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Research ArticlePEDIATRIC NEUROIMAGING

Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series

Francesco Pacchiano, Chiara Doneda, Filippo Arrigoni, Mario Tortora, Maria Teresa Contaldo, Germana Lomonaco, Roberto Previtali, Sara Olivotto, Pierangelo Veggiotti, Cecilia Parazzini and Andrea Righini
American Journal of Neuroradiology January 2025, DOI: https://doi.org/10.3174/ajnr.A8506
Francesco Pacchiano
aFrom the Department of Precision Medicine (F.P.), University of Campania “L. Vanvitelli,” Caserta, Italy
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  • ORCID record for Francesco Pacchiano
Chiara Doneda
bDepartment of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children’s Hospital V. Buzzi, Milan, Italy
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  • ORCID record for Chiara Doneda
Filippo Arrigoni
bDepartment of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children’s Hospital V. Buzzi, Milan, Italy
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  • ORCID record for Filippo Arrigoni
Mario Tortora
cDepartment of Advanced Biomedical Sciences (M.T.), University “Federico II,” Naples, Italy
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Maria Teresa Contaldo
dSchool of Radiology (M.T.C.), University of Milan, Milan, Italy
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  • ORCID record for Maria Teresa Contaldo
Germana Lomonaco
ePediatric Neurology Unit (G.L., R.P., S.O., P.V.), Buzzi Children’s Hospital, Milan, Italy
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  • ORCID record for Germana Lomonaco
Roberto Previtali
ePediatric Neurology Unit (G.L., R.P., S.O., P.V.), Buzzi Children’s Hospital, Milan, Italy
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Sara Olivotto
ePediatric Neurology Unit (G.L., R.P., S.O., P.V.), Buzzi Children’s Hospital, Milan, Italy
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Pierangelo Veggiotti
ePediatric Neurology Unit (G.L., R.P., S.O., P.V.), Buzzi Children’s Hospital, Milan, Italy
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Cecilia Parazzini
bDepartment of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children’s Hospital V. Buzzi, Milan, Italy
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  • ORCID record for Cecilia Parazzini
Andrea Righini
bDepartment of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children’s Hospital V. Buzzi, Milan, Italy
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  • FIG 1.
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    FIG 1.

    Case 1. MR examinations from left to right: 3D-pCASL, ADC map, and MRA-MIP. The upper row shows images acquired during the acute phase: hypoperfusion in the left cerebral hemisphere (white arrow) and in the contralateral cerebellar hemisphere (blue arrow). No ADC map changes are seen. Note reduced representation of the distal branches of the left MCA (white arrowhead). The lower row shows the follow-up examination 4 days later with normalization of all the findings.

  • FIG 2.
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    FIG 2.

    Case 2. MR examinations from left to right: 3D-pCASL, ADC map, MRA-MIP, and SWI. The upper row shows the acute onset: hypoperfusion in the left cerebral hemisphere (white arrow) and in cerebellar hemispheres but more pronounced in the right cerebellar hemisphere (blue arrow). No ADC map changes are seen. Note reduced representation of the distal branches of the left MCA (white arrowhead) and a mild increase in the conspicuity of cortical veins on the left side on SWI (blue arrowhead). The lower row shows the follow-up examination after 3 days, with normalization of all the findings.

  • FIG 3.
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    FIG 3.

    Case 3. MR examinations from left to right: 3D-pCASL, ADC map, TOF-MIP, and SWI. The upper row shows the acute phase findings: hypoperfusion of the left cerebral hemisphere (white arrow) and of the contralateral cerebellar hemisphere (blue arrow). No ADC map changes are seen. Note reduced representation of distal branches of the left MCA (white arrowhead) and a mild increase in the conspicuity of cortical veins on the left side on SWI (blue arrowhead). The lower row shows the follow-up examination after 7 days, with normalization of all acute findings. There is persistent-but-improved hypoperfusion of the right cerebellar hemisphere proportional to what would be expected for the known background encephalomalacia in this region (blue arrow).

  • FIG 4.
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    FIG 4.

    Case 4. MR examination from left to right: 3D-pCASL, ADC map, and MRA at the acute onset of symptoms: hypoperfusion of the left cerebral hemisphere (white arrow) and of the contralateral cerebellar hemisphere (blue arrow). No ADC map changes are seen. Note reduced representation of the distal branches of the left MCA (white arrowhead).

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Francesco Pacchiano, Chiara Doneda, Filippo Arrigoni, Mario Tortora, Maria Teresa Contaldo, Germana Lomonaco, Roberto Previtali, Sara Olivotto, Pierangelo Veggiotti, Cecilia Parazzini, Andrea Righini
Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series
American Journal of Neuroradiology Jan 2025, DOI: 10.3174/ajnr.A8506

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Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series
Francesco Pacchiano, Chiara Doneda, Filippo Arrigoni, Mario Tortora, Maria Teresa Contaldo, Germana Lomonaco, Roberto Previtali, Sara Olivotto, Pierangelo Veggiotti, Cecilia Parazzini, Andrea Righini
American Journal of Neuroradiology Jan 2025, DOI: 10.3174/ajnr.A8506
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