Kinney Hannah C, Poduri Annapurna H, Cryan Jane B, Haynes Robin L, Teot Lisa, Sleeper Lynn A, Holm Ingrid A, Berry Gerald T, Prabhu Sanjay P, Warfield Simon K, Brownstein Catherine, Abram Harry S, Kruer Michael, Kemp Walter L, Hargitai Beata, Gastrang Joanne, Mena Othon J, Haas Elisabeth A, Dastjerdi Roya, Armstrong Dawna D, Goldstein Richard D
From the Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (HCK, RLH, LT, RD); Epilepsy Genetics Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (AHP); Division of Neuropathology, Beaumont Hospital, Dublin, Ireland (JBC); Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (LAS); Department of Genetics and Genomic Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (IAH, GTB, CB); Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (SPP, SKW); Division of Child Neurology, Nemours Children's Specialty Care, Jacksonville, Florida (HAS); Barrow Neurological Institute, Phoenix Children's Hospital, Department of Child Health, University of Arizona College of Medicine Phoenix Children's Hospital, Phoenix, Arizona (MK); Department of Pathology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, North Dakota (WLK); Department of Cellular Pathology Birmingham Women's Hospital, Birmingham, UK (BH); Division of Mental Health and Wellbeing, University of Warwick, and Coventry and Warwickshire Partnership NHS Trust, Coventry, UK (JG); Office of the Medical Examiner, County of San Diego, California (OJM); Department of Pathology, Rady Children's Hospital, San Diego, California (EAH); Department of Pathology, Baylor College of Medicine, Retired Professor of Pathology, Houston, Texas (DDA); Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Department of Medicine, Boston Children's Hospital, and Harvard Medical School, Boston, Massachusetts (RDG)
From the Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (HCK, RLH, LT, RD); Epilepsy Genetics Program, Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (AHP); Division of Neuropathology, Beaumont Hospital, Dublin, Ireland (JBC); Department of Cardiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (LAS); Department of Genetics and Genomic Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (IAH, GTB, CB); Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts (SPP, SKW); Division of Child Neurology, Nemours Children's Specialty Care, Jacksonville, Florida (HAS); Barrow Neurological Institute, Phoenix Children's Hospital, Department of Child Health, University of Arizona College of Medicine Phoenix Children's Hospital, Phoenix, Arizona (MK); Department of Pathology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, North Dakota (WLK); Department of Cellular Pathology Birmingham Women's Hospital, Birmingham, UK (BH); Division of Mental Health and Wellbeing, University of Warwick, and Coventry and Warwickshire Partnership NHS Trust, Coventry, UK (JG); Office of the Medical Examiner, County of San Diego, California (OJM); Department of Pathology, Rady Children's Hospital, San Diego, California (EAH); Department of Pathology, Baylor College of Medicine, Retired Professor of Pathology, Houston, Texas (DDA); Department of Psychosocial Oncology and Palliative Care, Dana-Farber Cancer Institute, Department of Medicine, Boston Children's Hospital, and Harvard Medical School, Boston, Massachusetts (RDG).
J Neuropathol Exp Neurol. 2016 Oct;75(10):981-997. doi: 10.1093/jnen/nlw075. Epub 2016 Sep 9.
Sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC) are defined as sudden death in a child remaining unexplained despite autopsy and death scene investigation. They are distinguished from each other by age criteria, i.e. with SIDS under 1 year and SUDC over 1 year. Our separate studies of SIDS and SUDC provide evidence of shared hippocampal abnormalities, specifically focal dentate bilamination, a lesion classically associated with temporal lobe epilepsy, across the 2 groups. In this study, we characterized the clinicopathologic features in a retrospective case series of 32 children with sudden death and hippocampal formation (HF) maldevelopment. The greatest frequency of deaths was between 3 weeks and 3 years (81%, 26/32). Dentate anomalies were found across the pediatric age spectrum, supporting a common vulnerability that defies the 1-year age cutoff between SIDS and SUDC. Twelve cases (38%) had seizures, including 7 only with febrile seizures. Subicular anomalies were found in cases over 1 year of age and were associated with increased risk of febrile seizures. Sudden death associated with HF maldevelopment reflects a complex interaction of intrinsic and extrinsic factors that lead to death at different pediatric ages, and may be analogous to sudden unexplained death in epilepsy.
婴儿猝死综合征（SIDS）和儿童不明原因猝死（SUDC）被定义为尽管经过尸检和死亡现场调查仍无法解释的儿童突然死亡。它们通过年龄标准相互区分，即SIDS发生在1岁以下儿童，SUDC发生在1岁以上儿童。我们对SIDS和SUDC的单独研究提供了证据，表明这两组患者存在共同的海马体异常，特别是局灶性齿状双分层，这是一种典型的与颞叶癫痫相关的病变。在本研究中，我们对32例突然死亡且海马结构（HF）发育异常的儿童进行回顾性病例系列研究，以明确其临床病理特征。死亡发生频率最高的年龄段为3周龄至3岁（81%，26/32）。齿状异常在儿童各年龄段均有发现，这支持了一种常见的易感性，该易感性不受SIDS和SUDC之间1岁年龄界限的限制。12例（38%）出现癫痫发作，其中7例仅为热性惊厥。1岁以上病例发现有海马下脚异常，且与热性惊厥风险增加有关。与HF发育异常相关的突然死亡反映了内在和外在因素的复杂相互作用，这些因素导致不同儿童年龄阶段的死亡，并且可能类似于癫痫中的不明原因猝死。
