Reed Robyn C
Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.
Pediatr Dev Pathol. 2023 Mar-Apr;26(2):97-105. doi: 10.1177/10935266221126477. Epub 2022 Dec 27.
Craniolacunia, also known as lückenschädel, is a congenital abnormality of the calvaria featuring well-circumscribed areas of marked thinning, interspersed with more-normal bone. It is most commonly associated with myelomeningocele and/or Chiari 2 malformation.
Records, photographs, and histologic sections were reviewed from 13 autopsy cases with craniolacunia. To investigate normal calvarial development, 23 parietal bone samples from fetuses/infants of 16-42 weeks gestation were examined.
Parietal bone development had reproducible morphologic stages. Bone thickness increased with gestational age, while osteoblast numbers decreased. Craniolacunia was mainly seen in neonates. Five patients had Chiari 2 malformation, 1 had hydrocephalus, and 2 had other structural CNS abnormalities. One had trisomy 18. Four had no congenital abnormalities. Two sustained intrapartum skull fractures. Histologic sections were available in 5 cases. Lacunae in term infants had architecture similar to normal calvaria at 16-20 weeks. Adjacent bone had age appropriate architecture but increased osteoblast numbers.
This is the largest autopsy series of craniolacunia and first systematic histologic analysis of craniolacunia and the developing fetal calvaria. Decreased cerebrospinal fluid pressure, due to myelomeningocele or other structural abnormality, may promote craniolacunia development. The risk of intrapartum fracture through lacunae emphasizes the continued clinical relevance of this diagnosis.
颅骨缺损,也称为颅骨裂,是一种先天性颅骨异常,其特征为颅骨有边界清晰的明显变薄区域,其间夹杂着相对正常的骨质。它最常与脊髓脊膜膨出和/或Chiari 2畸形相关。
回顾了13例颅骨缺损尸检病例的记录、照片和组织学切片。为研究正常颅骨发育情况,检查了16 - 42周妊娠胎儿/婴儿的23块顶骨样本。
顶骨发育具有可重复的形态学阶段。骨厚度随孕周增加,而成骨细胞数量减少。颅骨缺损主要见于新生儿。5例患者有Chiari 2畸形,1例有脑积水,2例有其他中枢神经系统结构异常。1例有18三体综合征。4例无先天性异常。2例在分娩时发生颅骨骨折。5例有组织学切片。足月儿的缺损区域结构与16 - 20周正常颅骨相似。相邻骨质具有与年龄相符的结构,但成骨细胞数量增加。
这是最大规模的颅骨缺损尸检系列研究,也是首次对颅骨缺损和发育中的胎儿颅骨进行系统的组织学分析。由于脊髓脊膜膨出或其他结构异常导致的脑脊液压力降低可能促进颅骨缺损的发展。经缺损区域发生分娩时骨折的风险强调了这一诊断在临床中的持续相关性。