Case 239: Cerebrotendinous Xanthomatosis

Abstract

History A 63-year-old man with learning difficulties presented to the Accident and Emergency Department with right ankle pain after an inversion injury and underwent plain radiography. The patient had developed normally until his teenage years, at which point he experienced cognitive regression. He experienced swallowing difficulties, tinnitus, and fecal incontinence, and he had undergone cataract surgery at the age of 20 years. He also had a small nodule on the volar surface of his right ring finger. Magnetic resonance (MR) imaging of the brain and the right ankle had been performed 3 years previously. Routine biochemistry (full blood count and renal function) results were normal. Total cholesterol level was 3.6 mmol/L (normal, <5.0 mmol/L). The patient had three siblings who had the same condition, with one having died in childhood.