Waardenburg Sendromu Ve Hirschsprung Hastalığı Birlikteliği: 10 Yıllık Deneyim

Year 2009, Volume: 3 Issue: 1, 18 - 23, 01.12.2009

İrfan Karaca Erdal Türk Hüseyin Evciler Ragıp Ortaç Aytaç Karkıner Günyüz Temir Esra Uçuk

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

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