Paterson C R, Burns J, McAllion S J
Department of Biochemical Medicine, University of Dundee, Scotland.
Am J Med Genet. 1993 Jan 15;45(2):187-92. doi: 10.1002/ajmg.1320450208.
Unexplained fractures are characteristic of both osteogenesis imperfecta (OI) and non-accidental injury (NAI) but in most cases the diagnosis is straightforward. However, in a few OI patients an initial diagnosis of NAI is made. Factors contributing to such difficulties include failure to recognise that OI can occur without a family history, without blue sclerae, without osteopenia, without an excess of Wormian bones, or with metaphyseal fractures. In addition we report on 39 patients with an unusual history in that fractures only occurred in the first year of life. Rib fractures, metaphyseal abnormalities and periosteal reactions were common. The initial diagnosis was usually OI if the fractures occurred in hospital, but NAI if they appeared to have been sustained at home. Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic attacks were often found in these patients. The disorder has some similarities to the syndrome of infantile copper deficiency. Like the latter it is particularly common in preterm infants and in twins. Therefore, we are attempting to examine the incidence of significant hypocupraemia in unselected preterm infants. We suggest that the likely cause of this "temporary brittle bone disease" is a temporary deficiency of an enzyme, perhaps a metalloenzyme, involved in the post-translational processing of collagen.
不明原因的骨折是成骨不全症（OI）和非意外性损伤（NAI）的共同特征，但在大多数情况下诊断并不困难。然而，有少数OI患者最初被诊断为NAI。导致这种诊断困难的因素包括未能认识到OI可能在无家族史、无蓝色巩膜、无骨质减少、无过多缝间骨或伴有干骺端骨折的情况下发生。此外，我们报告了39例有特殊病史的患者，其骨折仅发生在出生后的第一年。肋骨骨折、干骺端异常和骨膜反应很常见。如果骨折发生在医院，最初诊断通常为OI，但如果看起来是在家中受伤，则诊断为NAI。这些患者常伴有贫血、呕吐、肝肿大和呼吸暂停发作等其他表现。这种疾病与婴儿铜缺乏综合征有一些相似之处。与后者一样，它在早产儿和双胞胎中尤为常见。因此，我们正在尝试检测未选择的早产儿中严重低铜血症的发生率。我们认为这种“暂时性脆性骨病”的可能原因是一种参与胶原蛋白翻译后加工的酶，可能是一种金属酶，出现暂时性缺乏。
