Child abuse and/or osteogenesis imperfecta? The challenging management of patients with unclear diagnosis.

386 May 2021, Vol. 111, No. 5 Child abuse and/or osteogenesis imperfecta? The challenging management of patients with unclear diagnosis To the Editor: A young mother presented to the trauma unit at Red Cross War Memorial Children’s Hospital, Cape Town, South Africa (SA) with her 7-month-old female baby, who had a large left-sided parietal swelling. She reported that the baby had fallen from her arms when she was exiting a minibus 4 days earlier. However, she claimed that she had only noted the swelling on the day she presented at our hospital. There was no history of loss of consciousness, seizures or vomiting. The baby was playful and feeding well. On physical examination, a large and fluctuating left parietal scalp haematoma was detected. A computed tomography scan of the brain showed three parietal skull fractures: an acute fracture with significant overlying scalp swelling and underlying subdural haemorrhage, and two older fractures without scalp soft-tissue swelling (Fig. 1). The baby was admitted to the trauma ward for neurological observation and a multidisciplinary non-accidental injury (NAI) work-up. A skeletal survey revealed four more fractures: a bilateral healed tibial corner fracture (Fig. 2), an older right femoral metaphyseal fracture (Fig. 3), and a wedge compression fracture at the height of T11 (Fig. 4). Retinoscopy revealed no evidence of retinal haemorrhage. After admission we noticed that the baby had greyblue sclera, in particular when compared with her mother (Fig. 5), which can be a spot diagnosis for osteogenesis imperfecta (OI), a rare genetic disorder associated with abnormal synthesis of type I collagen resulting in an increased risk of fractures. We consulted the genetics department at the hospital. They noted other typical symptoms of OI, including short stature and relative macrocephaly. During the interview with the social worker, the patient’s parents vehemently denied any sort of abuse or neglect. The Department of Social Development visited the patient’s home and interviewed the people living on the premises, concluding that it was a suitable home for the baby. We reported the case to the local police authority and an investigation was opened, but the prosecutor determined that there was no reasonable prospect of success and the case was closed. Under our care the baby was smiling and playful, showing no signs of developmental delay or lasting damage from the intracranial bleeding that she had sustained. After the Department of Social Development had deemed the family’s care appropriate for the child and there was no further action from the police, the patient was discharged from the trauma ward. We followed her up closely, initially weekly and later monthly, to monitor for any new injuries. Clinical examination during these follow-up visits did not suggest any new injuries. Eventually she was lost to follow-up. It can be difficult to distinguish between symptoms of OI and child abuse. The clinical picture of seven fractures, including two corner fractures and a subdural haemorrhage, in a non-walking infant aged 7 months, described above, indicated that abuse was the most likely origin of the injuries. NAIs are frequently seen in paediatric trauma This open-access article is distributed under Creative Commons licence CC-BY-NC 4.0.