Early-Onset Aicardi-Goutières Syndrome

Adeline Vanderver, Morgan Prust, Nadja Kadom, Scott Demarest, Yanick J. Crow, Guy Helman, Simona Orcesi, Roberta La Piana, Carla Uggetti, Jichuan Wang, Heather Gordisch-Dressman, Marjo S. Van Der Knaap, John H. Livingston

Research output: Contribution to journalArticle

14 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1343-1348
Number of pages6
JournalJournal of Child Neurology
Volume30
Issue number10
DOIs
Publication statusPublished - Sep 18 2015

Fingerprint

Aicardi Syndrome
Magnetic Resonance Imaging
Temporal Lobe
Atrophy
Leukoencephalopathies
Research Ethics Committees
Dilatation
Central Nervous System
Logistic Models
Sensitivity and Specificity

Keywords

  • Aicardi-Goutières syndrome
  • leukodystrophies
  • pediatric neuroradiology

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Vanderver, A., Prust, M., Kadom, N., Demarest, S., Crow, Y. J., Helman, G., ... Livingston, J. H. (2015). Early-Onset Aicardi-Goutières Syndrome. Journal of Child Neurology, 30(10), 1343-1348. https://doi.org/10.1177/0883073814562252

Early-Onset Aicardi-Goutières Syndrome. / Vanderver, Adeline; Prust, Morgan; Kadom, Nadja; Demarest, Scott; Crow, Yanick J.; Helman, Guy; Orcesi, Simona; Piana, Roberta La; Uggetti, Carla; Wang, Jichuan; Gordisch-Dressman, Heather; Van Der Knaap, Marjo S.; Livingston, John H.

In: Journal of Child Neurology, Vol. 30, No. 10, 18.09.2015, p. 1343-1348.

Research output: Contribution to journalArticle

Vanderver, A, Prust, M, Kadom, N, Demarest, S, Crow, YJ, Helman, G, Orcesi, S, Piana, RL, Uggetti, C, Wang, J, Gordisch-Dressman, H, Van Der Knaap, MS & Livingston, JH 2015, 'Early-Onset Aicardi-Goutières Syndrome', Journal of Child Neurology, vol. 30, no. 10, pp. 1343-1348. https://doi.org/10.1177/0883073814562252
Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G et al. Early-Onset Aicardi-Goutières Syndrome. Journal of Child Neurology. 2015 Sep 18;30(10):1343-1348. https://doi.org/10.1177/0883073814562252
Vanderver, Adeline ; Prust, Morgan ; Kadom, Nadja ; Demarest, Scott ; Crow, Yanick J. ; Helman, Guy ; Orcesi, Simona ; Piana, Roberta La ; Uggetti, Carla ; Wang, Jichuan ; Gordisch-Dressman, Heather ; Van Der Knaap, Marjo S. ; Livingston, John H. / Early-Onset Aicardi-Goutières Syndrome. In: Journal of Child Neurology. 2015 ; Vol. 30, No. 10. pp. 1343-1348.
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