Crowder Felistia N, Deskins Seth J, Decker Morgan, Parrish Kylie
Pediatrics, West Virginia University Health System, Morgantown, USA.
Internal Medicine-Pediatrics, West Virginia University Health System, Morgantown, USA.
Cureus. 2022 Feb 21;14(2):e22430. doi: 10.7759/cureus.22430. eCollection 2022 Feb.
Acalvaria is a rare cranial vault defect characterized by the presence of the cerebellum and cerebral cortex with the absence of the calvarium above the orbits, intact facial structures, and the presence of dura mater. Unfortunately, this diagnosis comes with a dim prognosis that is not compatible with life long-term. First-trimester diagnosis with ultrasonography can establish the diagnosis. If imaging is equivocal, advanced imaging with fetal MRI has a role to aid in distinguishing between similar cranial vault defects that fall on the spectrum including anencephaly, exencephaly, and acrania. We present the case of a term male infant with known acalvaria diagnosed incidentally on prenatal ultrasound that was delivered by cesarean section to a G3P3 mother at the time of delivery with two prior uncomplicated pregnancies. Maternal history was rather insignificant except for gestational diabetes and gestational hypertension well-controlled without medication. After initiation of comfort measures only, the infant expired on day of life two.
无颅骨畸形是一种罕见的颅顶骨缺损，其特征为存在小脑和大脑皮质，但眼眶上方无颅骨，面部结构完整，且有硬脑膜。不幸的是，这种诊断的预后不佳，无法长期存活。孕早期超声检查可做出诊断。如果影像学检查结果不明确，胎儿磁共振成像（MRI）等高级影像学检查有助于区分包括无脑儿、露脑畸形和无颅畸形等一系列类似的颅顶骨缺损。我们报告一例足月男婴，产前超声偶然诊断为已知的无颅骨畸形，剖宫产出生于一位G3P3母亲，其前两次妊娠均无并发症。除妊娠糖尿病和妊娠高血压且无需药物治疗即可良好控制外，母亲的病史无足轻重。仅采取舒适护理措施后，婴儿于出生后第二天死亡。
