Details

Autor(en) / Beteiligte

• Hefti, Marco M.
• Cryan, Jane B.
• Haas, Elisabeth A.
• Chadwick, Amy E.
• Crandall, Laura A.
• Trachtenberg, Felicia L.
• Armstrong, Dawna D.
• Grafe, Marjorie
• Krous, Henry F.
• Kinney, Hannah C.

Titel

Hippocampal malformation associated with sudden death in early childhood: a neuropathologic study: Part 2 of the investigations of The San Diego SUDC Research Project

Ist Teil von

• Forensic science, medicine, and pathology, 2016-03, Vol.12 (1), p.14-25

Ort / Verlag

New York: Springer US

Erscheinungsjahr

2016

Link zum Volltext

Quelle

SpringerLink (Online service)

Beschreibungen/Notizen

• Purpose Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of unexpected deaths in children >1 year of age. Previously we reported an association between febrile seizures, hippocampal maldevelopment, and sudden, unexpected deaths in young children (1–6 years), termed “hippocampal maldevelopment associated with sudden death (HMASD).” Here, we characterize in greater detail the hippocampal pathology in a large cohort of cases ( n  = 42) of this entity, and attempt to define possible new entities responsible for sudden, unexplained death in young children without HMASD/febrile seizure phenotypes. Methods We performed comparative analysis on cases, which we classified in a cohort of 89 sudden and unexpected deaths as HMASD, explained deaths, SUDC with febrile seizure phenotype (SUDC-FS) but without hippocampal pathology, and SUDC (without hippocampal pathology or febrile seizure phenotype). Results The frequency of each subgroup was: HMASD 48 % (40/83); SUDC 27 % (22/83); SUDC-FS 18 % (15/83); explained 7 % (6/83). HMASD was characterized clinically by sudden, sleep-related death, term birth, and discovery in the prone position. Key morphologic features of HMASD were focal granule cell bilamination of the dentate gyrus with or without asymmetry and/or malrotation of the hippocampus, associated with significantly increased frequencies of 11 other developmental abnormalities. We identified no other distinct phenotype in the unexplained categories, except for an association of febrile seizures without hippocampal maldevelopment. Conclusions HMASD is a distinct clinicopathologic entity characterized by a likely developmental failure of neuronal migration in the dentate gyrus. Future research is needed to determine the causal role of HMASD in sudden death in early childhood.