Waardenburg Sendromu Ve Hirschsprung Hastalığı Birlikteliği: 10 Yıllık Deneyim

Abstract

Giriş: Waardenburg-Shah Sendromu Hirschsprung Hastalığı ile Waardenburg sendromunun birlikte görüldüğü, değişken penetrasyon gösteren otozomal resesif bir hastalıktır. Bu sendromda tutulan barsak segmentinin uzunluğu değişken olmakla beraber, hastaların büyük çoğunluğunda ince barsağı da içeren total kolon aganglionozis mevcuttur. Tedavi halen tartışmalı olmakla birlikte, başlangıçta enterostomi ve bunu takiben kesin düzeltici operasyonlar uygulanmaktadır. Bu çalışmada Waardenburg sendrom olan ve ince barsağı da içeren total kolon aganglionozisi olan 2 kardeş ve birinci dereceden akraba olan 3 erkek hasta klinik özellikler ve tedavi yöntemleriyle beraber sunulmuştur. Hastalar ve Yöntem: Yaşamlarının ilk 48 saati içerisinde barsak tıkanıklığı bulgularıyla hastaneye yatırılan iki olgu elektif, biri acil şartlarda ameliyata alındı. Ganglionik segment uzunlukları sırasıyla 6, 8 ve 20 cm olarak saptandı. Bu hastalara aganglionik enterostomi (Ziegler ameliyatı) uygulandı. Postoperatif 3. haftada enterostomileri çalışmaya başladı ve tartı alımları gözlendi. Ancak yaşamlarının 5-12. aylarında sepsise bağlı olarak kaybedildiler. Tartışma: Waardenburg-Shah Sendromlu olgularda ince barsağı da içeren total kolonik aganglionozis daha sık görülmektedir. Ganglionik barsak uzunluğu yeterli olmayan olgularda Ziegler ameliyatı uygulanarak çocuğun büyümesi için zaman kazanılırken, total parenteral beslenmeyebağlı komplikasyonlar azaltılabilir.

Keywords

• Waardenburg-Shah sendromu, Hirschsprung hastalığı, total kolonik aganglionozis

WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE ASSOCIATION:10 YEARS EXPERIENCE

Abstract

Introduction: The Waardenburg-Shah Syndrome is an autosomal recessive disease with varied penetration where Hirschsprung’s disease and the Waardenburg syndrome are seen together. Although the length of the involved intestinal segment varies in this syndrome, most patients suffer from total colonic aganglionosis with or without small bowel involvement. The treatment of this syndrome is controversial but definitive surgery is used following a preliminary enterostomy. We present 2 sibling patients and one first-degree relative of this family, for a total of 3 male patients with Waardenburg syndrome and total colonic aganglionosis with small bowel involvement, together with their clinical characteristics and treatment methods in this study .Patients and Method: The patients who presented with findings intestinal obstruction within of the first 48 hours after birth were operated, 2 patients under elective conditions and 1 as an emergency. The ganglionic segment lengths of the patients were 6, 8 and 20 cm respectively. Aganglionic enterostomy was performed (Ziegler operation) for these patients. The enterostomies started to function on the 3rd postoperative week and they started to gain weight. However, all died due to sepsis on the 5th to 12th month of life.Conclusion: Waardenburg-Shah Syndrome patients have a higher incidence of total colonic aganglionosis with or without small bowel involvement. The Ziegler operation may be used in patients with inadequate ganglionic bowel length to gain some time for the child to grow and to decrease TPN complications

Keywords

• Waardenburg-Shah syndrome, Hirschsprung disease, total colonic aganglionosis

References

1. Waardenburg PJ. A new syndrome combining developmental ano- malies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951; 3: 195-253.
2. Moore SW, Johnson AG. Hirschsprung’s disease: genetic and functional associations of Down’s and Waardenburg syndromes. Semin Pediatr Surg 1998; 7: 156-161.
3. McKusick VA. Congenital deafness and Hirschsprung’s disease. N Engl J Med 1973; 288:691.
4. Omenn, GS, McKusick VA. The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 1979; : 217-223.
5. Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndro- me. J Pediatr 1981; 99: 432-435.
6. Suita S, Taguchi T, Kamimura T, Yanai K. Total colonic aganglio- nosis with or without small bowel involvement: a changing profile. J Pediatr Surg 1997; 32: 1537-1541.
7. Farndon PA, Bianchi A. Waardenburg’s syndrome associated with total aganglionosis. Arch Dis Child 1983; 58: 932-933.
8. Gnananayagam EJ, Solomon R, Chandran A, Anbarasi S, Sen S, Moses PD. Long segment Hirschsprung’s disease in the Waardenburg-Shah syndrome. Pediatr Surg Int 2003; 19: 501

9. Toki F, Suzuki N, Inoue K,Suzuki M, Hirakata K, Nagai K, Ku- roiwa M, Lupski Jr, Tsuchida Y. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int 2003; 19:725-728.
10. Currie ABM, Haddad M, Honeyman M, Body SAM. Associated Developmental Abnormalities of the Anterior End of the Neural Crest: Hirschsprung’s Disease- Waardenburg’s Syndrome. J Pedi- atr Surg 1986; 21: 248-250.
11. Ariturk E, Tosyali N, Ariturk N: A case of Waardenburg syndro- me and aganglionosis. Turk J Pediatr 1992; 34: 111-114.
12. Sharif K, Beath SV, Kelly DA, McKieman P, van Mourik I, Mirza D, Mayer AD, Buckels JA, de Ville de Goyet J. New perspective for the management of near-total or total intestinal aganglionosis in infants. J Pediatr Surg 2003;38:25-28.
13. Zenciroglu A, Akın A, Cakmak O, Demirel N, Bas A.Y, Aydemir C, Onac G. Waardenburg-Shah Sendromu. Turkiye Klinıikleri ; 13: 242-245. Jan IA, Stroedter L, Haq AU, Din ZU.. Association of Shah- Waardenburgh syndrome: a review of 6 cases. J Pediatr Surg 2008; : 744-747.
14. Sarin YK, Manchanda V. Shah Waardenburg syndrome. Indian Pediatr 2006; 43 :452.
15. Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meniners LC, Brouwer OF, van Essen AJ. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and revi- ew of the literature. Eur J Paediatr Neurol 2006; 10: 11-17.
16. Sankar R. Shah-Waardenburg syndrome. Dermatol Online J ; 14: 19. Tekin M, Arnos KS, Pandya A. Advances in hereditary deafness. Lancet 2001; 358:1082-1090.
17. Martucciello G, Ceccherini I, Levone M, Jasonni V. Pathogenesis of Hirschsprung disease. J Pediatr Surg 2000; 35: 1017-1025.
18. Heitz PU, Kommoinoth P. Biopsi diagnosis of Hirschsprung’ s Disease and related disorders. Curr Top Pathology 1990; 81: 257
19. Ziegler MM, Ross AJ, Bishop HC. Total intestinal aganglionosis: a new technique for prolanged survival. J Pediatr Surg 1987;22: 83.
20. Nishijima E, Kimura K, Tsugawa C, Muraji T. The colon patch graft procedure for extensive aganglionosis: long-term follow-up. J Pediatr Surg 1998; 33: 215-219.
21. Bonnet JP, Till M, Edery P,Attie T, Lyonnet S. Waardenburg- Hirschsprung disease in two sisters: a possible clue to the genetics of this association? Eur J Pediatr Surg 1996; 6: 245-248.
22. Celayir S, Ilce Z, Tekant G, Sarimurat N, Erdogan, E, Yeker D. Çocukluk Çağında Kısa Barsak Sendromu ile İlgili Deneyimleri- miz. Cerrahpaşa Tıp Dergisi 2001; 32: 100-104.
23. Coran AG, Spivak D, Teitelbaum DH. An analysis of the morbi- dity and mortality of shortbowel syndrome in the paediatric age group. Eur J Pediatr Surg 1999;9:228-230.
24. Ambani LM. Waardenburg and Hirschsprung syndromes. J Pedi- atr 1983; 102: 802.
25. Shim WK, Derieg M, Powell BR, Hsia YE. Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome. J Pediatr Surg ; 34: 1853-1855.