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

Altuntaş, Cansu; Uzunhan, Tugce; Ertürk, Biray; Petmezci, Mey; ÇAKAR, Nafiye; Noyan, Bilge; DOKUCU, Ali; ÖNAL, Hasan

doi:10.1016/j.clineuro.2023.107712

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

Altuntaş C., Uzunhan T. A., Ertürk B., Petmezci M. T., ÇAKAR N. E., Noyan B., ...Daha Fazla

Clinical Neurology and Neurosurgery, cilt.229, 2023 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 229
Basım Tarihi: 2023
Doi Numarası: 10.1016/j.clineuro.2023.107712
Dergi Adı: Clinical Neurology and Neurosurgery
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE
Anahtar Kelimeler: Mitochondrial DNA Depletion Syndrome, MNGIE syndrome, Leukoencephalopathy, Gastroparesis, Inherited peripheral neuropathy
Sağlık Bilimleri Üniversitesi Adresli: Evet

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.