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Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

1 Apr 2021

Abstract excerpt

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...

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PMID: 33890810
DOI: 10.1177/00368504211011873

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