Sudden death in a child with sickle cell disease and trisomy 21 due to invasive pneumococcal disease: a forensic case report
摘要
Fatal complication of invasive pneumococcal disease (IPD) in a patient affected by sickle cell disease (SCD) and trisomy 21 represents a major diagnostic and medico-legal challenge in forensic pathology. We report the forensic investigation of a four-year-old girl who collapsed at home after mild respiratory symptoms and died despite advanced resuscitation. A comprehensive postmortem examination performed under judicial mandate included full autopsy, microbiological cultures, histopathology, toxicology, and advanced hematological imaging. Blood culture and RT-PCR identified Streptococcus pneumoniae, and peripheral blood smear demonstrated sickled erythrocytes and intracellular Gram-positive diplococci, supporting overwhelming bacteremia. The cause of death was determined as fulminant pneumococcal septicemia in a child with SCD and trisomy 21. This case illustrates the pathophysiological sequence from nasopharyngeal colonization to invasive disease in an immunocompromised host and highlights the essential role of integrated forensic autopsy and laboratory diagnostics in establishing the cause of death. Furthermore, it emphasizes the medico-legal and preventive implications of incomplete vaccination and the need for strict adherence to prophylactic measures in high-risk pediatric populations.