Clinical And Neuroimaging Features Of Encephalocraniocutaneous Lipomatosis
A 60-year-old female with cognitive developmental delay presented with seizures that began in childhood and skin abnormalities affecting the left side of her face and eyes. Physical examination revealed alopecia, a lipomatous nevus (naevus psiloliparus), subcutaneous fat accumulation, and exophthalmos (Figure 1). Brain MRI showed intracranial lipomatosis and left-sided hemimegalencephaly (Figure 2), confirming the diagnosis … Read more