A Pictorial Report - Early paediatric presentation of Peutz-Jeghers syndrome (PJS)

Abstract

Early paediatric presentation of Peutz–Jeghers syndrome (PJS) is rare but should be considered in children with recurrent unexplained gastrointestinal symptoms. We present a 6-year-old boy who presented with intermittent, non-bilious vomiting since 1-year-old, which progressively worsened over two months with associated colicky pain. Initial imaging (radiograph, fluoroscopy) may mimic duodenal stenosis, highlighting the importance of multimodality assessment. Saline-aid ultrasound may enhance the detection of intraluminal lesions. Modified CT enterography can screen small and large bowel polyps for preoperative planning. This case highlights the imaging findings and surgical management of paediatric PJS and underscores the importance of family history and early multimodality imaging for diagnosis.

Keywords Case report, Peutz-Jeghers syndrome, pediatric polyposis, duodenal obstruction, enterography, saline-aid ultrasound.