Phillipi Michael A, Khaki Sheevaun, Kim Amanda J H, Regner Michael F, Gievers Ladawna
School of Medicine, California University of Science and Medicine, Colton, California.
Department of Pediatrics, Oregon Health & Science University, Portland, Oregon.
Am J Perinatol. 2025 Sep;42(12):1630-1637. doi: 10.1055/a-2521-1020. Epub 2025 Jan 21.
This study aimed to determine the prevalence of septo-optic dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC), or dysgenesis of the corpus callosum (DCC).This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016 and 2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation. Sociodemographic and clinical data were collected for eligible neonates and their birthing persons. The prevalence of SOD in patients with midline callososeptal anomalies was calculated.Of the 86 patients prenatally diagnosed with absent CSP, ACC, and/or DCC, 36.0% ( = 31) were diagnosed postnatally with SOD. Of those diagnosed with SOD, 71.0% ( = 22) had isolated optic nerve hypoplasia, 9.7% ( = 3) had pituitary hormone abnormalities, and 19.4% ( = 6) had both. Seven patients required maintenance hydrocortisone, one required thyroid hormone replacement, and one required thyroid and growth hormones. Of the 26 patients with SOD who underwent genetic testing, 9 (34.6%) had one or more genetic differences detected.SOD was diagnosed in 36.0% of cases of prenatally diagnosed midline callososeptal anomalies. For patients with prenatally diagnosed midline callososeptal anomalies, a standardized, postnatal SOD evaluation allows timely diagnosis and prompts early intervention and hormone replacement, thus avoiding the consequences of a delayed diagnosis. · Thirty-six percent of patients with midline callososeptal anomalies were diagnosed with SOD.. · Most patients (71.0%) diagnosed with SOD had optic nerve hypoplasia without pituitary abnormalities.. · Although most patients received genetic testing, no findings were linked to SOD..
本研究旨在确定产前诊断为透明隔腔（CSP）缺如、胼胝体发育不全（ACC）或胼胝体发育异常（DCC）的患者中隔-视发育不良（SOD）的患病率。这项回顾性图表审查研究了2016年至2023年间在太平洋西北部一家单一的四级学术医疗中心住院的、产前诊断为CSP缺如、ACC或DCC的新生儿。这种产前诊断促使对SOD进行常规且标准化的产后检查，包括实验室评估、影像学检查和专科会诊。收集了符合条件的新生儿及其分娩者的社会人口统计学和临床数据。计算了中线胼胝体-透明隔异常患者中SOD的患病率。在86例产前诊断为CSP缺如、ACC和/或DCC的患者中，36.0%（n = 31）在产后被诊断为SOD。在那些被诊断为SOD的患者中，71.0%（n = 22）有孤立性视神经发育不全，9.7%（n = 3）有垂体激素异常，19.4%（n = 6）两者都有。7例患者需要维持氢化可的松治疗，1例需要甲状腺激素替代治疗，1例需要甲状腺激素和生长激素。在26例接受基因检测的SOD患者中，9例（34.6%）检测到一种或多种基因差异。在产前诊断的中线胼胝体-透明隔异常病例中，36.0%被诊断为SOD。对于产前诊断为中线胼胝体-透明隔异常的患者，标准化的产后SOD评估能够及时诊断并促使早期干预和激素替代治疗，从而避免延迟诊断的后果。· 36%的中线胼胝体-透明隔异常患者被诊断为SOD。· 大多数被诊断为SOD的患者（71.0%）有视神经发育不全且无垂体异常。· 尽管大多数患者接受了基因检测，但未发现与SOD相关的结果。
