29. National Pediatric Surgery Congress and 27. National Congress of The Egyptian Pediatric Surgical Association

Case presentation: A 2600 gram male baby born in the 38th week into the pregnancy from a marriage of the second degree was admitted to our hospital with a diagnosis of Prune Belly syndrome together with anal atresia and umbilical cord hernia. During a physical examination, it was detected that there was absence in the muscles of the abdominal  wall, umbilical cord hernia (UCH) and high type anal atresia, besides, the patient had bifid scrotum and bilateral anorchia.  In the abdomen USG test a left renal agenesis was detected. In the babygram there existed a lomber vertebrae  arcus defect. In the ECHO a patent foramen ovale was detected. Because of the UKH and anal atresia an operation was performed and during the operation the detected rectovesical fistula was excised, urinary wall primer was repaired and the intestine inside the pouch was placed into the abdomen. A colostomy was performed. A cystoscopy, shortly after the operation, was performed on the patient, who did not have a spontaneous urine exit and a urethral stricture appeared.  The voiding cystourethrogram, which was performed on the patient who was placed with a suprapubic cystostomy  catheter, resulted in an irregular contour of the bladder and the dimension was found to be large.  The blood screening test of the heel, which came back positive, was diagnosed with maple syrup urine disease (MSUD) as a result of a detailed enzyme examination.  The patient, who was established with a rise in the diameter of the head, hydrocephalus was diagnosed with trans-fontanel ultrasonography.  Grade III noncomminican hydrocephalus and a bilateral subarachnoid hemorrhage was determined in the 3rd and lateral ventricle with a brain MRI.  A caryotype analysis was performed of the patient and a 46xy was reported.

Discussion:Prune belly syndrome together with anal atresia was rarely reported before.  However, our current case VACTERL+prune belly syndrome+umbilical cordanal atresia with rectovesical fistula+hydrocephalus+MSUD combination is notified for the first time.  MSUD also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids.  While it can be fatal for untreated patients, it is possible for those with an arranged diet to lead normal lives.  We think that the association of VACTERL and MSUD is an association which should be researched.

Vaka Sunumu:İkinci derece akraba evliliğinden, 36. Gebelik haftasında dünyaya gelen 2600 gr. erkek bebek Prune Belly Sendromu beraberinde anal atrezi ve umblikal kord hernisi tanısı ile kliniğimize yatırıldı. Fizik muayenede karın duvarı kaslarında yokluk, umblikal kord hernisi (UKH) ve yüksek tip anal atrezi tespit edilen hastanın aynı zamanda bifid skrotumu ve bilateral anorşizmi mevcuttu. Yapılan batın USG’de sol renal agenezi tespit edildi. Babygram’da lomber vertebra arkus defekti mevcuttu. ECHO’da patent foramen ovale tespit edildi. UKH ve anal atrezi nedeni ile yapılan operasyonda  tespit edilen rektovezikal fistül eksize edildi, ve mesane duvarı primer onarıldı ve  kese içerisindeki barsaklar batına yerleştilidi. Kolostomi yapıldı.  Postoperatif erken dönemde spontan idrar çıkışı olmayan hastaya sistoskopi uygulanıldı ve üretral  striktür belirlendi. Suprapubik sistostomi kateteri yerleştirilen hastaya çekilen Voiding sistoüretrografi de mesane konturları düzensiz ve hacmi büyük olarak değerlendirildi. Topuk kanı tarama testi müspet  gelen hastada detaylı enzim incelemeleri sonucunda  Maple Şurup Üropatisi  (MŞU) tanısı da konuldu. Kafa çapında artış tespit edilen hastada transfontonel USG ile hidrosefali tespit edilidi. Beyin difizyon MRI ile 3. ve lateral ventrikülde grade III nonkominikan hidrosefali ve bilateral serebellar subaraknoid kanama tespit edildi. Hastanın karyotip analizi yapıldı 46XY rapor edildi.

Tartışma:Prune belly sendromu beraberinde anal atrezi daha önce çok nadir vakalar olarak bildirilmiştir. Ancak mevcut vakamız VACTERL+Prune belly sendrom+ umblikal kord hernisi+ rekto vezikal fistüllü  anal atrezi+  hidrosefali+ MŞU birlikteliği ilk kez bildirilmektedir. MŞU otozomal resesif geçiş gösteren dallı zincirli aminoasitlerin metabolik hastalığıdır. Tedavi edilmeyen hastalarda ölümcül olabilirken diyeti düzenlenen hastalar normal yaşam mümkündür. VACTERL MŞU birlikteliğinin incelenmesi gereken birliktelik olduğunu düşünüyoruz.