Utility of balanced steady-state field precession sequence in the evaluation of retinal and subdural hemorrhages in patients with abusive head trauma.

Abusive head trauma is the leading cause of physical child abuse deaths in children under 5 years of age in the United States. To evaluate suspected child abuse, radiologic studies are typically the first to identify hallmark findings of abusive head trauma including intracranial hemorrhage, cerebral edema, and ischemic injury. Prompt evaluation and diagnosis are necessary as findings may change rapidly. Current imaging recommendations include brain magnetic resonance imaging with the addition of a susceptibility weighted imaging (SWI) sequence which can detect additional findings that suggest abusive head trauma including cortical venous injury and retinal hemorrhages. However, SWI is limited due to blooming artifacts and artifacts from the adjacent skull vault or retroorbital fat, which can affect the evaluation of retinal, subdural, and subarachnoid hemorrhages. This work explores the utility of the high-resolution, heavily T2 weighted balanced steady-state field precession (bSSFP) sequence to identify and characterize retinal hemorrhage and cerebral cortical venous injury in children with abusive head trauma. The bSSFP sequence provides distinct anatomical images to improve the identification of retinal hemorrhage and cortical venous injury.

COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.

Child abuse is a major public health concern that can explain a proportion of fractures in children. Osteogenesis imperfecta (OI) is the most common inherited syndrome that predisposes to skeletal fractures. We conducted a retrospective analysis of data from clinical, laboratory, and radiographic information from children evaluated for child abuse in which molecular testing for COL1A1 and COL1A2 genes was conducted. A total of 43 patients underwent molecular testing for OI. Pathogenic variants predicted to result in a mild form of OI were found in two patients (5%), both clinically suspected to have this diagnosis. None of the cases in whom OI molecular testing was ordered when maltreatment concerns were thought to be more likely (0/35) were identified to have pathogenic variants. After reviewing each individual case, the final diagnosis was child abuse for 34 cases (77%), and additional radiographic and laboratory studies did not identify any with inherited metabolic predisposition to fracture or rickets. We conclude that routine testing for OI in the setting of child abuse when no other suggestive clinical findings are present has a low yield. A careful review of the medical history and a detailed clinical evaluation help identify those at risk for genetic alterations. © 2016 Wiley Periodicals, Inc.