Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
Kauffman, Marcelo Andres; González Morón, Dolores; Consalvo, Damian; Kochen, Sara Silvia; Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup; Lippincott Williams; American Journal Of The Medical Sciences; 343; 4; 4-2012; 332-333
Kauffman, Marcelo Andres
González Morón, Dolores
Kochen, Sara Silvia
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic accumulation in multiple tissues. Progressive neuropsychiatric disturbances are a frequent manifestation of this disease. Although seizures have been frequently noticed as part of CTX manifestations, there have not been reports of CTX being diagnosed in drug-resistant epilepsy diagnostic workup nor of seizure response to chenodeoxycholic acid treatment. Here, the authors present a case of a drug-resistant epilepsy patient with a complex phenotype where a diagnosis of CTX was done and showed a significant reduction in seizure frequency after chenodeoxycholic acid supplementation. This report illustrates the importance of considering treatable neurometabolic disorders in epileptic patients showing complex phenotypes. © Copyright 2012 Southern Society for Clinical Investigation.