WWC Tsui, EYL Kan, WS Mak, STH Fung

Abstract

We illustrate the MRI findings of a child confirmed with 18q-deletion syndrome. Neurologic manifestations of this condition frequently involve the white matter, which is likely a result of haploinsufficiency of myelin basic protein as it is a major contributor to the formation of central nervous system myelin. In our case report, MRI demonstrated bilateral symmetric white matter T2 hyperintense signal with diminished gray-white matter differentiation suggestive of a delayed myelination pattern. Follow-up imaging 5 years later showed minimal progression of myelination.