title: Neuroimaging Features of San Luis Valley Syndrome.
abstract: 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.
authors.affiliation: Department of Radiology, Children's National Medical Center, Washington, DC 20010, USA.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Whitehead
authors.affiliation: Department of Radiology, Johns Hopkins Medical Institute, Baltimore, MD 21287, USA.
authors.forename: Bonmyong
authors.initials: B
authors.lastname: Lee