新生儿脑室内膜下独特且异常的假囊肿，伴发线粒体疾病。
Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease.
机构信息
Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
出版信息
Sci Prog. 2021 Apr-Jun;104(2):368504211011873. doi: 10.1177/00368504211011873.
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.
新生儿脑室内囊肿偶尔会并发线粒体疾病，这种囊肿形态通常不典型。本研究报道了一例由 基因突变导致的新生儿致死性线粒体疾病。首次描述了具有波动性膜的室管膜下假囊肿（SEPC）。研究结果提示，具有波动性膜的 SEPC 可能是新生儿线粒体疾病的潜在诊断指标。
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