Benign myoclonic epilepsy in infancy with neurofibromatosis type Ⅰ

A case of benign myoclonic epilepsy in infancy with neurofibromatosis type Ⅰ

The association of neurofibromatosis with benign myoclonic epilepsy in infancy is a extremely rare condition. We experienced of benign myoclonic epilepsy with neurofibromatosis type Ⅰ in a 4 month-old male patient, who had recurrent myoclonic attacks, relative delay of psychomotor development. Hypsarrhythmic EEG pattern. normal brain MRI, with multiple Cafe-au-lait spots. His mother and her relatives also have numerous Cafe-au-lait spots and neurofibromas. He was managed with valproic acid, and seizures are easily controlled but the relative delay of psychomotor developments are not caught-up the growth. We report this case and brief review of literatures.