Altuntas, CansuUzunhan, Tugce AksuErturk, BirayPetmezci, Mey TalipCakar, Nafiye EmelNoyan, BilgeDokucu, Ali Ihsan2024-05-192024-05-1920230303-84671872-6968https://doi.org10.1016/j.clineuro.2023.107712https://hdl.handle.net/20.500.12713/5362Mitochondrial 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.eninfo:eu-repo/semantics/closedAccessMitochondrial Dna Depletion SyndromeMngie SyndromeLeukoencephalopathyGastroparesisInherited Peripheral NeuropathyArticle22937084649WOS:0009848627000012-s2.0-85152651676N/A10.1016/j.clineuro.2023.107712Q2