Case series discusses imaging findings in 8 children with encephalocraniocutaneous lipomatosis, highlighting the disorder's complex manifestations.
Encephalocraniocutaneous lipomatosis (ECCL) is an extremely rare congenital disorder that classically manifests with a triad of ipsilateral CNS, dermatologic, and ophthalmic involvement. Patients with the disease present with highly variable signs and symptoms with associated physical, neurologic, and developmental complications. The goal of this article was to expand the current, predominantly case report‐based literature on ECCL by discussing the spectrum of imaging findings in a series of 8 children with a confirmed diagnosis of ECCL.
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Macnojia et al. (2025) studied this question.
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