Pediatric Surgery International

, Volume 19, Issue 11, pp 725–728 | Cite as

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

  • Fumiaki Toki
  • Norio Suzuki
  • Ken Inoue
  • Makoto Suzuki
  • Kyoko Hirakata
  • Kyoko Nagai
  • Minoru Kuroiwa
  • James R. Lupski
  • Yoshiaki Tsuchida
Original Article

Abstract

The authors report two cases of the rare concurrence of intestinal aganglionosis and Waardenburg syndrome in Japanese infants. The patients were a 1-month-old girl and a 3-month-old boy at diagnosis, and both of them had either short segment or ultra-short segment aganglionosis. A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short. The clinical features of aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent of aganglionosis with those of Hirschsprung’s disease associated with Ondine’s curse, another type of neurocristopathy.

Keywords

Intestinal aganglionosis Hirschsprung’s disease Waardenburg-Shah syndrome Neurocristopathy 

References

  1. 1.
    Waardenburg PJ (1951) A new syndrome combining developmental anomalies of the eyelids, eyebrows, and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3:195Google Scholar
  2. 2.
    Shah KN, Dalal SJ, Desai MP et al. (1981) White forelock, pigmentary disorder of irides, and long segment Hirschsprung’s disease: possible variant of Waardenburg syndroma. J Pediatr 99:432–435Google Scholar
  3. 3.
    El-Halaby E, Coran AG (1994) Hirschsprung’s disease associated with Ondine curse: report of three cases and review of the literature. J Pediatr Surg 29:530–535PubMedGoogle Scholar
  4. 4.
    Nakahara S, Yokomori K, Tamura K et al. (1995) Hirschsprung’s disease associated with Ondine’s curse: a special subgroup? J Pediatr Surg 30:1481–1484PubMedGoogle Scholar
  5. 5.
    Matsumoto K, Arima T, Izaki T et al. (2002) Ondine’s curse associated with Hirschsprung’s disease and ganglioneuroblastoma. J Pediatr Gastroenterol Nutr 34:83–86CrossRefPubMedGoogle Scholar
  6. 6.
    Inoue K, Tanabe Y, Lupski JR (1999) Myelin deficiencies in both the central and peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46:313–318PubMedGoogle Scholar
  7. 7.
    McKusick VA (1973) Congenital deafness and Hirschsprung’s disease. N Engl J Med 288:691Google Scholar
  8. 8.
    Omenn GS, McKusick VA (1979) The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 3:217–223PubMedGoogle Scholar
  9. 9.
    Hofstra RM, Osinga J, Tan-Sindhunata G et al. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12:445–447PubMedGoogle Scholar
  10. 10.
    Edery P, Attie T, Amiel J et al. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12:442–444PubMedGoogle Scholar
  11. 11.
    Pingault V, Bondurand N, Kuhlbrodt K et al. (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:17̄̄1–173PubMedGoogle Scholar
  12. 12.
    Tanabe Y, Arii J, Inoue K (1999) A case of Waardenburg-Hirschsprung syndrome with SOX10 gene mutation. Brain Dev 31:S240Google Scholar
  13. 13.
    Hirabayashi S, Inoue K (2000) A case of Waardenburg-Hirschsprung syndrome associated with SOX10 gene mutation and hypoplasia of the central and peripheral nerve sheath. Brain Dev 32:S245Google Scholar
  14. 14.
    Branski D, Denis NR, Neale JM et al. (1979) Hirschsprung’s disease and Waardenburg’s syndrome. Pediatrics 63:803–805PubMedGoogle Scholar
  15. 15.
    Fried K, Beer S (1980) Waardenburg’s syndrome and Hirschsprung’s disease in the same patient. Clin Genet 19:91–92Google Scholar
  16. 16.
    Mahakrishnan A, Srinivasan MS (1980) Piebaldness with Hirschsprung’s disease. Arch Dermatol 116:1102CrossRefGoogle Scholar
  17. 17.
    Woodyear LL, Boulesteix J, Rutkowski J et al. (1980) Waardenburg’s syndrome associated with Hirschsprung’s disease and other anomalies. Pediatrics 65:368–369PubMedGoogle Scholar
  18. 18.
    Kelley RI, Zackai EH (1981) Congenital deafness, Hirschsprung’s and Waardenburg’s syndrome. Am J Hum Genet 33:65AGoogle Scholar
  19. 19.
    Ambani LM (1983) Waardenburg and Hirschsprung syndromes. J Pediatr 102:802Google Scholar
  20. 20.
    Farndon PA, Bianchi A (1983) Waardenburg’s syndrome associated with total aganglionosis. Arch Dis Child 58:932–933PubMedGoogle Scholar
  21. 21.
    Liang JC, Juarez CP, Golgberg MF (1983) Bilateral bicolored irides with Hirschsprung’s disease: a neural crest syndrome. Arch Ophthalmol 101:69–73PubMedGoogle Scholar
  22. 22.
    Mallory SB, Wiener E, Nordlund JJ (1986) Waardenburg’s syndrome with Hirschsprung’s disease: a neural crest defect. Pediatr Dermatol 3:119–124PubMedGoogle Scholar
  23. 23.
    Currie ABM, Haddad M, Honeyman M et al. (1986) Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung’s disease-Waardenburg’s syndrome. J Pediatr Surg 21:248–250Google Scholar
  24. 24.
    Meire F, Standaert L, De Laey JJ et al. (1997) Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med Genet 27:683–686Google Scholar
  25. 25.
    Ohgami H, Nagasaki A, Hukushige T et al. (1988) Hirschsprung’s disease associated with Waardenburg’s syndrome. Nihon Rinshou Gekaigakkai Zasshi 49:1708Google Scholar
  26. 26.
    Santos H, Mateus J, Leal MJ (1988) Hirschsprung’s disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J Med Genet 25:204–208PubMedGoogle Scholar
  27. 27.
    Kaplan P, Chaderevian JP de (1988) Piebaldism-Waardenburg syndrome, histopathologic evidence for a neural crest syndrome. Am J Med Genet 31:679–688PubMedGoogle Scholar
  28. 28.
    Kitagawa A, Tamaki K, Yokoyama T et al. (1989) A case of Waardenburg’s syndrome associated with Hirschsprung’s disease. Folia Ophthalmol Jpn 40:1111–1114Google Scholar
  29. 29.
    Taniai N, Onda M, Egami K et al. (1991) A case of Waardenburg syndrome associated with Hirschsprung’s disease. J Jpn Soc Pediatr Surg 27:1008–1012Google Scholar
  30. 30.
    Takanashi J, Fujimoto N, Sugita K et al. (1992) Two cases of Waardenburg’s syndrome. Pediatr Diagn Treat 55:241–244Google Scholar
  31. 31.
    Ozeki T, Shirai S, Yamamoto Y et al. (1995) Ophthalmologic changes in Hirschsprung’s disease. Clin Ophthalmol 49:1007–1010Google Scholar
  32. 32.
    Bonnet JP, Till M, Edery P et al. (1996) Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Eur J Pediatr Surg 6:245–248PubMedGoogle Scholar
  33. 33.
    Hirata A, Imaizumi S, Matsumoto M et al. (1996) Skeletal changes associated with copper deficiency in an infant with hypohidrotic ectodermal dysplasia, Waardenburg syndrome, and Hirschsprung’s disease on prolonged parenteral nutrition. Jpn J Pediatr Surg 28:1217–1222Google Scholar
  34. 34.
    Mukai M, Hayashi A, Kamagata S et al. (1997) A case of Shah-Waardenburg syndrome. Jpn J Neonatol 33:749Google Scholar
  35. 35.
    Shim WKT, Derieg M, Powell BR et al. (1999) Near total aganglionosis in the Waardenburg-Shah syndrome. J Pediatr Surg 34:1853–1855PubMedGoogle Scholar
  36. 36.
    Kleinhaus S, Boley S, Sheran M et al. (1979) Hirschsprung’s disease: a survey of the members of the surgical section of the American Academy of Pediatrics. J Pediatr Surg 14:588–597PubMedGoogle Scholar
  37. 37.
    Inoue K, Shilo K, Boerkoel CF et al. (2002) Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 52:836–842CrossRefPubMedGoogle Scholar
  38. 38.
    Pignault V, GuiochonMante A, Bondurand N et al. (2000) Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and a deafness: a developmental “neural crest syndrome” related to SOX10 mutation. Ann Neurol 48:671–676PubMedGoogle Scholar
  39. 39.
    Tomiyama H, Shimotake T, Ono S et al. (2001) Relationship between the type of RET/GDNF/NTN or SOX10 gene mutations and long-term results after surgery for total colonic aganglionosis with small bowel involvement. J Pediatr Surg 36:1685–1688PubMedGoogle Scholar
  40. 40.
    Sham MH, Lui VC, Fu M et al. (2001) SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung’s disease infants. Gut 4:220–226CrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Fumiaki Toki
    • 1
  • Norio Suzuki
    • 1
  • Ken Inoue
    • 2
  • Makoto Suzuki
    • 1
  • Kyoko Hirakata
    • 3
  • Kyoko Nagai
    • 4
  • Minoru Kuroiwa
    • 1
  • James R. Lupski
    • 2
  • Yoshiaki Tsuchida
    • 1
  1. 1.Department of SurgeryGunma Children’s Medical CenterHokkitsu, Seta-gun, Gunma 377-8577Japan
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Division of OphthalmologyGunma Children’s Medical CenterGunmaJapan
  4. 4.Division of Oto-Rhino-LaryngologyGunma Children’s Medical CenterGunmaJapan

Personalised recommendations