Charis Kepron, 1 M.D.; Gino R. Somers, 1,2 M.B.B.S., Ph.D.; and Michael S. Pollanen, 1,3 M.D., Ph.D. Sickle Cell Trait Mimicking Multiple Inflicted Injuries in a 5-Year-Old Boy ABSTRACT: Sickle cell disease (SCD) and sickle cell trait (SCT) can be associated with sudden unexpected death in the pediatric population, usually due to pulmonary complications occurring within the acute chest syndrome (ACS). Musculoskeletal complications can occur and are classi- cally limited to bone infarcts. The occurrence of bone pathology centered upon the epiphyseal growth plate in SCD ⁄ SCT is extremely rare, and multiple such injuries in a single patient have not been previously reported. Herein, we describe a case of sudden unexpected death in a 5-year-old child with undiagnosed SCT due to the ACS, with widespread epiphyseal and periosteal bone lesions mimicking multiple inflicted injuries at autopsy. This case highlights the importance of clinicopathological correlation and is the first to describe SCT pathology as a mimic of nonaccidental injury. KEYWORDS: forensic science, forensic pathology, sickle cell trait, pediatric, acute chest syndrome, skeletal injury, sudden death Many medical conditions are of importance to pediatricians, radi- ologists, and pathologists as potential mimics of inflicted injury in infants and children. Well-known examples of such diseases include osteogenesis imperfecta, Staphylococcus scalded skin syn- drome, and the various coagulopathies. Sickle cell disease (SCD), and to a lesser degree, sickle cell trait (SCT), are well described within the forensic pathology literature as causes of sudden, unexpected death in children (1,2). Complica- tions of SCD ⁄ SCT are not usually on the differential diagnosis of traumatic injury. Here, we report a case of sudden unexpected death in a 5-year-old child due to pulmonary complications of SCT, and in whom the pattern of bone lesions seen at autopsy mimicked multiple inflicted injuries. Patient Presentation Clinical History A 5-year-old boy of Ghanaian origin was reportedly well except for a dry cough that was initially noted on the morning of the day he died. He had been given a single dose of an over-the-counter cough medication in the early evening, and on his way to bed began to vomit. His parents described copious vomiting from the nose and mouth, and EMS was called. Paramedics arrived to find the child with no vital signs and it appeared to them at the time of initial assessment that he had aspirated. Intubation attempts in the field were unsuccessful; therefore, the boy was bag-ventilated until his arrival at the nearest Emergency Department (ED) c. 30 min after the onset of vomiting. He was successfully intubated in the ED, and during the resuscitation efforts it was noted that his abdo- men appeared distended, a sign that appeared to worsen over the course of treatment. The anesthetist involved reported thick secre- tions in the airway and high airway resistance. The resuscitation attempt was unsuccessful and the boy was declared dead 30 min after arriving in the ED. There were no signs of injury, and the child appeared well cared for. Past medical history was significant only for autism, with moder- ate to severe global developmental disorder, and although the boy did not speak he was ambulatory and able to follow instructions. During the 3 weeks prior to death, the decedent had been brought to his family physician’s office three times with a complaint of left leg pain. Radiographs on two separate days showed only mild soft tissue swelling near the midshaft of the left tibia with no evidence of fractures, arthritic changes, or other bony abnormality. Although the original reports from these imaging studies were obtained from the family physician, the films themselves were not retrospectively reviewed. There was no history of SCD in the decedent or in any first-degree relatives, although it is unknown whether the parents had undergone screening for SCD prior to immigrating to Canada. His only sibling, an older brother, had also been diagnosed with autism, but there were no symptoms to suggest a coexistent hemo- globinopathy. The sibling was subsequently screened for SCD (see below) and was found to be positive for SCT. Appropriate clinical follow-up has been arranged. Autopsy Findings An autopsy was performed 14 h after death. A skeletal survey performed during the autopsy was highly suggestive of multifocal metaphyseal fractures of the left humerus, right ulna, bilateral radii, bilateral femora, and bilateral tibiae (Fig. 1). There were no definite features of healed fractures. Characteristic radiologic features of vitamin C or D deficiency were not identified. On external exami- nation, the only abnormalities were small gingival abrasions attrib- utable to intubation during the resuscitation attempt. On internal examination, the most striking findings were in the respiratory and musculoskeletal systems. An endotracheal tube was in situ and filled with thick secretions and gastric contents. Gastric contents were also found within the esophagus, trachea, mainstem bronchi and smaller, intrapulmonary airways. The right and left lungs weighed 293 and 126 g, respectively, and the right lower lobe was pale, consolidated, and focally hemorrhagic. There was a 1 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. 2 Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada. 3 Office of the Chief Coroner, 26 Grenville St., Toronto, ON, Canada. Received 9 July 2008; and in revised form 19 Sept. 2008; accepted 2 Oct. 2008. J Forensic Sci, September 2009, Vol. 54, No. 5 doi: 10.1111/j.1556-4029.2009.01098.x Available online at: www.blackwell-synergy.com Ó 2009 American Academy of Forensic Sciences 1141