@article{a90cc85cad5a4df6957b6fb4452f00ed,
title = "Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease",
abstract = "Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts in the brain. Atypical morphology is rarely seen in these cysts. Here, we report a case of neonatal lethal mitochondrial disease with IBA57 gene mutation. We have, for the first time, described a subependymal pseudocyst (SEPC) with a fluctuating membrane. Our findings suggest that SEPCs with fluctuating membranes can be a potential diagnostic indicator of neonatal mitochondrial disease.",
keywords = "Brain sonography, IBA57 gene, mitochondrial disease, newborn, subependymal pseudocyst",
author = "Yuki Sato and Ryoji Aoki and Nobuhiko Nagano and Chika Takano and Ayako Seimiya and Ryota Kato and Erika Ogawa and Mika Ishige and Yasushi Okazaki and Kei Murayama and Ichiro Morioka",
note = "Publisher Copyright: {\textcopyright} The Author(s) 2021.",
year = "2021",
doi = "10.1177/00368504211011873",
language = "English",
volume = "104",
journal = "Science Progress",
issn = "0036-8504",
publisher = "SAGE Publications Ltd",
number = "2",
}