A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Mitochondrial Dna Depletion Syndrome, Mngie Syndrome, Leukoencephalopathy, Gastroparesis, Inherited Peripheral Neuropathy
Kaynak
Clinical Neurology and Neurosurgery
WoS Q Değeri
N/A
Scopus Q Değeri
Q2
Cilt
229
