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

doi:10.1177/00368504211011873

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

4 Citations (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 language	English
Journal	Science Progress
Volume	104
Issue number	2
DOIs	https://doi.org/10.1177/00368504211011873
Publication status	Published - 2021

Keywords

Brain sonography
IBA57 gene
mitochondrial disease
newborn
subependymal pseudocyst

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10.1177/00368504211011873

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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.",

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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",

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T1 - Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

AU - Sato, Yuki

AU - Aoki, Ryoji

AU - Nagano, Nobuhiko

AU - Takano, Chika

AU - Seimiya, Ayako

AU - Kato, Ryota

AU - Ogawa, Erika

AU - Ishige, Mika

AU - Okazaki, Yasushi

AU - Murayama, Kei

AU - Morioka, Ichiro

N1 - Publisher Copyright: © The Author(s) 2021.

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - Brain sonography

KW - IBA57 gene

KW - mitochondrial disease

KW - newborn

KW - subependymal pseudocyst

UR - http://www.scopus.com/inward/record.url?scp=85105047572&partnerID=8YFLogxK

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DO - 10.1177/00368504211011873

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AN - SCOPUS:85105047572

SN - 0036-8504

VL - 104

JO - Science Progress

JF - Science Progress

IS - 2

ER -

Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

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Keywords

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