title: Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup.
abstract: 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.
authors.affiliation: Consultorio de Neurogenética, Centro Universitario de Neurología JM Ramos Mejia, Buenos Aires, Argentina. marcelokauffman@conicet.gov.ar
authors.forename: Marcelo Andrés
authors.initials: MA
authors.lastname: Kauffman
authors.forename: Dolores
authors.initials: D
authors.lastname: Gonzalez-Morón
authors.forename: Damián
authors.initials: D
authors.lastname: Consalvo
authors.forename: Silvia
authors.initials: S
authors.lastname: Kochen
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*