Characteristic imaging findings in encephalocraniocutaneous lipomatosis.

Our patient was worked up for mild developmental delay associated with focal scalp alopecia at age 6, and was diagnosed with encephalocraniocutaneous lipomatosis (also known as Haberland or Fishman syndrome), a rare neurocutaneous syndrome characterized by skin lesions (most commonly focal alopecia with or without underlying lipoma), ocular lesions, and CNS anomalies. CNS anomalies are usually seen ipsilateral to the skin lesions, including cerebral hemiatrophy (figure 1A), intracranial and spinal lipomas, arachnoid cysts (figure 1B), brain malformation, and vascular defects. Leptomeningeal lipomatosis (figure 2A) is an uncommon finding, but can be characteristic. Vessel anomalies include leptomeningeal angiomatosis, variations in arterial caliber (figure 2B), and excessive vessels. Figure 1 Brain MRI