| Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. | |
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MedLine Citation:
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PMID: 17258481 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a case of encephalocraniocutaneous lipomatosis (ECCL), a rare congenital neurocutaneous syndrome, with cutaneous, ocular and neurologic malformations. The key features of ECCL are epibulbar choristomas, nevus psiloliparus, and intracranial lipomas. A full-term newborn presented at birth bilateral conjunctival tumours, right facial papulonodular lesions and an alopecic lesion consistent with lipoma on the right frontoparietal area. Brain imaging studies showed arachnoid cyst, enlarged lateral ventricle, cortical dysplasia, lipoma and leptomeningeal angiomatosis in the right hemisphere. The results were consistent with ECCL. Since ocular and skin involvement is a hallmark of the condition, children with epibulbar congenital lesions and skin lesions suggestive for ECCL should undergo a brain imaging study. |
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Authors:
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Maria J Valladares; Maria J Blanco; Fernando Lopez-Lopez; Francisco Gonzalez |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2007-01-26 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 11 ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2007 Mar |
Date Detail:
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Created Date: 2007-03-05 Completed Date: 2007-06-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 108-10 Citation Subset: IM |
Affiliation:
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Service of Ophthalmology, University Hospital of Santiago de Compostela, Santiago de Compostela, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Eye Diseases
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etiology* Functional Laterality* Humans Infant, Newborn Lipomatosis / complications* Magnetic Resonance Imaging / methods Male Neurocutaneous Syndromes / complications* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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