Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition

J Child Neurol. 2015 Sep;30(10):1343-8. doi: 10.1177/0883073814562252. Epub 2014 Dec 22.

Abstract

Aicardi-Goutières syndrome is an inherited leukodystrophy with calcifying microangiopathy and abnormal central nervous system myelination. As fewer diagnostic computed tomographic (CT) scans are being performed due to increased availability of magnetic resonance imaging (MRI), there is a potential for missed diagnoses on the basis of calcifications. We review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutières syndrome and scored for a panel of radiologic predictors. Each individual predictor was tested against disease status using exact logistic regression. Features for pattern recognition of Aicardi-Goutières syndrome are temporal lobe swelling followed by atrophy with temporal horn dilatation, early global cerebral atrophy and visible calcifications, as evidenced by 94.44% of cases of Aicardi-Goutières syndrome correctly classified with a sensitivity of 90.9% and specificity of 96.9%. We identify a panel of MRI features predictive of Aicardi-Goutières syndrome in young patients that would differentiate it from other leukoencephalopathies.

Keywords: Aicardi-Goutières syndrome; leukodystrophies; pediatric neuroradiology.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Autoimmune Diseases of the Nervous System / diagnosis*
  • Autoimmune Diseases of the Nervous System / pathology*
  • Brain / pathology*
  • Child, Preschool
  • Humans
  • Infant
  • Logistic Models
  • Magnetic Resonance Imaging* / methods
  • Nervous System Malformations / diagnosis*
  • Nervous System Malformations / pathology*
  • Organ Size
  • Sensitivity and Specificity

Supplementary concepts

  • Aicardi-Goutieres syndrome