WOFAPS 2025 8th World Congress of Pediatric Surgery

Gülbin Yazgan ¹, Ayşenur Celayir ¹, Nevzat Aykut Bayrak ², Ali Karaman ³, Oya Demirci ⁴

¹ University of Health Sciences, Turkey. Istanbul Zeynep Kamil Maternity and Children Diseases Health Training and Research Center, Department of Pediatric Surgery,
² University of Health Sciences, Zeynep Kamil Maternity and Children’s Diseases Health Training and Research Center, Pediatric Gastroenterology
³ University of Health Sciences, Zeynep Kamil Maternity and Children’s Diseases Health Training and Research Center, Medical Genetics, İstanbul, Türkiye
⁴ University of Health Sciences, Istanbul Zeynep Kamil Maternity and Children’s Diseases Health Training and Research Center, Department of Perinatology, Istanbul

Introduction: Isolated gallbladder agenesis can have an uneventful course.In this study, two cases of prenatal gallbladder agenesis and duodenal atresia,born two years apart as sisters,are presented in order to draw attention to Mitchell-Riley Syndrome,characterized by duodenal atresia,gallbladder agenesis,exocrine pancreatic insufficiency,and neonatal diabetes,as well as its fatal course.

Cases Presentation: The first-living-male-child born of a-second-degree consanguineous marriage,aged 3,had Type-1-Diabetes.The second and third female babies had prenatal gallbladder agenesis and duodenal atresia.

The first and second female babies were born at [37+3weeks according to SAT,27+4weeks according to US,1230grs by C/S] and [37+5weeks according to SAT,32+4weeks according to US,1300grs by C/S],respectively.Hypoglycemia attacks were regulated with fluid therapy in the first postnatal days,and when they were operated on the third-day,both of their livers appeared normal,no gallbladder was observed,and they had annular pancreases.

Type-1(Windsock)duodenal atresia was repaired.After transitioning to full-dose enteral feeding,fasting/feeding hepatobiliary ultrasounds did not show a gallbladder,and no dilation was observed in the intrahepatic bile ducts.Both infants had colic stools,and pancreatic exocrine dysfunction was confirmed with a pancreatic elastase level of 3 mcg/g in the stool.In the first patient,opisthotonus developed on the 20th postoperative day, and in the second,it developed on the 27th day.The cause of opisthotonus could not be determined during neurological evaluations,and both infants were transferred to the pediatric intensive care unit.Both were lost at the fourth month.

Genetic testing of both babies and the father revealed a duplication of approximately 506.8 kb at the Xq27.3 region;this region includes the SPANXN1 gene,and the clinical significance of this finding is uncertain(VUS).

Conclusions: The first brother had Type-I diabetes,prenatal gallbladder agenesis and duodenal atresia,and two sisters had fatal postnatal exocrine pancreas disorder and hypoglycemia attacks,which were consistent with the Mitchell-Riley Syndrome clinic.The risk of recurrence of these rare syndromes increases in consanguineous marriage pregnancies.Prenatal follow-up and genetic counseling are important for early diagnosis.