MDLinxBizarre Discovery Stuns Doctors During Teen’s Surgery

A recent case study published in The New England Journal of Medicine documents the diagnosis of Rapunzel syndrome in a 16-year-old female patient at Massachusetts General Hospital. The patient presented with persistent abdominal pain, nausea, and vomiting for four weeks, with normal CT scans and blood work. After multiple evaluations for various gastrointestinal conditions, an esophagogastroduodenoscopy revealed a trichobezoar, leading to the rare diagnosis.

Key Points:

• Rapunzel syndrome manifests when ingested hair accumulates within the gastric mucosa, forming a mass that can extend into the small intestine, causing gastrointestinal obstruction and stomach lining irritation
• The condition typically develops in patients with trichotillomania, affecting 1-2% of the global population, with 50-70% of these patients exhibiting oral ritualistic behaviors
• Clinical presentation includes halitosis, abdominal pain, nausea, vomiting, and peritonitis, often mimicking common digestive disorders and potentially leading to nutrient deficiencies, particularly iron and vitamin B12
• Trichophagia occurs in 5-20% of trichotillomania cases, with trichobezoars present in approximately 1% of individuals with trichotillomania
• Initial diagnostic challenges arise from normal CT scans and blood work results, necessitating endoscopic evaluation for definitive diagnosis

HCN Medical Memo
Consider Rapunzel syndrome in cases of persistent unexplained gastrointestinal symptoms, particularly in young female patients with normal initial workup results. Early psychiatric evaluation may be warranted when this condition is suspected.

Rapunzel Syndrome Coverage