Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis.

摘要

Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder, which usually presents with diverse systemic manifestations (ophthalmologic, cardiac, and dermatologic symptoms), and neurological dysfunction, such as neuropsychiatric symptoms, cognitive decline, and ataxia. Epilepsy is rarely seen as the main neurological manifestation of CTX. Herein, we describe a middle-aged woman with epilepsy since childhood as the only neurological symptom associated with the classical systemic manifestations of CTX.