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Bilateral ocular involvement in encephalocraniocutaneous lipomatosis
Maria J Valladares1, Maria J Blanco, Fernando Lopez-Lopez
1Service of Ophthalmology, University Hospital of Santiago de Compostela, Santiago de Compostela, Spain.
Summary
Encephalocraniocutaneous lipomatosis (ECCL) is a rare syndrome presenting with skin, eye, and brain abnormalities. Early brain imaging is crucial for children with suggestive skin and eye lesions to diagnose ECCL.
Area of Science:
- Neuroscience
- Genetics
- Dermatology
Background:
- Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome.
- Key features include epibulbar choristomas, nevus psiloliparus, and intracranial lipomas.
Observation:
- A full-term newborn presented with bilateral conjunctival tumors, facial lesions, and a scalp lipoma.
- Neurologic examination revealed an arachnoid cyst, enlarged lateral ventricle, cortical dysplasia, lipoma, and leptomeningeal angiomatosis.
Findings:
- The patient's clinical presentation and imaging results were consistent with a diagnosis of ECCL.
- The syndrome involves a spectrum of cutaneous, ocular, and neurological malformations.
Implications:
- Ocular and skin manifestations are characteristic of ECCL.
- Children with epibulbar congenital lesions and suggestive skin findings warrant brain imaging for ECCL diagnosis.
