Small intestinal xanthomas are uncommon and exhibit a striking endoscopic appearance that may give rise to a wide differential diagnosis. The aetiology of these lesions is not well understood and, unlike their cutaneous counterparts, an association with hyperlipidaemia has not been identified. We describe the case of a young girl with multiple duodenal xanthomas and a pre-existing diagnosis of CHILD syndrome, an X- linked disorder due to a mutation in the cholesterol synthesis pathway.

A 3-year-old girl with background of CHILD syndrome was referred for gastroenterology opinion due to persisting dysphagia for solids with frequent vomiting. Nutrition was normal with no evidence of malabsorption. Oesophagogastroduodenoscopy was performed which revealed normal oesophagus and stomach. White plaque-like lesions were noted throughout the duodenum (figure …