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

• Published in: Journal of clinical ultrasound 2024-11, Vol.52 (9), p.1456-1462
• Main Authors: Chiodi, Annalisa, Escolino, Maria, Di Mento, Claudia, Salvati, Vincenzo, Mazzone, Valerio, Esposito, Giorgia, Porcaro, Mauro, Esposito, Ciro
• Format: Article
• Language: English
• Subjects: Adolescent; Adolescents; Barium; Computed tomography; Diagnosis; Diagnosis, Differential; Diagnostic systems; Differential diagnosis; down syndrome; Down Syndrome - complications; Down's syndrome; Endoscopy; Eutrophication; Female; Humans; hypertrophic pyloric stenosis; Literature reviews; Pyloric Stenosis, Hypertrophic - complications; Pyloric Stenosis, Hypertrophic - diagnostic imaging; Pyloric Stenosis, Hypertrophic - surgery; pyloroplasty; Stenosis; Ultrasonography - methods; Vomiting; Weight loss
• ISSN: 0091-2751; 1097-0096; 1097-0096
• DOI: 10.1002/jcu.23777

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. Although typically observed during the neonatal period, hypertrophic pyloric stenosis may occur in adolescence. A comprehensive diagnostic work‐up, including ultrasonography, upper GI endoscopy, and CT, is recommended to confirm the diagnosis. If the endoscopic approach proves unsuccessful, Heineke–Mikulicz pyloroplasty can serve as safe and effective alternative treatment option.