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Article 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 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454983PMC
http://dx.doi.org/10.1177/00368504211011873DOI Listing

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