Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
Yuki Sato, Ryoji Aoki, Nobuhiko Nagano, Chika Takano, Ayako Seimiya, Ryota Kato, Erika Ogawa, Mika Ishige, Yasushi Okazaki, Kei Murayama, Ichiro Morioka
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.
Topics & Concepts
Subependymal zoneMitochondrial diseaseDiseasePathologyBiologyMitochondrionMutationMitochondrial DNAMedicineGeneGeneticsMitochondrial Function and PathologyAdvanced MRI Techniques and ApplicationsInfectious Encephalopathies and Encephalitis