: Mosby, 1998, pp 1199–1214.Google Scholar
  27. 27.
    Skandalakis JE, Gray SW, Ricketts R, Richardson DD. The small intestines. In Skandalakis JE, Gray SW, eds. Embryology for surgeons: the embryological basis for the treatment of congenital anomalies. 2nd ed. Baltimore: Williams & Wilkins, 1994, pp 184–236.Google Scholar
  28. 28.
    Dott NM. Anomalies of intestinal rotation: their embryology and surgical aspects with report of five cases. Br J Surg 1923;11:251–286.CrossRefGoogle Scholar
  29. 29.
    Clark LA, Oldham KT. Malrotation. In Ashcraft KW, Murphy JP, Sharp RJ, et al, eds. Pediatric surgery. 3rd ed. Philadelphia: Saunders, 2000, pp 425–442.Google Scholar
  30. 30.
    Donnellan WL, Kimura K. Malrotation, internal hernias, congenital bands. In Donnelan WL, Burrington JD, Kimura K, eds. Abdominal surgery of infancy and childhood. New York: Harwood Academic Publishers, 1996, 43:1–27.Google Scholar
  31. 31.
    Kapfer SA, Rappold JF. Intestinal malrotation—not just the pediatric surgeon’s problem. J Am Coll Surg 2004;199:628–635.CrossRefPubMedGoogle Scholar
  32. 32.
    Berrocal T, Lamas M, Gutierez J, et al. Congenital anomalies of the small intestine, colon and rectum. Radiographics 1999;19:1219–1236.PubMedGoogle Scholar
  33. 33.
    Firor HV, Steiger E. Morbidity of rotational abnormalities of the gut beyond infancy. Clev Clin Q 1983;50:303–309.Google Scholar
  34. 34.
    Bodard E, Monheim P, Machiels F, et al. CT of midgut malrotation presenting in an adult. J Comput Assist Tomogr 1994;18:501–504.CrossRefPubMedGoogle Scholar
  35. 35.
    Ladd WE. Congenital obstruction of the duodenum in children. N Engl J Med 1932;206:277–283.Google Scholar
  36. 36.
    Ladd WE, Gross RE. Abdominal surgery of infancy and childhood. Philadelphia: Saunders, 1941, pp 53–70.Google Scholar
  37. 37.
    von Flue M, Herzog U, Ackermann C, et al. Acute and chronic presentation of intestinal nonrotation in adults. Dis Colon Rectum 1994;37:192–198.CrossRefGoogle Scholar
  38. 38.
    Seymour NE, Andersen DK. Laparoscopic treatment of intestinal malrotation in adults. JSLS 2005;9:298–301.PubMedGoogle Scholar
  39. 39.
    Matzke GM, Dozois EJ, Larson DW, Moir CR. Surgical management of intestinal malrotation in adults: comparative results for open and laparoscopic Ladd procedures. Surg Endosc 2005;19:1416–1419.CrossRefPubMedGoogle Scholar
  40. 40.
    Mazziotti MV, Strassberg SM, Langer JC. Intestinal rotation abnormalities without volvulus: the role of laparoscopy. J Am Coll Surg 1997;185:172–176.PubMedGoogle Scholar
  41. 41.
    Fu T, Tong WD, He YJ, et al. Surgical management of intestinal malrotation in adults. World J Surg 2007;31:1797–1803.CrossRefPubMedGoogle Scholar
  42. 42.
    Gohl ML, Demeester TR. Midgut nonrotation in adults: an aggressive approach. Am J Surg 1975;129:319–323.CrossRefPubMedGoogle Scholar
  43. 43.
    McVay MR, Kokoska ER, Jackson RJ, Smith SD. The changing spectrum of intestinal malrotation: diagnosis and management. Am J Surg 2007;194:712–719.CrossRefPubMedGoogle Scholar
  44. 44.
    Maxson RT, Franklin PA, Wagner CW. Malrotation in the older child: surgical management, treatment, and outcome. Am Surg 1995;61:135–138.PubMedGoogle Scholar
  45. 45.
    Praise P, Flageole H, Shaw KS, et al. Should malrotation in children be treated differently according to age? J Pediatr Surg 2000;35:756–758.CrossRefGoogle Scholar
  46. 46.
    Schey WL, Donaldson JS, Sty JR. Malrotation of bowel: variable patterns with different surgical considerations. J Pediatr Surg 1993;28:96–101.CrossRefPubMedGoogle Scholar
  47. 47.
    Macpherson RI. Gastrointestinal duplications: clinical, pathologic, etiologic, and radiologic considerations. Radiographics 1993;13:1063–1080.PubMedGoogle Scholar
  48. 48.
    Bentley JFR, Smith JR. Developmental posterior enteric remnant and spinal malformations. Arch Dis Child 1960;35:76–86.CrossRefPubMedGoogle Scholar
  49. 49.
    Johnstone MJ, Clegg JF. Gastrointestinal haemorrhage from small bowel duplication. Postgrad Med J 1977;53:700–702.CrossRefPubMedGoogle Scholar
  50. 50.
    Coit DG, Mies C. Adenocarcinoma arising within a gastric duplication cyst. J Surg Oncol 1992;50:274–277.CrossRefPubMedGoogle Scholar
  51. 51.
    Youngblood P, Blumenthal BI. Enteric duplication cyst. South Med J 1983;76:670–672.PubMedGoogle Scholar
  52. 52.
    Klimopoulos S, Gialvalis D, Marougas M, et al. Unusual case of massive hemorrhage of a gastric hemorrhage of a gastric duplication cyst in a very advanced age. Langenbecks Arch Surg 2008;394:745–747.CrossRefPubMedGoogle Scholar
  53. 53.
    Holcomb GW 3rd, Gheissari A, O’Neill JA, et al. Surgical management of alimentary tract duplications. Ann Surg 1989;209:167–174.CrossRefPubMedGoogle Scholar
  54. 54.
    Faerber EN, Balsara R, Vinocur CD, de Chadarevian JP. Gastric duplication with hemoptysis: CT findings. Am J Roentgenol 1993;161:1245–1246.Google Scholar
  55. 55.
    Longmire WP, Rose AS. Haemoductal pancreatitis. Surg Gynecol Obstet 1973;136:246–250.PubMedGoogle Scholar
  56. 56.
    Rao KLN, Pimpalwar A, Vaiphei K, Chowdhary S. Intrapancreatic gastric duplication cyst presenting as lower gastrointestinal bleeding. J Pediatr Surg 2003;38:243–244.CrossRefPubMedGoogle Scholar
  57. 57.
    Zeebregts CJ, Slot B, Brinkhuis M, Gerritsen JJ. Gastric duplication cyst. Arch Surg 2004;139:687–688.CrossRefPubMedGoogle Scholar
  58. 58.
    Dittrich JR, Spottswood SE, Jolles PR. Gastric duplication cyst: scintigraphy and correlative imaging. Clin Nucl Med 1997;22:93–96.CrossRefPubMedGoogle Scholar
  59. 59.
    Machado MAC, Santos VR, Martino RB. Laparoscopic resection of gastric diverticulum. Surg Laparosc Endosc Perc Tech 2003;13:268–270.CrossRefGoogle Scholar
  60. 60.
    Puliglanda PS, Nguyen LT, St-Vil D, et al. Gastrointestinal duplications. J Pediatr Surg 2003;38:740–744.CrossRefGoogle Scholar
  61. 61.
    Fotiadis C, Genetzakis M, Papandreou I, et al. Colonic duplication in adults: Reports of two cases presenting with rectal bleeding. World J Gastroenterol 2005;11:5072–5074.PubMedGoogle Scholar
  62. 62.
    Choong CK, Frizelle FA. Giant colonic diverticulum: report of four cases and review of the literature. Dis Colon Rectum 1998;41:1178–1185.CrossRefPubMedGoogle Scholar
  63. 63.
    Frittelli P, Costa G, Zanella L, et al. Intestinal duplication in the adult. A case report of a colonic duplication and a review of the literature. Chir Ital 2002;54:721–728.Google Scholar
  64. 64.
    Horie H, Iwasaki I, Takahashi H. Carcinoid in a gastrointestinal duplication. J Pediar Surg 1986;21:902–904.CrossRefGoogle Scholar
  65. 65.
    Robert J, Ambrosetti P, Widgren S, Rohner A. Perforated tubular duplication of the sigmoid colon in adults. Gastronerol Clin Biol 1990;14:776–779.Google Scholar
  66. 66.
    Jimenez M, Cadiere GB, Dapri G, et al. Duodenal duplication cyst in an adult: first simultaneous laparoscopic and endoscopic surgery. J Laparoendosc Adv Surg Tech A 2009;19:207–710.CrossRefPubMedGoogle Scholar
  67. 67.
    Salameh JR, Votanopoulos KI, Hilal RE, et al. Rectal duplication cyst in an adult: the laparoscopic approach. J Laparoendosc Adv Surg Tech A 2002;12:453–456.CrossRefPubMedGoogle Scholar
  68. 68.
    Kabay S, Yucel M, Yaylak F, et al. Combined duplication of the colon and vermiform appendix in an adult patient. World J Gastroenterol 2008;28:641–643.CrossRefGoogle Scholar
  69. 69.
    Cragan JD, Martin ML, Moore CA, Khoury MJ. Descriptive epidemiology of small intestinal atresia, Atlanta, Georgia. Teratology 1993;48:441–450.CrossRefPubMedGoogle Scholar
  70. 70.
    Ethen MK, Canfield MA. Impact of including elective pregnancy terminations before 20 weeks gestation on birth defect rates. Teratology 2002;66:S32–S35.CrossRefPubMedGoogle Scholar
  71. 71.
    Harris J, Kallen B, Robert E. Descriptive epidemiology of alimentary tract atresia. Teratology 1995;52:15–29.CrossRefPubMedGoogle Scholar
  72. 72.
    Louw JH, Barnard CN. Congenital intestinal atresia: observations on its origin. Lancet 1955;2:1065–1067.CrossRefGoogle Scholar
  73. 73.
    Shorter NA, Georges A, Perenyi A, Garrow E. A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia. J Pediatr Surg 2006;41:1822–1825.CrossRefPubMedGoogle Scholar
  74. 74.
    Touloukian RJ. Diagnosis and treatment of jejunoileal atresia. World J Surg 1993;17:310–317.CrossRefPubMedGoogle Scholar
  75. 75.
    Escobar MA, Ladd AP, Grosfeld JL, et al. Duodenal atresia and stenosis: long-term follow-up over 30 years. J Pediatr Surg 2004;39:867–871.CrossRefPubMedGoogle Scholar
  76. 76.
    Edmonson JM. Johann Friedrich Meckel the younger: Meckel’s diverticulum. Gastrointest Endosc 2001;54:19A–20A.PubMedGoogle Scholar
  77. 77.
    Stone PA, Hofeldt MJ, Cambell JE, et al. Meckel diverticulum: ten-year experience in adults. South Med J 2004;97:1038–1041.CrossRefPubMedGoogle Scholar
  78. 78.
    Weinstein EC, Cain JC, Remine W. Meckel diverticulum: 55 years of clinical and surgical experience. JAMA 1962;182:251–253.PubMedGoogle Scholar
  79. 79.
    Yamaguchi M, Takeuchi S, Awazu S. Meckel diverticulum: investigation of 600 patients in Japanese literature. Am J Surg 1978;136:247–249.CrossRefGoogle Scholar
  80. 80.
    Park JJ, Wolff BG, Tollefson MK, et al. Meckel diverticulum. The Mayo Clinic experience in 1476 patients (1950–2002). Ann Surg 2005;241:529–533.CrossRefPubMedGoogle Scholar
  81. 81.
    Dumper J, Mackenzie S, Mitchell P, et al. Complications of Meckel’s diverticula in adults. Can J Surg 2006;49:353–357.PubMedGoogle Scholar
  82. 82.
    Rutherford RB, Akers DR. Meckel diverticulum: a review of 148 pediatric patients with specific reference to the pattern of bleeding and to mesodiverticular vascular bands. Surgery 1966;59:618–626.PubMedGoogle Scholar
  83. 83.
    Mackey WC, Dineen P. A fifty-year experience with Meckel diverticulum. Surg Gynecol Obstetr 1983;156:56–64.Google Scholar
  84. 84.
    Lichtstein DM, Herskowitz B. Massive gastrointestinal bleeding from Meckel’s diverticulum in a 91-year-old man. South Med J 1998;91:753–754.PubMedGoogle Scholar
  85. 85.
    Martin JP, Connor PD, Charles K. Meckel’s diverticulum. Am Fam Physician 2000;44:1037–1042.Google Scholar
  86. 86.
    Lin S, Suhocki PV, Ludwig KA, et al. GI bleeding in adult patients with Meckel diverticulum: the role of technetium 99m pertechnetate scan. South Med J 2002;95:1338–1341.PubMedGoogle Scholar
  87. 87.
    Sfakianakis GN, Conway JJ. Detection of ectopic gastric mucosa in Meckel’s diverticulum and in other aberrations by scintigraphy: I. Pathophysiology and 10-year clinical experience. J Nucl Med 1981;22:647–654.PubMedGoogle Scholar
  88. 88.
    Daneman A, Lobo E, Alton DJ, Shuckett B. The value of sonography, CT and air enema for detection of complicated Meckel diverticulum in children with non-specific clinical presentation. Pediatr Radiol 1998;28:928–932.CrossRefPubMedGoogle Scholar
  89. 89.
    Williams RS. Management of Meckel’s diverticulum. Br J Surg 1981;68:477–480.CrossRefPubMedGoogle Scholar
  90. 90.
    Soltero MJ, Bill AH. The natural history of Meckel diverticulum and its relation to incidental removal. Am J Surg 1976;132:168–173.CrossRefPubMedGoogle Scholar
  91. 91.
    Zani A, Eaton S, Rees CM, Pierro A. Incidentally detected Meckel diverticulum: to resect or not to resect? Ann Surg 2008;247:276–281.CrossRefPubMedGoogle Scholar
  92. 92.
    Cullen JJ, Kelly KA, Moir CR, et al. Surgical management of Meckel’s diverticulum: an epidemiologic, population-based study. Ann Surg 1994;220:564–568, discussion 568–569.PubMedCrossRefGoogle Scholar
  93. 93.
    Bona D, Schipani LS, Nencioni M, Rubino B, Bonavina L. Laparoscopic resection for incidentally detected Meckel diverticulum. World J Gastroenterol 2008;14:4961–4963.CrossRefPubMedGoogle Scholar
  94. 94.
    Ishigami S, Baba K, Kato K, et al. Small bowel obstruction secondary to Meckel diverticulum detected and treated laparoscopically-case report. Surg Laparosc Endosc Percutan Tech 2006;16:344–346.CrossRefPubMedGoogle Scholar
  95. 95.
    Rivas H, Cacchione RN, Allen JW. Laparoscopic management of Meckel’s diverticulum in adults. Surg Endosc 2003;17:620–622.CrossRefPubMedGoogle Scholar

Copyright information

© The Society for Surgery of the Alimentary Tract 2009

Authors and Affiliations

  1. 1.Department of Pediatric SurgeryAlexandroupolis University Hospital, Democritus University of Thrace School of MedicineAlexandroupolisGreece
  2. 2.3rd Department of SurgeryAttikon University Hospital, University of Athens School of MedicineAthensGreece

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