Dr. Kirti Singh, K04958, Dr. Mainak Bhattacharyya, Dr. Keerti Wali, Dr. Ankush Mutreja
Encephalocraniocutaneous lipomatosis (ECCL) characterized by profound mental retardation, unilateral temporofrontal lipomatosis, ipsilateral cerebral & leptomeningeal lipomatosis, cerebral malformation, lipomas of skull, eye, heart, connective tissue nevi along with alopecia seen in a 4 day old male child managed as ophthalmia neonatorum on account of bilateral, chemosed red eye at birth. Examination showed fixed dilated pupil, corneal vascularisation , pigmented central choroiditis OD. Lack of response to antibiotic therapy led us to do a systemic work up including imaging, which revealed diffuse cerebral atrophy especially right antero-inferior temporal parenchyma with subarachnoid cyst, enlarged ventricles along with right sided nevus psiloliparus, undescended testis with megalourethra. The conjunctival hyperemia slowly regressed while conjunctival lipomas persisted. Over the course of one year child had delayed milestones, seizures and retained good vision in left eye.