Urbach-Wiethe Disease and Intractable Epilepsy

Abstract

Urbach-Wiethe disease (UWD) or lipoid proteinosis is a rare, autosomal recessive, systemic disease, characterized by the deposition of hyaline material in the skin, mucosae and bilateral calcifications of mesial temporal lobe. UWD had been diagnosed in a 22-year-old female patient according to the typical clinical, light microscopic and ultrastructural findings, 4.5 years ago. One of her sisters had the same disease and the parents were cousins. The patient had partial seizures, originating from temporal lobe, repeating 2-6/monthly, since the age 17. Cranial computed tomography demonstrated bilateral mesial temporal lobe calcifications (right larger than (left) and repeated scan did not show any change after 4 years. Interestingly magnetic resonance imaging missed these lesions. The sister, who did not have epilepsy, showed symmetric lesions in the same regions. The neuropsycbological testing demonstrated memory failure, prominent in recall and in visual memory processes. A SPECT scan disclosed right mesial temporal hypoperfusion. The patient used carbamazepine (1200 mg), diphenylhydantoin (300 mg) and phenobarbital (200 mg) separately and then in coınbinations, but did not show any significant cbange in seizure frequency in the 4 year follow-up period. Our case demonstrates that,UWD can cause intractable epilepsy. This rare condition must be kept in mind in epileptic patients with skin lesions and hoarseness.