No abstract

A 60-year-old woman with cognitive developmental delay presented with childhoodonset 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.ECCL, also called Haberland or Fishman syndrome, is a rare congenital neurocutaneous disorder characterized by ectodermal dysgenesis with unilateral cutaneous, ocular, and brain involvement. 1,2 Neuroimaging features include intracranial lipomatosis, leptomeningeal enhancement, polymicrogyria, and enlargement of lateral ventricle. 2 Differential diagnosis includes sebaceous naevus syndrome, Proteus syndrome, oculocerebrocutaneous syndrome, Sturge-Weber syndrome, and hemimegalencephaly. 1