[Show abstract][Hide abstract] ABSTRACT: We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological evaluation and neuroimaging study (3 Tesla brain MRI). Interestingly, brain MRI unveiled a malformation of cortical development, never reported previously in RS. Although seizure semiology and EEG features could not provide clear cut information suggesting a focal onset, the role of this MRI finding in the genesis of the epileptic seizures cannot be ruled out. The finding of a focal cortical dysplasia in RS might be related to genetic abnormalities affecting the development of both epidermis and neural structures with the same embryological origin.
No preview · Article · Nov 2010 · Brain & development
[Show abstract][Hide abstract] ABSTRACT: 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.
No preview · Article · May 2008 · Bollettino - Lega Italiana contro l'Epilessia