Meher Vedashree R, Huntsman Richard J, Green Francis H Y, Wooff Jill C, Auer Roland N
Division of Anatomical Pathology, Department of Pathology, College of Medicine, University of Saskatchewan, Royal University Hospital, 103 Hospital Drive, Saskatoon, SK S7N 0W8, Canada.
Division of Pediatric Neurology, IWK Health Centre, 5850/5980 University Avenue, Halifax, NS B3K 6R8, Canada.
Pathophysiology. 2025 Jan 10;32(1):3. doi: 10.3390/pathophysiology32010003.
: Cause of death analysis is fundamental to forensic pathology. We present the case of a 9½-year-old girl with a genetically confirmed diagnosis of Dravet syndrome who died in her sleep with no evidence of motor seizure. She also had a lifelong history of recurrent pneumonias and, along with her family, had tested positive for COVID-19 10 days before death. : Long-term clinical history of Dravet Syndrome and respiratory infections were obtained from patient's medical charts and radiology reports. A Rapid-Antigen Test was used to confirm SARS-CoV2 infection days prior to death. At autopsy, brain, heart and lung tissues were obtained. Paraffin-embedded tissues were double-stained with H&E, and immunohistochemically stained using various antibodies. : Autopsy revealed evidence of previous seizure activity in the brain and cellular interstitial thickening in the lung. The brain showed edema and fibrillary gliosis without neuronal loss in neocortex and hippocampus. The lung showed inflammatory interstitial thickening with histiocytes, megakaryocytes, B-lymphocytes, and T-lymphocytes, including helper/suppressor cells and cytotoxic T-lymphocytes. Diffuse alveolar damage was observed as alveolar flooding with proteinaceous fluid. : The cause of death may be attributed to Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet syndrome, sudden death in viral pneumonia, or some combination of the two. When two independent risk factors for sudden unexpected death are identified due to co-pathology, it may not be possible to determine a single cause of death beyond a reasonable doubt.
死因分析是法医病理学的基础。我们报告一例9岁半女孩的病例,该女孩基因检测确诊为德拉韦综合征,在睡眠中死亡,无运动性癫痫发作的证据。她还有复发性肺炎的终生病史,并且在死亡前10天与其家人新冠病毒检测呈阳性。
从患者的病历和放射学报告中获取了德拉韦综合征和呼吸道感染的长期临床病史。在死亡前几天使用快速抗原检测来确认SARS-CoV-2感染。尸检时,获取了脑、心脏和肺组织。石蜡包埋组织进行苏木精-伊红(H&E)双重染色,并使用各种抗体进行免疫组织化学染色。
尸检显示大脑有既往癫痫活动的证据,肺部有细胞间质性增厚。大脑显示有水肿和纤维性胶质增生,新皮质和海马体无神经元丢失。肺部显示有炎性间质增厚,伴有组织细胞、巨核细胞、B淋巴细胞和T淋巴细胞,包括辅助/抑制细胞和细胞毒性T淋巴细胞。观察到弥漫性肺泡损伤,表现为肺泡内充满蛋白质性液体。
死因可能归因于德拉韦综合征中的癫痫性意外猝死(SUDEP)、病毒性肺炎猝死或两者的某种组合。当由于合并病理情况而确定了两个独立的意外猝死风险因素时,可能无法在排除合理怀疑的情况下确定单一死因。