Unusual late-onset hypertrophic pyloric stenosis in an adolescent girl with down syndrome: Case report and review of the literature

J Clin Ultrasound. 2024 Nov-Dec;52(9):1456-1462. doi: 10.1002/jcu.23777. Epub 2024 Aug 3.

Abstract

A 16-year-old girl with down syndrome came to our attention for recurrent postprandial vomiting and significant weight loss (>5 kgs). Diagnostic assessment (barium swallow study, ultrasonography, and CT) confirmed hypertrophic pyloric stenosis (HPS). Initial attempt with endoscopic dilation was not successful. The patient underwent Heineke-Mikulicz pyloroplasty. Full oral feeding was achieved by Day 7 postoperatively. At 6-month follow-up, the patient reported relief of symptoms, normal feeding habits and substantial weight gain. HPS should be considered in the differential diagnosis of recurrent vomiting, regardless of age. A comprehensive diagnostic work-up, including ultrasonography, endoscopy, and CT, is recommended to confirm the diagnosis.

Keywords: adolescent; down syndrome; hypertrophic pyloric stenosis; pyloroplasty; vomiting.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Down Syndrome* / complications
  • Female
  • Humans
  • Pyloric Stenosis, Hypertrophic* / complications
  • Pyloric Stenosis, Hypertrophic* / diagnostic imaging
  • Pyloric Stenosis, Hypertrophic* / surgery
  • Ultrasonography / methods