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

Translated title of the contribution: Rud Syndrome: Clinical, neurophysiological and neuroradiological aspects in an adult patient

S. Marconi, G. Rubboli, G. Cantalupo, F. Pinardi, L. Volpi, P. Riguzzi, A. Romeo, G. Capovilla, E. Lorenzetti, C. A. Tassinari, R. Michelucci

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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.

Original languageItalian
Pages (from-to)147-148
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number136-137
Publication statusPublished - May 2008

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ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Marconi, S., Rubboli, G., Cantalupo, G., Pinardi, F., Volpi, L., Riguzzi, P., Romeo, A., Capovilla, G., Lorenzetti, E., Tassinari, C. A., & Michelucci, R. (2008). Sindrome di Rud: Aspetti clinici, neurofisiologici e neuroradiologici di una paziente in età adulta. Bollettino - Lega Italiana contro l'Epilessia, (136-137), 147-148.