| Rud syndrome with focal cortical dysplasia: A case report. | |
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MedLine Citation:
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PMID: 21074957 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 (3Tesla 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. |
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Authors:
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Sara Marconi; Gaetano Cantalupo; Federica Marliani; Francesco Toni; Giuseppe Capovilla; Elena Lorenzetti; Antonino Romeo; Roberto Michelucci; Guido Rubboli |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2010-11-11 |
Journal Detail:
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Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: Brain Dev. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-15 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Neurological Sciences, Institute of Neurology, University of Bologna, Via Ugo Foscolo 7, 40131 Bologna, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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