Sudden Death of a Toddler With Rubinstein-Taybi Syndrome: Forensic Investigation and Pathophysiological Correlation

Sudden death in childhood is a particularly demanding subject of forensic investigation, especially when a known genetic syndrome coexists. We present the case of the sudden death of a three-year-old female toddler diagnosed with Rubinstein-Taybi syndrome, who was found pulseless and apneic at home and pronounced dead shortly after being transferred to a children's hospital. A comprehensive forensic investigation was conducted, including an autopsy, histological examination, and toxicological analysis. The histopathological findings revealed extensive lesions of severe bronchopneumonia with necrosis, abscess formation, and interstitial pneumonitis, without evidence of trauma or toxic etiology. The cause of death was attributed to severe respiratory infection in a child with Rubinstein-Taybi syndrome. Although immunological abnormalities have been described in some patients with Rubinstein-Taybi syndrome, no direct immunological evaluation was available in the present case. The case highlights the importance of individualized evaluation of pediatric deaths and the correlation of clinical, genetic, and pathologic data.