In our case child abuse could have been excluded for the absence of clinical and radiographic signs characteristic of violence and the presence, instead, of a pattern suggestive for OI.
A high suspicion was present since the first access to the emergency department, represented by the blue sclerae and the Wormian bones.
Blue sclerae are an anomaly due to a reduction in thickness of scleral fibrous tissue that makes appear the blue colour of the uvea below. Blue sclerae could be normal in baby up to 4 months of age, but after this time they are a sign indicative for connective tissue alterations.
Wormian bones are perisutural accessory cranium bones. They could be simply an anatomic variant without any pathological impact or could be a marker of a specific syndrome, such as OI. Anyway, the contemporary presence of blue sclerae and wormian bones, that considered singularly are already rare in normal population, should have certainly lead the suspect of OI. This hypothesis could have been reinforced, in occasion of the subsequent access, analysing accurately fracture’s type and location.
In fact, voluntary inferred injuries have so characteristic location and radiographic pattern that lesions can be classified as of high, moderate or low specificity for child abuse (9
). According to this classification the lesions with the highest specificity for abuse are rib fractures and classical metaphyseal lesion.
Rib fracture has a predictive value of 95% for child abuse (10
), especially if posteromedial and when occurring in children with less than three years of age. The characteristic mechanism that they need to be produced is a compression around the chest accompanied by the act of squeezing anteriorly and posteriorly the thorax (11
). This type of fracture is extremely rare in patient with OI and it occurred generally only in the most severe forms but on lateral side.
Regarding the classical metaphyseal lesions, they are highly specific in children in their first year of life. The accepted mechanism for this type of fracture is violent shaking of a young child, causing a whiplash-type injury at the level of the zone of provisional calcification (12
). They have never been described in patient with OI.
In our patient none of the lesions occurred showed the character of high specificity for abuse. In fact, except for the first fracture involving cranium, all the other were at the level of long bone’s midshaft as typical for OI. In fact, the most brittle bone’s part in those patients, is represented by the midshaft and not by the phisys, where type I collagen is absent (14
). In addition all the other sign of abuse, such as bruises or burning were absent. Therefore in our patient the investigations should have been made looking for OI besides a condition of abuse.
However our case, although the diagnosis has been delayed, demonstrates as a rehabilitation process, through a specific and comprehensive physiotherapeutic approach, could anyway contribute to the optimal management of the disease, as shown by the improvement of GMFM scores. The Vojta method we adopted, due to its peculiarity of reproducing the physiological simulation of body structures, and being in keeping with the motor development milestones, represents a secure way to promote the spontaneous motility of the child and give the possibility to continue the therapy at home. The Vojta method a few decades ago was described as a constraining and hard method. The case shows as this method can be used in secure way in case of bone fragility since parents were trained to its application at home, establishing a deep and mild contact with their daughter without any fear of new traumas.
In conclusion our case demonstrates how in any child presenting multiple fractures, efforts should be made to consider all the causes even the rarest as OI. It is true that child abuse is pervasive while OI is a rare disease, but this last hypothesis has to be considered, since the consequences of a wrong diagnosis should be dramatic for the family accused (5