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Research ArticlePEDIATRICS

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders

F.G. Gonçalves, B. Hill, Y. Guo, C.C. Muraresku, E. McCormick, C.A.P.F. Alves, S.R. Teixeira, J.S. Martin-Saavedra, Z. Zolkipli-Cunningham, M.J. Falk, A. Vossough, A. Goldstein and G. Zuccoli
American Journal of Neuroradiology May 2020, DOI: https://doi.org/10.3174/ajnr.A6514
F.G. Gonçalves
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
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  • ORCID record for F.G. Gonçalves
B. Hill
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
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Y. Guo
cDepartments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)
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C.C. Muraresku
bMitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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E. McCormick
bMitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
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C.A.P.F. Alves
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
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S.R. Teixeira
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
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J.S. Martin-Saavedra
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
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Z. Zolkipli-Cunningham
bMitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
cDepartments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)
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M.J. Falk
bMitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
cDepartments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)
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A. Vossough
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
dRadiology (A.V.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
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A. Goldstein
bMitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
cDepartments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)
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G. Zuccoli
aFrom the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)
eThe Program for the Study of Neurodevelopment in Rare Disorders (NDRD) (G.Z.), Children's Hospital of Pittsburgh of UPMC.
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Abstract

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.

ABBREVIATIONS:

ASL
arterial spin-labeling
EEG
electroencephalogram
EPC
epilepsia partialis continua
MELAS
mitochondrial encephalomyopath with lactic acidosis and stroke-like episodes
mtDNA
mitochondrial DNA
Polγ
polymerase γ
POLG-RD
DNA polymerase γ–related disorder

Footnotes

  • G.Z. is the Principal Investigator (P.I.).

  • This work was funded, in part, by the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia.

  • Disclosures: Zarazuela Zolkipli-Cunningham—UNRELATED: Employment: Children’s Hospital of Philadelphia. Marni J. Falk—UNRELATED: Board Membership: United Mitochondrial Disease Foundation, Comments: travel reimbursement for serving on scientific and medical advisory boards and board of trustees of the United Mitochondrial Disease Foundation; Consultancy: several pharma companies, Comments: paid consultant for Mitobridge/Astellas, NeuroVive, Cyclerionc Therapeutics, Reneo Pharmaceuticals, Mission Therapeutics, Stealth BioTherapeutics, and Imel Therapeutics; Grants/Grants Pending: several pharma companies and foundations, Comments: grants from Mitobridge/Astellas, NeurovVive, Cyclerion Therapeutics, Mission Therapeutics (pending), Stealth BioTherapeutics, Minovia Therapeutics (pending)*; Patents (Planned, Pending or Issued): several, Comments: several patents (no current value) at home institution in mitochondrial disease diagnostic and therapeutic development*; Royalties: Elsevier, Comments: editor of book now in press at Elsevier, Mitochondrial Disease Genes Compendium; Stock/Stock Options: Mitocureia, Comments: co-founder and scientific advisory board co-Chair of Mitocureia; Travel/Accommodations/Meeting Expenses Unrelated to Activities Listed: education travel, Comments: reimbursed for travel to speak at meetings on mitochondrial diagnostics and therapeutics including at CardioInfantil, Bogota, Columbia; Pediatric Neurology Society, Mexico; American College of Medical Genetics; Emory/Atlanta Children’s Hospital; New York University; Cornell University; Washington University in St Louis; Seattle Children’s Hospital; scientific and family meetings hosted by United Mitochondrial Disease Foundation; European Society of Human Genetics; Society for the Study of Inborn Errors of Metabolism; Society of Inherited Metabolic Disease; Hebrew University; Asian Society Of Inborn Errors of Metabolism; Wellcome Genome Campus; Cold Spring Harbor Laboratory. Amy Goldstein—UNRELATED: Board Membership: United Mitochondrial Disease Foundation, Comments: Scientific and Medical Advisory Board. *Money paid to the institution.

  • © 2020 by American Journal of Neuroradiology
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The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders
F.G. Gonçalves, B. Hill, Y. Guo, C.C. Muraresku, E. McCormick, C.A.P.F. Alves, S.R. Teixeira, J.S. Martin-Saavedra, Z. Zolkipli-Cunningham, M.J. Falk, A. Vossough, A. Goldstein, G. Zuccoli
American Journal of Neuroradiology May 2020, DOI: 10.3174/ajnr.A6514

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The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders
F.G. Gonçalves, B. Hill, Y. Guo, C.C. Muraresku, E. McCormick, C.A.P.F. Alves, S.R. Teixeira, J.S. Martin-Saavedra, Z. Zolkipli-Cunningham, M.J. Falk, A. Vossough, A. Goldstein, G. Zuccoli
American Journal of Neuroradiology May 2020, DOI: 10.3174/ajnr.A6514
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