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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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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author Matthew T. Whitehead
Bonmyong Lee
author_facet Matthew T. Whitehead
Bonmyong Lee
author_sort Matthew T. Whitehead
collection DOAJ
description 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.
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spelling doaj-art-2c370555642a4728827fca1122bd97262025-08-20T02:07:38ZengWileyCase Reports in Radiology2090-68622090-68702015-01-01201510.1155/2015/748413748413Neuroimaging Features of San Luis Valley SyndromeMatthew T. Whitehead0Bonmyong Lee1Department of Radiology, Children’s National Medical Center, Washington, DC 20010, USADepartment of Radiology, Johns Hopkins Medical Institute, Baltimore, MD 21287, USAA 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.http://dx.doi.org/10.1155/2015/748413
spellingShingle Matthew T. Whitehead
Bonmyong Lee
Neuroimaging Features of San Luis Valley Syndrome
Case Reports in Radiology
title Neuroimaging Features of San Luis Valley Syndrome
title_full Neuroimaging Features of San Luis Valley Syndrome
title_fullStr Neuroimaging Features of San Luis Valley Syndrome
title_full_unstemmed Neuroimaging Features of San Luis Valley Syndrome
title_short Neuroimaging Features of San Luis Valley Syndrome
title_sort neuroimaging features of san luis valley syndrome
url http://dx.doi.org/10.1155/2015/748413
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