Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by a bile acid metabolic problem that causes cholesterol metabolites to accumulate in various organs. There are 2 types of CTX: traditional and spinal. The imaging characteristics are usual and allow for diagnosis confirmation. The brain's magnetic resonance imaging (MRI) reveals bilateral dentate nucleus lesions as well as modest white matter abnormalities. Tendon xanthomas (typically in the Achilles tendons on both sides) are a common finding. Cerebrotendinous xanthomatosis is a multidisciplinary diagnosis that must be made early to avoid neurologic injury and worsening. We show a CTX instance that has typical imaging and biology features.

Keywords

• MRI
• Cholestanol
• Tendons
• Metabolism