Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder

Abstract

Encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous syndrome is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation, calcification, lipomas of skull, eye, heart, connective tissue nevi along with alopecia. This case highlights the condition in a 4 day old male child who presented with bilateral red eye with mass lesion. Complete evaluation showed conjunctival hyperemia, lipodermoids with corneal vascularisation and healed choroiditis patches OD. Systemic work up revealed ipsilateral nevus psiloliparus, and undescended testis with megalourethra. Radiologic evaluation showed revealed diffuse cerebral atrophy, subarachnoid cyst in right temporal region along with dysplastic cortex, enlargement of both ventricular system and extra-axial CSF spaces along with marked atrophy of right antero-inferior temporal parenchyma. Child was managed conservatively and over a one year follow up the ocular condition remained unchanged with OU limbal lipodermoids and no conjunctival congestion.