title: Rud syndrome with focal cortical dysplasia: a case report.
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.
authors.affiliation: Department of Neurological Sciences, Institute of Neurology, University of Bologna, Via Ugo Foscolo 7, 40131 Bologna, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Marconi
authors.forename: Gaetano
authors.initials: G
authors.lastname: Cantalupo
authors.forename: Federica
authors.initials: F
authors.lastname: Marliani
authors.forename: Francesco
authors.initials: F
authors.lastname: Toni
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.forename: Elena
authors.initials: E
authors.lastname: Lorenzetti
authors.forename: Antonino
authors.initials: A
authors.lastname: Romeo
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Guido
authors.initials: G
authors.lastname: Rubboli
mesh_terms: D000328:Adult; D004569:Electroencephalography; D004576:Electromyography; D004827:Epilepsy / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000473:pathology / Q000503:physiopathology*; D007057:Ichthyosis / Q000473:pathology / Q000503:physiopathology*; D008607:Intellectual Disability / Q000473:pathology / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000473:pathology / Q000503:physiopathology*