DR. ANKITA SINGH

DR. JAYA KAUSHIK, RAKESH SHETTY

Abstract

We report a case of 4‑year‑old male child who was brought with a history of a fleshy red mass in both eyes and abnormally shaped eyelids since birth. On evaluation child had delayed developmental milestones and temporo parietal alopecia and focal areas of hyperpigmented skin over the face, chest, back, and both upper limbs. Ocular evaluation revealed skin tags over the upper eyelids, epibulbar dermoid along with upper lid coloboma, and microcornea in both eyes. He had distorted temporoparietal bones. MRI brain revealed generalized cerebral atrophy with prominent Virchow–Robin spaces and enlarged ventricular system but atypically normal corpus callosum. He was diagnosed as an atypical variant of Delleman syndrome (a rare congenital disorder involving eyes, skin, and brain). A concerted multidisciplinary treatment approach and long‑term neurological follow‑up are recommended in these patients.