Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence
Intracerebral Periventricular Pseudocysts in a Fetus with Mitochondrial Depletion Syndrome: An Association or Coincidence
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DOI：
10.1159/000209385
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发表时间：
2009-01-01
影响因子：
2.2
通讯作者：
Blaser, S.
中科院分区：
文献类型：
--
作者：
Rohrbach, M.;Chitayat, D.;Blaser, S.
我们报告产前超声和磁共振成像发现心室周围，大室管膜下假性囊肿（SEPCs）在一个病人谁后来被诊断为线粒体耗损综合征（MDS）。据我们所知，这是首例MDS患者出现胎儿SEPCs的报道。这些发现可能为高危妊娠中MDS的产前诊断提供重要的诊断工具，因为导致MDS的基因突变尚未明确。它还可以指导新生儿医生对产前检测到SEPCs的新生儿进行产后护理，因为这种发现与感染、染色体异常、代谢紊乱和其他异常有关，如果这些发现是偶然发现的。我们需要进一步的研究来确定在我们的患者中检测到的SEPCs是一种关联还是巧合。版权所有(C) 2009 S. Karger AG，巴塞尔
We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may provide an important diagnostic tool for prenatal diagnosis of MDS in at risk pregnancies when the gene mutation causing the condition has not been delineated. It may also direct the neonatologist in the postnatal care of the newborn detected prenatally with SEPCs in view of the association of this finding with infection, chromosome abnormalities, metabolic disorders and other abnormalities, when such findings are identified serendipitously. Further research is needed to find if the SEPCs detected in our patient is an association or a coincidental finding. Copyright (C) 2009 S. Karger AG, Basel