Work

Cerebrotendinous Xanthomatosis: Novel EEG finding of Fixation-Off Sensitivity

Year: 2025

Type: article

Abstract: • Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disease of bile synthesis. • Up to 30% of CTX patients have epilepsy. • We show Fixation-Off Sensitivity (FOS) and eye-closure induced seizures in CTX. Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive condition resulting in accumulation of cholesterol and cholestanol due to disrupted bile synthesis. Affected tissues include brain, tendons, skin, bone, lungs, and eyes. We report a clinical case presenting with epilepsy, which has been described, however with a particular EEG appearance that appears novel with Fixation-Off Sensitivity (FOS). The patient’s EEG showed significant buildup of abnormal slowing and frontally predominant generalized epileptiform discharges when her eyes were closed, and in contrast essentially normal tracings while eyes were open, eventually showing electrographic evolution and generating a bilateral tonic-clonic seizure. Genetic testing confirmed the diagnosis of CTX, and CTX-specific treatment with chonodeoxycholic acid was initiated in addition to anti-seizure medication.

Source: Epilepsy & Behavior Reports

DOI: 10.1016/j.ebr.2025.100770

Authors: Zachary Mills, James Thomas Houston, Ashley Thomas, Kelsey Shoenmeyer

Institution: University of Alabama at Birmingham

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,630