Haberland syndrome: Encephalocraniocutaneous syndrome presenting as status epilepticus

Abstract

We report a 5-year-old female child who presented with fever and status epilepticus with a history of global developmental delay, patchy alopecia over the frontal region, and bilateral dermolipoma in the conjunctiva and sclera. These findings are consistent with a diagnosis of encephalocraniocutaneous lipomatosis. This is a rare condition reported infrequently across the world. The child also had the specific neurological manifestations of this condition, specifically epilepsy presenting as status epilepticus.

Keywords

• encephalocraniocutaneous lipomatosis
• haberland syndrome
• status epilepticus