Delleman–Oorthuys syndrome: A case report of an atypical variant

Abstract

A 4-year-old male child, born to nonconsanguineous parents, was brought with a history of a fleshy red mass in both eyes and abnormally shaped eyelids since birth. Evaluation revealed delayed developmental milestones and temporoparietal alopecia over the right side along with 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 deformed temporoparietal bones on both sides. Magnetic resonance imaging 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 and comprising orbital cyst, eyelid colobomas, skin appendages, polymicrogyria as well as characteristic mid-hindbrain abnormalities). Multidisciplinary treatment approach and long-term neurological follow-up are recommended in these patients.

Keywords

• delleman–oorthuys syndrome
• enlarged ventricular system
• epibulbar dermoid
• eyelid coloboma
• temporal alopecia