ABSTRACT

Lafora body disease is a type of progressive myoclonic epilepsy with poor prognosis, characterized by myoclonus, seizures, dementia and cerebellar ataxia. In the present report, two cases of Lafora body disease, with different clinical courses and confirmed by axillary skin biopsy are presented. Both cases presented with myoclonus and generalized tonic clonic convulsions. Although her complaints continued since six months, a significant mental deterioriation was found in the first patient, a 23-year old female, and during the six months follow-up period, her myoclonus aggravated and cerebellar and extrapyramidal signs were added to the clinical picture. The patient died after one year from the initiation of her complaints. The second case, a 16-year old female, complained of partial seizures and myoclonus since three years, subsequently partial seizures and absence were also observed. Seizures were partially controlled by 2000 mg/day levetiracetam added to ongoing therapy with valproate. There was no significant mental impairment. By the review of the clinical courses of these two cases, it was concluded that the progression of Lafora body disease may vary between different patients.