P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases

Abstract

Objectives Encephalocraniocutaneous lipomatosis (ECCL) is rarely congenital neurocutaneous disorder. It's described by Haberland in 1970 and also called Haberland Syndrome. It's characterized by unilateral skin lesions such as lipomas, connective tissue nevi and alopecia with ipsilateral ophthalmological and cerebral malformations with or without psychomotor and mental retardation and early-onset seizure. Methods We present 3 cases (2 boy, 1 girl) with ECCL. All patients socio demographic, clinical and neuroradiological data was collected. Results Case I: A 15-year-old girl, her parents are second degree relatives. At the age 5 months she developed generalized tonic-clonic seizures and which continued until 12-year-old age. She has severe psychomotor retardation: she was walking at 5 years old, speaking at 4 years old. Case II: A 5-year-old boy, he developed seizure at first day of life and became refractory epilepsy. He couldn't walk and unable make sentence. Case III: A 1.3-year-old boy was born with non-consanguineous marriage. He developed seizure at the age of 9-months, his seizure is seconder generalized. He couldn't walk but he crawling. All patients have unilateral left sided alopecia with ipsilateral ocular lesion and the cerebral lesion. All patients were born at term, their past history and family history were unremarkable. Their electroencephalograms showed hemispheric asymmetry. All of the cases had right sided mild to moderate hemiparesis. One patient also has spinal lipoma. Conclusions We describe 3 additional cases with ECCL which is the extremely rare neurocutaneous syndrome. We suggest that patients who have ocular lesion and ipsilateral skin lesion must be examined for ECCL.