| A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). | |
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MedLine Citation:
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PMID: 20232658 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure. |
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Authors:
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Zahari Iv Zahariev; Marieta V Peycheva; Hristo P Dobrev |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Folia medica Volume: 51 ISSN: 0204-8043 ISO Abbreviation: Folia Med (Plovdiv) Publication Date: 2009 Oct-Dec |
Date Detail:
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Created Date: 2010-03-17 Completed Date: 2010-04-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2984761R Medline TA: Folia Med (Plovdiv) Country: Bulgaria |
Other Details:
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Languages: eng Pagination: 46-8 Citation Subset: IM |
Affiliation:
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Department of Neurology, Medical University, Plovdiv, Bulgaria. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Biopsy Diagnosis, Differential Epilepsy / diagnosis*, etiology Female Humans Lipomatosis / complications, diagnosis* Magnetic Resonance Imaging Neurocutaneous Syndromes / complications, diagnosis* Skin / pathology* |
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