To highlight a case of Rapunzel syndrome presenting as unexplained weight loss and abdominal symptoms in a pediatric patient, emphasizing the role of psychiatric factors.
Key Findings:
The patient had a significant intragastric filling defect consistent with a trichobezoar.
Rapunzel syndrome was confirmed post-surgery, characterized by a hair mass extending into the small intestine.
The patient had underlying ADHD and sensory aversion to food textures, contributing to diagnostic delay.
Her weight declined from the 60th to the 1st centile on the UK growth chart.
Interpretation:
Rapunzel syndrome can present with weight loss and abdominal symptoms in children, necessitating consideration even without classic psychiatric features, highlighting the need for awareness of underlying psychiatric conditions.
Limitations:
The initial ultrasound was limited by bowel gas and did not provide clear diagnostic information.
The case highlights a diagnostic delay due to the patient's psychiatric background, which is often overlooked.
Conclusion:
Early recognition of Rapunzel syndrome is crucial in pediatric patients with unexplained weight loss and abdominal symptoms to prevent complications such as obstruction or perforation.
Narrative review linked lower vitamin D levels to greater myopia risk and higher omega-3 intake to lower risk, though outdoor exposure may explain the vitamin D association.
FOXC1 duplications were the second most common monogenic finding among genetically solved juvenile open-angle glaucoma cases in one registry, supporting the use of copy-number variant analysis in early-onset glaucoma testing.
