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Andres Kauffman M.,Centro Universitario Of Neurologia Jm Ramos Mejia | Andres Kauffman M.,CONICET | Gonzalez-Moron D.,Centro Universitario Of Neurologia Jm Ramos Mejia | Consalvo D.,Centro Universitario Of Neurologia Jm Ramos Mejia | And 2 more authors.
American Journal of the Medical Sciences | Year: 2012

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. Source


Kauffman M.A.,Centro Universitario Of Neurologia Jm Ramos Mejia | Kauffman M.A.,CONICET | Gonzalez-Moron D.,Centro Universitario Of Neurologia Jm Ramos Mejia | Consalvo D.,Centro Universitario Of Neurologia Jm Ramos Mejia | And 7 more authors.
Molecular Biology Reports | Year: 2012

Mitochondrial disorders are a frequent cause of neurological disability affecting children and adults. Traditionally, molecular diagnosis of mitochondrial diseases was mostly accomplished by the use of Sanger sequencing and PCR-RFLP. However, there are particular drawbacks associated with the use of these methods. Recent multi-disciplinary advances have led to new sequencing methods that may overcome these limitations. Our goal was to explore the use of a next generation sequencing platform in the molecular diagnosis of mitochondrial diseases reporting our findings in adult patients that present with a clinical-pathological diagnosis of a mitochondrial enceph-alomyopathy. Complete genomic sequences of mitochondrial DNA were obtained by 454 massive pyrosequencing from blood samples. The analysis of these sequences allowed us to identify two diagnostic pathogenic mutations and 74 homoplasmic polymorphisms, useful for obtaining high-resolution mitochondrial haplogroups. In summary, molecular diagnosis of mitochondrial disorders could be efficiently done from readily accessible samples, such as blood, with the use of a new sequencing platform. © 2012 Springer Science+Business Media B.V. Source

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