Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

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 subepend...

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Autores principales: Sato, Yuki, Aoki, Ryoji, Nagano, Nobuhiko, Takano, Chika, Seimiya, Ayako, Kato, Ryota, Ogawa, Erika, Ishige, Mika, Okazaki, Yasushi, Murayama, Kei, Morioka, Ichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454983/
https://www.ncbi.nlm.nih.gov/pubmed/33890810
http://dx.doi.org/10.1177/00368504211011873
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author Sato, Yuki
Aoki, Ryoji
Nagano, Nobuhiko
Takano, Chika
Seimiya, Ayako
Kato, Ryota
Ogawa, Erika
Ishige, Mika
Okazaki, Yasushi
Murayama, Kei
Morioka, Ichiro
author_facet Sato, Yuki
Aoki, Ryoji
Nagano, Nobuhiko
Takano, Chika
Seimiya, Ayako
Kato, Ryota
Ogawa, Erika
Ishige, Mika
Okazaki, Yasushi
Murayama, Kei
Morioka, Ichiro
author_sort Sato, Yuki
collection PubMed
description 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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spelling pubmed-104549832023-08-26 Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease Sato, Yuki Aoki, Ryoji Nagano, Nobuhiko Takano, Chika Seimiya, Ayako Kato, Ryota Ogawa, Erika Ishige, Mika Okazaki, Yasushi Murayama, Kei Morioka, Ichiro Sci Prog Case Report 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. SAGE Publications 2021-04-23 /pmc/articles/PMC10454983/ /pubmed/33890810 http://dx.doi.org/10.1177/00368504211011873 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Sato, Yuki
Aoki, Ryoji
Nagano, Nobuhiko
Takano, Chika
Seimiya, Ayako
Kato, Ryota
Ogawa, Erika
Ishige, Mika
Okazaki, Yasushi
Murayama, Kei
Morioka, Ichiro
Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title_full Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title_fullStr Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title_full_unstemmed Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title_short Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
title_sort unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454983/
https://www.ncbi.nlm.nih.gov/pubmed/33890810
http://dx.doi.org/10.1177/00368504211011873
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