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Temporary brittle bone disease has been proposed again as an alternative explanation for suspected non-accidental injury. This is still not considered a real entity by mainstream opinion. The recent publications remind us to look carefully for alternative explanations and to investigate for predisposing bone disorders thoroughly.
When a child presents with unexplained skeletal injury, the age, history of presentation and level of mobility of the child is important. The absence of a clear history to explain an injury raises the issue of non-accidental skeletal injury (NASI). It is also important to consider any underlying bone disorder that might predispose a bone fracturing with normal handling force.
NASI has medicolegal implications for children and parents. In the UK, experts must provide balanced and impartial evidence to assist the court. Lawyers are instructed by the various parties but the expert is independent. Against this background the judge balances contrary medical expert evidence and opinion. Many alternative explanations have to be considered. Courts are faced with issues of scientific hypothesis, leading edge research and epidemiological data but court is not the best arena for scientific discussion.
Paterson first proposed the concept of temporary brittle bone disease (TBBD) in 1993.1 He described a personal series of 39 children who had unexplained fractures in the first year of life. He proposed TBBD as a transient predisposition to fracture with normal handling force, without any bruising, proven medical diagnosis or biochemical abnormality. They suggested this was due to temporary immaturity or fragility of collagen related to trace element deficiency (eg, copper) or transient osteogenesis imperfecta (OI). They provided no specific test to confirm TBBD. There was no complete data table on their 39 cases and there was a lack of comprehensive bone biochemistry results. TBBD presented a theoretical and attractively benign explanation for suspected NASI …