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PT  - JOURNAL ARTICLE
AU  - Gonçalves, F.G.
AU  - Hill, B.
AU  - Guo, Y.
AU  - Muraresku, C.C.
AU  - McCormick, E.
AU  - Alves, C.A.P.F.
AU  - Teixeira, S.R.
AU  - Martin-Saavedra, J.S.
AU  - Zolkipli-Cunningham, Z.
AU  - Falk, M.J.
AU  - Vossough, A.
AU  - Goldstein, A.
AU  - Zuccoli, G.
TI  - The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders
AID  - 10.3174/ajnr.A6514
DP  - 2020 May 01
TA  - American Journal of Neuroradiology
PG  - 917--922
VI  - 41
IP  - 5
4099  - http://www.ajnr.org/content/41/5/917.short
4100  - http://www.ajnr.org/content/41/5/917.full
SO  - Am. J. Neuroradiol.2020 May 01; 41
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