Paterson Colin R, Monk Elizabeth A
J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):37-45. doi: 10.1515/jpem-2013-0120.
Temporary brittle bone disease has been described since 1990. It is a syndrome characterised by multiple unexplained fractures in early childhood. There is growing evidence that it has natural causes and does not represent inflicted trauma. We report the clinical and laboratory features of 104 patients investigated personally between 1985 and 2000. These patients had in aggregate 976 fractures or fracture-like lesions. Our patients included disproportionate numbers of infants born preterm or as a result of multiple pregnancy. The fractures were mainly identified in the first 6 months of life and entirely within the first year of life. Most fractures were asymptomatic, particularly the many rib fractures and metaphyseal lesions. Few patients had evidence of bruising at presentation; none had clinical evidence of inflicted injury commensurate with the fractures found. In 22 patients the fractures were found in the course of investigation for unrelated symptoms. In several cases fractures took place while the children were in hospital. Unexplained bruising and sub-conjunctival haemorrhages also occurred in hospital, suggesting collagen defects. Hernias were recorded; in most these resolved spontaneously, again suggesting transient collagen defects. Among the unexplained symptoms of the patients was a history of vomiting, often projectile vomiting. Some patients had unusually blue or grey sclerae for the child's age. Many patients had abnormally large anterior fontanelles. Laboratory findings included anaemia, neutropenia and an exceptionally high serum alkaline phosphatase. Our findings reinforce the view that children with temporary brittle bone disease have a distinctive and identifiable syndrome which probably includes osteopathy of prematurity. These patients do not have osteogenesis imperfecta and are not the victims of non-accidental injury. While the causes of this syndrome remain uncertain, its distinctive features should now be more readily recognised.
自1990年以来，人们开始描述暂时性脆性骨病。它是一种综合征，其特征为儿童早期出现多处不明原因的骨折。越来越多的证据表明，它是由自然原因引起的，并非外伤所致。我们报告了1985年至2000年间亲自调查的104例患者的临床和实验室特征。这些患者总共出现了976处骨折或骨折样病变。我们的患者中，早产或多胎妊娠出生的婴儿数量不成比例。骨折主要发生在出生后的前6个月内，且全部发生在出生后的第一年内。大多数骨折没有症状，尤其是许多肋骨骨折和干骺端病变。很少有患者在就诊时出现瘀伤迹象；没有患者有与所发现骨折相称的外伤临床证据。在22例患者中，骨折是在因无关症状进行检查的过程中发现的。在几例病例中，骨折发生在儿童住院期间。住院期间还出现了不明原因的瘀伤和结膜下出血，提示存在胶原蛋白缺陷。记录到有疝气；大多数疝气会自行消失，这再次提示存在短暂的胶原蛋白缺陷。患者的不明原因症状包括呕吐史，通常为喷射性呕吐。一些患者的巩膜颜色对于其年龄来说异常发蓝或发灰。许多患者的前囟门异常大。实验室检查结果包括贫血、中性粒细胞减少和血清碱性磷酸酶异常升高。我们的研究结果强化了这样一种观点，即患有暂时性脆性骨病的儿童有一种独特且可识别的综合征，其中可能包括早产性骨病。这些患者没有成骨不全症，也不是非意外伤害的受害者。虽然这种综合征的病因仍不确定，但现在应该更容易识别其独特特征。
