Encephalocraniocutaneous Lipomatosis Syndrome in a Child: Association with Multiple High Flow Cerebral Arteriovenous Fistulae

Abstract

We describe the case of a three-year-old Danish boy born at term by Cesarean due to cardiac insufficiency in the last trimestre of intra-uterine life for which he is being treated with cardiac drugs. At birth, he was noted to have bilateral ocular malformations on the upper eyelids, and diffuse scalp lipoma and alopecia. Due to the retarded growth (score-3D) he had a MRI and angiography which demonstrated a high flow fistula on the basilar tip artery and another one on the MCA branch treated by endovascluar approach. Intracranial arachnoid cysts, dysplastic cortex, ventricular enlargement and lipoma were noted too, establishing the diagnosis of Encephalocraniocutaneous Lipomatosis Syndrome, a rare disease, especially in bilateral presentation. To our knowledge this is the first observation of ECCL associated with intracranial pial arteriovenous fistulas.