Annular pancreas in two sisters: The story goes on

Congenital stenosis of the duodenum appears in about 1 out of 10,000 newborns, thus being the most common anomaly for which surgical intervention is needed (Morris et al., 2018). Besides atresia and duodenal web, annular pancreas is one of the major etiological factors for duodenal stenosis (Treider et al., 2022). To the best of our knowledge, only few families have been reported with recurrent cases of duodenal stenosis due to partial or complete annular pancreas with both horizontal and vertical inheritance (Etienne et al., 2012). In 1995, a family with two sisters suffering from annular pancreas was published in this journal (Claviez et al., 1995). Herein we report on another case of gastrointestinal malformation with pancreatic involvement in this family. During the second pregnancy of one of the previously reported sisters, aged 29 years, routine ultrasound examination revealed polyhydramnios and intestinal “double bubble sign,” highly suggestive of duodenal stenosis. No further anomalies were detected during prenatal diagnostics. A girl was born at 37 weeks of gestational age (birth weight: 3000 g (47th percentile), length: 51.5 cm (77th percentile), head circumference: 33 cm (23rd percentile)). APGAR score (8/9/10), umbilical arterial pH and newborn screening were unremarkable. Postnatal imaging confirmed duodenal stenosis (Figures 1 and 2). Laparotomy on the third day of life showed highly stenotic duodenum with blind ends on both sides. In contrast to her mother and aunt, no classic annular pancreas was present, but branches of pancreatic cells were spread over the stenotic region. Also, incomplete malrotation of the ascending and part of the transverse colon were identified with no further stenosis. Duodeno-duodenostomy allowed definitive passage of the duodenum. In the affected mother, exome-based sequencing of genes associated with the phenotype, including copy number variant (CNV) analysis with special emphasis on chromosome region 6q24.2 (Markljung et al., 2012) revealed no clinically relevant abnormality. The extent to which genetic causes may be involved in the gastrointestinal findings in this family remains unclear. There were no clinical findings suggestive of other genetic disorders known to be associated with congenital duodenal obstruction and pancreatic involvement, such as heterotaxia syndrome (Bishop et al., 2020). Study design: Ann Carolin Longardt, Philipp Elischer, Almuth Caliebe, Alexander Claviez. Genetics and data analysis/interpretation: Almuth Caliebe, Inga Nagel. Writing of the manuscript: Ann Carolin Longardt, Philipp Elischer, Almuth Caliebe, Robert Bergholz, Martin Schrappe. Critical proof reading of the manuscript: all authors. We thank Dr. Jörg Detlev Moritz, MD (Dept of Pediatric Radiology, UKSH, Kiel) for kindly providing the radiographic and ultrasound images. The data that support the findings of this study are available from the corresponding author upon reasonable request.