Combination of exome sequencing and immune testing confirms Aicardi-Goutieres syndrome type 5 in a challenging pediatric neurology case.

ABSTRACT: Exome sequencing is increasingly being used to help diagnose pediatric neurology cases when clinical presentations are not specific. However, interpretation of equivocal results that include variants of uncertain significance remains a challenge. In those cases, follow-up testing and clinical correlation can help clarify the clinical relevance of the molecular findings. In this report, we describe the diagnostic odyssey of a 4-year-old girl who presented with global developmental delay and seizures, with leukodystrophy seen on MRI. Clinical evaluation, MRI, and comprehensive metabolic testing were performed, followed by whole-exome sequencing (WES), parental testing, follow-up testing, and retrospective detailed clinical evaluation. WES identified two candidate causative pathogenic variant

SUBMITTER: Haskell GT 

PROVIDER: S-EPMC6169830 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature