An unusual cause of Achilles tendon xanthoma

Tendinous xanthomas are often thought to be pathognomonic for familial hypercholesterolemia. In this report, we present the case of a young man with a normal lipid profile and Achilles tendon xanthoma. Biochemical and genetic studies confirmed the diagnosis of cerebrotendinous xanthomatosis in this patient. Cerebrotendinous xanthomatosis is a rare autosomal recessive disease associated with xanthoma in tendons and the brain as well as progressive neurologic deficits. Unfortunately, this rare form of reversible dementia is thought to be underdiagnosed. Early diagnosis and treatment of this disease with chenodeoxycholic acid is essential and has been shown to greatly improve the patient's symptoms and prognosis.