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

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
JournalScience Progress
Volume104
Issue number2
DOIs
Publication statusPublished - 2021

Keywords

  • Brain sonography
  • IBA57 gene
  • mitochondrial disease
  • newborn
  • subependymal pseudocyst

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