Groninger Anja, Schaper Jörg, Messing-Juenger Martina, Mayatepek Ertan, Rosenbaum Thorsten
Department of General Pediatrics, Heinrich-Heine-University, Moorenstrasse 5, D-40225 Düsseldorf, Germany.
Pediatr Neurol. 2005 Feb;32(2):140-2. doi: 10.1016/j.pediatrneurol.2004.07.011.
Osteogenesis imperfecta is an inherited collagenous disease. The mildest form may present with less severe findings, for example blue sclera, but can also lead to significant handicap such as deafness or multiple bone fractures. We describe an 11-month-old female in whom bilateral chronic subdural hematoma was the leading clinical presentation of osteogenesis imperfecta type I. She was hospitalized due to epileptic seizures caused by these bilateral subdural hematomas without preceding trauma. Osteogenesis imperfecta type I was diagnosed on the basis of clinical and radiologic findings. This case demonstrates that nontraumatic chronic subdural hematoma in patients with osteogenesis imperfecta type I may be caused by impaired bone calcification, vascular fragility, and permanent friction between multiple bone fragments of the skull. Osteogenesis imperfecta type I should be considered as an underlying disease in cases of nontraumatic subdural hematoma. A thorough clinical examination is recommended to exclude subtle characteristics of the disease.
成骨不全是一种遗传性胶原疾病。最轻微的形式可能表现出不太严重的症状，例如蓝色巩膜，但也可能导致严重的残疾，如耳聋或多处骨折。我们描述了一名11个月大的女性，双侧慢性硬膜下血肿是其I型成骨不全的主要临床表现。她因这些双侧硬膜下血肿引起的癫痫发作而住院，之前并无外伤史。根据临床和影像学检查结果诊断为I型成骨不全。该病例表明，I型成骨不全患者的非创伤性慢性硬膜下血肿可能是由骨钙化受损、血管脆性增加以及颅骨多个骨碎片之间的持续摩擦所致。对于非创伤性硬膜下血肿病例，应将I型成骨不全视为潜在疾病。建议进行全面的临床检查以排除该疾病的细微特征。
