John Libbey Eurotext

Presentation of an unusual patient with Lafora disease Volume 14, issue 1, March 2012


See all figures

Division of Neurology, Istanbul University Cerrahpaşa Medical Faculty, Division of Genetics and Molecular Biology, Boğaziçi University, Division of Pathology, Samatya Educational and Research Hospital, Istanbul, Turkey

Lafora disease is a rare, fatal, autosomal recessive progressive myoclonic epilepsy. The condition is characterised by seizures, myoclonus and dementia. In this case report, a patient who presented with generalised tonic-clonic seizures at the age of 30 is discussed. Until the age of 48, the patient did not have myoclonic jerks or ataxia clinically, but had well controlled seizures. He developed dementia and late extrapyramidal signs. Axillary skin biopsy revealed typical Lafora inclusion bodies. Genetic analysis showed a mutation in the EMP2B gene. To our knowledge, this is the first description of a patient suffering from a Lafora disease without disabling myoclonus and ataxia but rather rare seizures, extrapyramidal signs, and dementia.