期刊
CLINICAL NEUROLOGY AND NEUROSURGERY
卷 229, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.clineuro.2023.107712
关键词
Mitochondrial DNA Depletion Syndrome; MNGIE syndrome; Leukoencephalopathy; Gastroparesis; Inherited peripheral neuropathy
MNGIE is a well-known mitochondrial depletion syndrome linked to POLG1 mutations. We present a case of a female patient with early onset disease and leukoencephalopathy compatible with classic MNGIE, who was found to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b.
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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