Sindrome di Rud: Aspetti clinici, neurofisiologici e neuroradiologici di una paziente in età adulta

We describe the clinical, neurophysiological, neuroradiological aspects of a patient suffering from Rud Syndrome, a neurocutaneous disease characterized by epilepsy, mental retardation, hypergonadotrophic hypogonadism, congenital ichthyosis and retinitis pigmentosa. A 30-year-old patient was diagnosed since the age of 4 suffering from Rud Syndrome. She underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological evaluation and neuroimaging study (3 Tesla brain MRI). The clinical and instrumental characteristics in our patient satisfy the principal diagnostic criteria that characterize this disease. In our patient, epileptic seizure suggest a "generalized" onset; however, a focal cortical dysplasia has been detected by brain MRI; no previous description of malformation of cortical development has been reported in Rud Syndrome.