Brittle or battered?
Many pediatricians need to step up their game in understanding and diagnosing rare disease processes whose symptoms can mimic those of child abuse, said Matthew Cox, MD, FAAP, in his presentation "Brittle or battered? Medical evaluation of multiple fractures in young children" at the American Academy of Pediatrics National Conference.
Proper evaluation requires a detailed medical history, a comprehensive examination, laboratory evaluations, and radiographic evaluation and consultation with appropriate experts such as radiologists and orthopedic surgeons, he told attendees.
Along with vitamin D status, laboratory tests can detect or rule out inherited bone diseases, secondary hormone imbalances, and abnormalities in calcium or phosphorus that can occur with a primary bone disease, Cox said. Radiographs can reveal overt and sometimes covert problems such as fraying at the distal end of the metaphysis, osteopenia, and Wormian bones. Additionally, one must consider not only the child's history, but also a detailed family history—particularly parental history as it relates to musculoskeletal problems.
Cox said that misdiagnosing such problems can bring disastrous results for the child and/or family. Physicians may wrongly identify an underlying disease process as evidence of abuse, and vice versa. One case he described involved a child who presented with fractures of the femur and hand at the same visit. The child had a limited history of trauma. The child returned to the doctor with additional fractures that could not be readily explained and was placed in foster care.
This example illustrates the importance of parental history. The child's maternal history, which included osteogenesis imperfecta, initially was unknown. Fortunately, the pediatric radiologist's review of films caught the subtle findings of this disease.
In such cases, establishing a diagnosis rests not on any single feature, but on the entire constellation of medical findings. In distinguishing abuse from disease processes, Cox said, the underlying theme is that there are many potentially suspicious features, but nothing definitive. Successful diagnosis demands considering all pieces of information together.