Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.

Background And Purpose: Late-onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67-year-old gentleman who presented with a 3-month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end-stage chronic kidney disease.

Methods: Extensive work-up including serological, cerebrospinal fluid, magnetic resonance imaging and electroencephalography was performed.

Therapeutic strategies for treating epilepsy during pregnancy.

Introduction: Counseling for women with epilepsy of childbearing potential surrounding pregnancy issues is of the utmost importance and should be done when antiepileptic medications are prescribed and reviewed regularly at clinic visits. Physicians must be familiar with risks associated with antiepileptic medication, and endeavor to minimize risks to a fetus while selecting best medications for epilepsy type.

Areas Covered: The authors discuss the role of folic acid, updated evidence relating to the occurrence of major congenital malformations and neurocognitive risks associated with antiepileptic medication.