Neuroimaging Features of San Luis Valley Syndrome

A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysge...

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Bibliographic Details
Main Authors: Matthew T. Whitehead, Bonmyong Lee
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Radiology
Online Access:http://dx.doi.org/10.1155/2015/748413
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Summary:A 14-month-old Hispanic female with a history of double-outlet right ventricle and developmental delay in the setting of recombinant chromosome 8 syndrome was referred for neurologic imaging. Brain MR revealed multiple abnormalities primarily affecting midline structures, including commissural dysgenesis, vermian and brainstem hypoplasia/dysplasia, an interhypothalamic adhesion, and an epidermoid between the frontal lobes that enlarged over time. Spine MR demonstrated hypoplastic C1 and C2 posterior elements, scoliosis, and a borderline low conus medullaris position. Presented herein is the first illustration of neuroimaging findings from a patient with San Luis Valley syndrome.
ISSN:2090-6862
2090-6870