Hirschsprung’s disease in adults − two case reports and review of the literature
Authors:
R. Škába 1,2; J. Hoch 3; Z. Jech 3; M. Kynčl 4; V. Campr 5
Authors place of work:
Klinika dětské chirurgie 2. LF Univerzity Karlovy a FN Motol, Praha
1; Subkatedra dětské chirurgie IPVZ, Praha
2; Chirurgická klinika 2. LF Univerzity Karlovy a FN Motol, Praha
3; Klinika zobrazovacích metod 2. LF Univerzity Karlovy a FN Motol, Praha
4; Ústav patologie a molekulární medicíny 2. LF Univerzity Karlovy a FN Motol, Praha
5
Published in the journal:
Rozhl. Chir., 2018, roč. 97, č. 3, s. 133-138.
Category:
Kazuistika
Summary
Hirschsprung’s disease (HD) in adults is extremely rare, only three publications in Czech and Czechoslovak journals making reference to the condition after childhood. We present two cases of adult patients with HD.
The first case is a 46-year-old male patient suffering from chronic constipation since childhood and diagnosed with megacolon at the age of 16; however, no further detailed diagnosis was done. At the age of 41, he developed a sigmoid perforation due to fecaloma and underwent urgent rectosigmoid resection and colostomy. 5 months later, Swenson’s coloanal anastomosis with diverting ileostomy was performed. Postoperative course was uneventful. He has two bowel movements a day. 7 years after the Swenson’s procedure, he also underwent adhesiolysis for acute bowel obstruction. His daughter was operated on due to HD at 16 days of age.
The second case is a 57-year-old male patient. He suffered from chronic constipation and megacolon since 2 years of age and was diagnosed with congenital megacolon at the age of 19. However, no detailed diagnostics followed. He had a long interval between stools of up to 14 days. He underwent colonoscopy and, with a diagnosis of resistant Crohn’s disease, was referred to a surgical department where he was diagnosed with HD. Left hemicolectomy was first performed, followed by Swenson’s procedure with diverting ileostomy. All postoperative courses were uneventful. Currently he passes one or two soft stools a day.
Adult HD is extremely rare. However, adult surgeons should consider it in case of refractory constipation since childhood associated with megacolon. Diagnosis is based on contrast radiography and rectal biopsy. Both Swenson’s and Duhamel’s procedures are suitable for surgical management. Left hemicolectomy with colonic rotation and coloanal anastomosis and/or proctocolectomy with J-pouch anastomosis are indicated in advanced forms of non-functional megacolon.
Key words:
adult Hirschsprung’s disease – megacolon − surgical therapy
Zdroje
1. Dvořáková Š, Václavíková E, Škába R, et al. Hirschsprungova choroba a její genetické příčiny. Čes-slov Pediat 2013;68:167−76.
2. Ruttenstock E, Puri P. A meta-analysis of clinical outcome in patients with total intestinal aganglionosis. Pediatr Surg Int 2009;25:833−9.
3. Neilson IR, Yazbeck S. Ultrashort Hirschsprung´s disease: myth or reality. J Pediatr Surg 1990;25:1135−8.
4. Doodnath R, Puri P. Internal anal sphincter achalasia. Semin Pediatr Surg 2009;18: 246−8.
5. Haricharan RN. Georgeson KE. Hirschsprung´s disease. Semin Pediatr Surg 2008;17:266−75.
6. Miamota M, Egami K, Maeda S, et al. Hirschsprung´s disease in adults: report of a case and review of the literature. J Nippon Med Sch 2005;72:113−20.
7. Chen F, Winston III JH, Jain SK, et al. Hirschsprung’s disease in a young adult: report of a case and review of the literature. Annals of Diagnostic Pathology 2006;10:347−51.
8. Qui JF, Shi YJ, Hu L, et al. Adult Hirschsprung´s disease: report of four cases. Int J Clin Exp Patol 2013;6:1624−30.
9. Novák J, Jaroš K, Hledík E, et al. Hirschsprungova nemoc v dospělém věku. Čs gastroenterol a výživa 1976;30:20.
10. Šťastná R, Zamrazilová E, Pirk F, et al. Hirschsprungova choroba u dospělých. Čs gastroenterol a výživa 1984;38:245−50.
11. Miček F. Príspevok k liečbe Hirschsprungovej choroby u dospelých. Lekársky obzor 1971;20:655−60.
12. Hirschsprung H. Stuhltragheit Neugeborener in Folge von Dilatation und Hypertrofie des Colons. Jhrb f Kinderh 1888;27:1−7.
13. Leenders E, Sieber WK. Congenital megacolon − Observation by Frederick Ruysch (1691). J Pediatr Surg 1970; 5:1−3.
14. Boer L Radzium AB, Oostra RJ. Frederic Ruysch (1638−1731): Historical perspective and contemporary analysis of his teratological legacy. Am J Med Genet 2016; 9999A:1−26.
15. Treves F. Idiopathic dilatation of the colon. Lancet 1898;29:276−9.
16. Skaba R. Historical milestones of Hirschsprung’s disease (commemorating the 90th anniversary of Professor Harald Hirschsprung’s death). J Pediatr Surg 2007;42:249−51.
17. Rosin JD, Bargen JA, Waugh JM. Congenital megacolon of a man 54 years of age: report of case. Proc Staff Meet Mayo Clinic 1950;20:710−5.
18. Doodnath R, Puri P. A systematic review and meta-analysis of Hirschsprung’s disease presenting after childhood. Pediatr Surg Int 2010;26:1107−10.
19. Grove K, Ahlawat SK. Hirschsprung’s disease in adults. South Med J 2009;102:127−8.
20. Lynn HB, van Heerden JA. Rectal myectomy in Hirschsprung’s disease: a decade of experience. Arch Surg 1975;110:991−4.
21. Rebollar RE, Cánovas RE, Peláez RP. Hirschsprung disease in an adult patient. Rev Col Gastroenterol 2016;31:50−3.
22. Nakatake R, Hamada Y, Miki H, et al. A case of Hirschsprung’s disease underwent surgery in adulthood. J Pediatr Surg Case Reports 2016;13:1−5.
23. Ryu A, Mun ST, Ahn T, et al. A case of Hirschsprung’s disease diagnosed during pregnancy. J Obstet Gynaecol 2017;37:97−9.
24. Perungo T, John Grifson J, Amudhan A, et al. An elusive cause of perineal pain in a patient with Hirschsprung’s disease. BMJ Case Rep 2016. Available from: doi:10.1136/bcr-2016-215173.
25. Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesion producing megacolon. Surgery 1948;24:212−20.
26. Duhamel B. Une nouvelle opération pour la megacolon congenital. L’abaissement rétrorectal et transanal du colon et son application possible au traitement de quelques autres malformations. Presse Med 1956;64:2249−50.
27. Soave F. A new surgical technique for the treatment of the Hirschsprung’s disease. Surgery 1964;56:1007−14.
28. Ding W, Jiang J, Feng X, et al. Novel surgery for refractory mixed constipation: Jinling procedure – technical notes and early outcome. Arch Med Sci 2014;22:1129–34.
29. Lopez Ruiz JA, Tallon Aguilar L, Sanchez Moreno L, et al. Hirschsprung’s disease with debut in adult age as acute intestinal obstruction: case report. Rev Esp Enferm Dig 2016;108:742−6.
30. Wei ZJ, Huang L, Xu AM. Reoperation in an adult female with “right-sided” Hirschsprung´s disase complicated by refractory hypertension and cough. World J Gastroenterol 2016;22:9235−41.
31. Merle Scott WJ, Morton JJ. Sympathetic inhibition of the large intestine in Hirschsprung’s disease. J Clin Invest 1930;9:247–62.
32. Adson AW. Hirschsprung’s disease, indication for treatment and results obtained by sympathectomy. Surgery 1947;22:259−70.
Štítky
Chirurgia všeobecná Ortopédia Urgentná medicínaČlánok vyšiel v časopise
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