Yakar Fatih, Celtikci Emrah, Ozgural Onur, Eroglu Umit, Caglar Yusuf Sukru
Department of Neurosurgery, Kars Harakani Hospital, Kars, Turkey.
Department of Neurosurgery, Ankara University School of Medicine, Ibni Sina Hospital, Ankara, Turkey.
J Pediatr Genet. 2018 Dec;7(4):185-190. doi: 10.1055/s-0038-1660826. Epub 2018 Jun 14.
Osteogenesis imperfecta, also named as brittle bone disease, is characterized by fragile bones and short stature caused by mutations in the collagen gene. Subdural and intraparenchymal hematomas are defined and associated with trauma, vascular causes, and systemic bleeding diathesis. Skull fragility may lead to epidural hematoma, which is a life-threatening situation. Vascular fragility and intrinsic platelet defects are the causes of bleeding in patients with osteogenesis imperfecta, which is a major management challenge for neurosurgeons. Here, we reported on a 5-year-old boy with osteogenesis imperfecta with epidural hematoma and skull fracture following a trivial trauma, and made a literature review of 28 cases with extra-/intradural hematoma.
成骨不全,也被称为脆骨病,其特征是由于胶原蛋白基因突变导致骨骼脆弱和身材矮小。硬膜下和脑实质内血肿是由创伤、血管原因和全身出血素质所定义和关联的。颅骨脆弱可能导致硬膜外血肿,这是一种危及生命的情况。血管脆弱和内在血小板缺陷是成骨不全患者出血的原因,这对神经外科医生来说是一个主要的管理挑战。在此,我们报告了一名5岁患有成骨不全的男孩,在轻微创伤后出现硬膜外血肿和颅骨骨折,并对28例硬膜外/硬膜下血肿病例进行了文献综述。