A Case of Encephalocraniocutaneous Lipomatosis
August 2002
in “
British journal of ophthalmology
”
Studysummary This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.
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The document describes a case of encephalocraniocutaneous lipomatosis (ECCL), a rare condition, in a 23-year-old Asian man who initially presented at age 16 with ocular abnormalities. The patient exhibited limbal dermoids, subcutaneous lipomas, scalp alopecia, cranial and facial asymmetry, intracranial lipomas, calcification, an arachnoid cyst, and bilateral optic disc colobomas—a finding not previously associated with ECCL. Despite the presence of these symptoms, surgery was not performed at the initial presentation, and no follow-up was arranged until the patient returned to the clinic at age 20. The case adds to the understanding of ECCL by reporting an association with optic disc colobomas.
