TY - JOUR
T1 - Sindrome di Rud
T2 - Aspetti clinici, neurofisiologici e neuroradiologici di una paziente in età adulta
AU - Marconi, S.
AU - Rubboli, G.
AU - Cantalupo, G.
AU - Pinardi, F.
AU - Volpi, L.
AU - Riguzzi, P.
AU - Romeo, A.
AU - Capovilla, G.
AU - Lorenzetti, E.
AU - Tassinari, C. A.
AU - Michelucci, R.
PY - 2008/5
Y1 - 2008/5
N2 - 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.
AB - 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.
KW - Congenital ichthyosis
KW - Epilepsy
KW - Focal cortical dysplasia
KW - Hypergonadotrophic hypogonadism
KW - Mental retardation
KW - Rud Syndrome
UR - http://www.scopus.com/inward/record.url?scp=51849106907&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=51849106907&partnerID=8YFLogxK
M3 - Articolo
AN - SCOPUS:51849106907
SP - 147
EP - 148
JO - Bollettino - Lega Italiana contro l'Epilessia
JF - Bollettino - Lega Italiana contro l'Epilessia
SN - 0394-560X
IS - 136-137
ER -