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Neuropathologic Changes in Sudden Unexplained Death in Childhood
- Source :
- J Neuropathol Exp Neurol
- Publication Year :
- 2020
- Publisher :
- Oxford University Press (OUP), 2020.
-
Abstract
- Sudden unexplained death in childhood (SUDC) affects children >1-year-old whose cause of death remains unexplained following comprehensive case investigation and is often associated with hippocampal abnormalities. We prospectively performed systematic neuropathologic investigation in 20 SUDC cases, including (i) autopsy data and comprehensive ancillary testing, including molecular studies, (ii) ex vivo 3T MRI and extensive histologic brain samples, and (iii) blinded neuropathology review by 2 board-certified neuropathologists. There were 12 girls and 8 boys; median age at death was 33.3 months. Twelve had a history of febrile seizures, 85% died during apparent sleep and 80% in prone position. Molecular testing possibly explained 3 deaths and identified genetic mutations in TNNI3, RYR2, and multiple chromosomal aberrations. Hippocampal abnormalities most often affected the dentate gyrus (altered thickness, irregular configuration, and focal lack of granule cells), and had highest concordance between reviewers. Findings were identified with similar frequencies in cases with and without molecular findings. Number of seizures did not correlate with hippocampal findings. Hippocampal alterations were the most common finding on histological review but were also found in possibly explained deaths. The significance and specificity of hippocampal findings is unclear as they may result from seizures, contribute to seizure pathogenesis, or be an unrelated phenomenon.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Concordance
Autopsy
Neuropathology
Hippocampal formation
Hippocampus
Pathology and Forensic Medicine
Pathogenesis
TNNI3
Death, Sudden
03 medical and health sciences
Cellular and Molecular Neuroscience
0302 clinical medicine
Humans
Medicine
Child
030304 developmental biology
Cause of death
0303 health sciences
business.industry
Dentate gyrus
Brain
Infant
Original Articles
General Medicine
Neurology
Child, Preschool
Female
Neurology (clinical)
business
Sudden Infant Death
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15546578 and 00223069
- Volume :
- 79
- Database :
- OpenAIRE
- Journal :
- Journal of Neuropathology & Experimental Neurology
- Accession number :
- edsair.doi.dedup.....5a30c83c0abb3d314cfc011e34000447