Abstract：
UNASSIGNED: The septum pellucidum is a virtual cavity located at the anterior part of the brain midline, which only in fetal life has a certain amount of fluid inside. The presence of an obliterated cavum septi pellucidi (oCSP) in the prenatal period is poorly described in the literature but, nevertheless, it constitutes an important clinical dilemma for the fetal medicine specialist in terms of significance and prognosis. Moreover, its occurrence is increasing maybe because of the widespread of high-resolution ultrasound machine. The aim of this work is to review the available literature regarding the oCSP along with the description of a case-report of oCSP with an unexpected outcome.
UNASSIGNED: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords \"cavum septi pellucidi,\" \"abnormal cavum septi pellucidi,\" \"fetus,\" and \"septum pellucidum.\" Along with the narrative review, we describe a case-report of oCSP.
UNASSIGNED: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and \"hookshaped\" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a de novo pathogenic variant involving the PTEN gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population.
UNASSIGNED: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
UNASSIGNED: A search of the literature through Pubmed was performed up to December 2022 with the aim to identify all cases of oCSP previously described, using as keywords \"cavum septi pellucidi,\" \"abnormal cavum septi pellucidi,\" \"fetus,\" and \"septum pellucidum.\" Along with the narrative review, we describe a case-report of oCSP.
UNASSIGNED: A 39 years old woman was diagnosed with a nuchal translucency between the 95° and 99° centile in the first trimester and an oCSP and \"hookshaped\" gallbladder at 20 weeks. Left polymicrogyria was found at fetal magnetic resonance imaging (MRI). Standard karyotype and chromosomal microarray analysis (CMA) were normal. After birth, the newborn presented signs of severe acidosis, untreatable seizures and multiorgan failure leading to death. A targeted gene analysis of the epilepsy panel revealed the presence of a de novo pathogenic variant involving the PTEN gene. The literature review identified four articles reporting on the oCSP of which three were case report and one was a case-series. The reported rate of associated cerebral findings is around 20% and the rate of adverse neurological outcome is around 6%, which is higher than the background risk of the general population.
UNASSIGNED: This case-report and review of the literature shows that oCSP is a clinical entity poorly described so far and that, despite the generally good prognosis, it requires caution in counseling. The diagnostic work-up should include neurosonography while fetal MRI may be always indicated for non-isolated cases only, depending on local facilities. Targeted gene analysis or whole exome sequencing may be indicated for non-isolated cases.
摘要：
■透明隔是位于大脑中线前部的虚拟空腔，只有在胎儿体内有一定量的液体。在产前时期存在闭塞的透明隔腔（oCSP）的文献描述很少，但是，然而，就意义和预后而言，它构成了胎儿医学专家的重要临床困境。此外，它的发生正在增加，可能是由于高分辨率超声机的普及。这项工作的目的是回顾有关oCSP的现有文献以及对具有意外结果的oCSP病例报告的描述。
■直到2022年12月，通过Pubmed进行了文献搜索，目的是确定先前描述的所有oCSP病例。使用作为关键字\“cavumseptipellucidi，\“\”异常的隔透明腔，\"\"胎儿,“和”透明隔。“随着叙事审查，我们描述了一个oCSP的病例报告。
一名39岁的女性在妊娠早期被诊断为95°和99°百分位数之间的颈部半透明，在20周时被诊断为OCSP和“钩状”胆囊。在胎儿磁共振成像（MRI）中发现了左多微陀螺。标准核型和染色体微阵列分析（CMA）正常。出生后,新生儿出现严重酸中毒的迹象,无法治愈的癫痫发作和多器官衰竭导致死亡。癫痫组的靶向基因分析揭示了涉及PTEN基因的从头致病性变体的存在。文献综述确定了四篇关于oCSP的文章，其中三篇是病例报告，一篇是病例系列。相关大脑发现的报告比率约为20％，神经系统不良结局的比率约为6％，高于普通人群的背景风险。
■此病例报告和文献综述表明，oCSP是一种临床实体，迄今为止描述不佳，尽管预后总体良好，在咨询时需要谨慎。诊断检查应包括神经超声检查，而胎儿MRI可能仅适用于非孤立病例，取决于当地的设施。靶向基因分析或全外显子组测序可用于非隔离病例。
■直到2022年12月，通过Pubmed进行了文献搜索，目的是确定先前描述的所有oCSP病例。使用作为关键字\“cavumseptipellucidi，\“\”异常的隔透明腔，\"\"胎儿,“和”透明隔。“随着叙事审查，我们描述了一个oCSP的病例报告。
一名39岁的女性在妊娠早期被诊断为95°和99°百分位数之间的颈部半透明，在20周时被诊断为OCSP和“钩状”胆囊。在胎儿磁共振成像（MRI）中发现了左多微陀螺。标准核型和染色体微阵列分析（CMA）正常。出生后,新生儿出现严重酸中毒的迹象,无法治愈的癫痫发作和多器官衰竭导致死亡。癫痫组的靶向基因分析揭示了涉及PTEN基因的从头致病性变体的存在。文献综述确定了四篇关于oCSP的文章，其中三篇是病例报告，一篇是病例系列。相关大脑发现的报告比率约为20％，神经系统不良结局的比率约为6％，高于普通人群的背景风险。
■此病例报告和文献综述表明，oCSP是一种临床实体，迄今为止描述不佳，尽管预后总体良好，在咨询时需要谨慎。诊断检查应包括神经超声检查，而胎儿MRI可能仅适用于非孤立病例，取决于当地的设施。靶向基因分析或全外显子组测序可用于非隔离病例。
