Clinical and Neuroimaging Features of Encephalocraniocutaneous Lipomatosis

A 60-year-old woman with cognitive developmental delay presented with childhood-onset seizures and cutaneous abnormalities evolving over the left hemiface and eye. Examination showed alopecia, naevus psiloliparus, subcutaneous fat accumulation, and proptosis (Figure 1). Brain MRI disclosed intracranial lipomatosis and left hemimegalencephaly (Figure 2), and encephalocraniocutaneous lipomatosis (ECCL) was confirmed.

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