Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease-Reference-Cited by-同舟云学术

Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

Published:2021-04 Issue:2 Volume:104 Page:003685042110118
ISSN:0036-8504
Container-title:Science Progress
language:en
Short-container-title:Science Progress

Author:

Sato Yuki¹^ORCID,Aoki Ryoji¹,Nagano Nobuhiko¹^ORCID,Takano Chika¹,Seimiya Ayako¹,Kato Ryota¹,Ogawa Erika¹,Ishige Mika¹,Okazaki Yasushi²,Murayama Kei³,Morioka Ichiro¹

Affiliation:

1. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan

2. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan

3. Center for Medical Genetics, Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan

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.

Funder

the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development

JSPS KAKENHI

Publisher

SAGE Publications

Subject

Multidisciplinary

Link

http://journals.sagepub.com/doi/pdf/10.1177/00368504211011873

Reference18 articles.

1. Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency

2. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency