Table of Contents

HK J Paediatr (New Series)
Vol 23. No. 3, 2018

HK J Paediatr (New Series) 2018;23:250-253

Case Report

18q-Deletion Syndrome: Characteristic MRI Features

WWC Tsui, EYL Kan, WS Mak, STH Fung


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.

Keyword : 18q-deletion; Hypomyelination; Myelin basic protein

Abstract in Chinese


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