Bone Abstracts

Temporary brittle bone disease has been a controversial explanation of multiple unexplained fractures in early childhood. Evidence for its existence is growing. We report the clinical and laboratory features of 104 patients investigated personally. These patients had in aggregate 984 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. 140 fractures were diaphyseal including 81 transverse fractures. Few patients had evidence of bruising at presentation; none had clinical evidence of inflicted injury commensurate with the fractures found.

In several cases fractures took place while the children were in hospital. Unexplained bruising and sub-conjunctival haemorrhages also occurred in hospital, suggesting a collagen defect. Hernias were recorded; in most these resolved spontaneously, again suggesting a transient collagen defect. 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 disorder and that they are not the victims of non-accidental injury. The potential causes of this disorder including rickets, scurvy and copper deficiency will be discussed. While the causes remain unclear, its characteristic features should be recognised.