A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.
Clin Neurol Neurosurg
; 229: 107712, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-37084649
ABSTRACT
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.
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MEDLINE
Assunto principal:
Encefalomiopatias Mitocondriais
/
Leucoencefalopatias
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article