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RT Journal Article
SR Electronic
T1 The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A6514
A1 Gonçalves, F.G.
A1 Hill, B.
A1 Guo, Y.
A1 Muraresku, C.C.
A1 McCormick, E.
A1 Alves, C.A.P.F.
A1 Teixeira, S.R.
A1 Martin-Saavedra, J.S.
A1 Zolkipli-Cunningham, Z.
A1 Falk, M.J.
A1 Vossough, A.
A1 Goldstein, A.
A1 Zuccoli, G.
YR 2020
UL http://www.ajnr.org/content/early/2020/05/07/ajnr.A6514.abstract
AB SUMMARY: Pathogenic variants in the polymerase γ gene (POLG) cause a diverse group of pathologies known as POLG-related disorders. In this report, we describe brain MR imaging findings and electroencephalogram correlates of 13 children with POLG-related disorders at diagnosis and follow-up. At diagnosis, all patients had seizures and 12 had abnormal MR imaging findings. The most common imaging findings were unilateral or bilateral perirolandic (54%) and unilateral or bilateral thalamic signal changes (77%). Association of epilepsia partialis continua with perirolandic and thalamic signal changes was present in 86% and 70% of the patients, respectively. The occipital lobe was affected in 2 patients. On follow-up, 92% of the patients had disease progression or fatal outcome. Rapid volume loss was seen in 77% of the patients. The occipital lobe (61%) and thalamus (61%) were the most affected brain regions. Perirolandic signal changes and seizures may represent a brain imaging biomarker of early-onset pediatric POLG-related disorders.ASLarterial spin-labelingEEGelectroencephalogramEPCepilepsia partialis continuaMELASmitochondrial encephalomyopath with lactic acidosis and stroke-like episodesmtDNAmitochondrial DNAPolγpolymerase γPOLG-RDDNA polymerase γ–related disorder