AI Article Synopsis
- The case discusses encephalocraniocutaneous lipomatosis (ECCL), a rare congenital condition marked by skin, eye, and brain abnormalities.
- Key features include eye tumours (epibulbar choristomas), specific skin lesions (nevus psiloliparus), and brain fat deposits (intracranial lipomas).
- A newborn presented with several symptoms, and brain imaging confirmed the diagnosis; children with similar skin and eye lesions should get brain scans to check for ECCL.
Article Abstract
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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| http://dx.doi.org/10.1016/j.ejpn.2006.11.002 | DOI Listing |
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