A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.

Cansu Altuntaş, Tugce Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci, Nafiye Emel Çakar, Bilge Noyan, Ali İhsan Dokucu, Hasan Önal

Clinical neurology and neurosurgery 2023 Jun

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Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients. Cases with POLG1 mutations strikingly differ from classic MNGIE patients due to a lack of leukoencephalopathy. Here we present a female patient with very early onset disease and leukoencephalopathy compatible with classic MNGIE disease who turned out to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b. Copyright © 2023 Elsevier B.V. All rights reserved.

Citation

Cansu Altuntaş, Tugce Aksu Uzunhan, Biray Ertürk, Mey Talip Petmezci, Nafiye Emel Çakar, Bilge Noyan, Ali İhsan Dokucu, Hasan Önal. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy. Clinical neurology and neurosurgery. 2023 Jun;229:107712