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Case Reports in Radiology
Volume 2014, Article ID 413574, 4 pages
Case Report

Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome

Department of Radiology, Children’s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA

Received 22 April 2014; Accepted 4 July 2014; Published 13 July 2014

Academic Editor: Atsushi Komemushi

Copyright © 2014 Matthew T. Whitehead and Gilbert Vezina. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.