Cerebellar heterotopia of infancy in sudden infant death syndrome: an observational neuropathological study of four case
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ORIGINAL ARTICLE
Cerebellar heterotopia of infancy in sudden infant death syndrome: an observational neuropathological study of four cases Jakob Matschke 1,2
&
Jan-Peter Sperhake 3 & Nadine Wilke 3,4 & Klaus Püschel 3 & Markus Glatzel 2
Received: 25 March 2020 / Accepted: 8 May 2020 # The Author(s) 2020
Abstract Sudden infant death syndrome (SIDS) is the sudden unexpected death of an infant < 1 year of age that remains unexplained after comprehensive workup including complete autopsy and investigation of the circumstances of death. The triple risk hypothesis posits that SIDS results as a combination of both intrinsic and extrinsic factors on the background of a predisposing vulnerability. Neuropathological examination in the past has focussed mainly on the brainstem as the major player in respiratory control, where subtle findings have been linked to the chain of events leading to death in SIDS. The cerebellum has received less attention, probably due to an assumed negligible role in central cardiorespiratory control. We report four cases of SIDS in which neuropathological investigation revealed cerebellar heterotopia of infancy, a distinct malformation of the cerebellum, and discuss the potential impact of this condition on the aetiology and pathogenesis of SIDS. Keywords SIDS . Forensic neuropathology . Malformations of the central nervous system . Arousal circuits
Introduction Sudden infant death syndrome (SIDS) is defined as any sudden unexpected death of an infant < 1 year of age “with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation, including performance of a complete autopsy and review of the circumstances of death and the clinical history” [1–3]. According to the classical triple risk model, SIDS occurs when an infant is exposed to the simultaneous occurrence of (a) an intrinsic, predisposing vulnerability, (b)
* Jakob Matschke [email protected] 1
Forensic Neuropathology Unit, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
2
Institute of Neuropathology, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
3
Institute of Legal Medicine, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany
4
Institute of Legal Medicine, University Hospital Schleswig-Holstein, Campus Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany
during a critical developmental period, and (c) an additional extrinsic factor, e.g., sleeping in the prone position [4]. Due to a failure of physiological arousal and/or autoresuscitation, the endangered infant falls into progressive asphyxia resulting in hypoxic coma and, eventually, death [5]. It is widely believed that many SIDS cases harbour defects in brainstem-mediated protective responses to possible life-threatening events during sleep [6]. Accordingly, various morphological and biochemical abnormalities have been described in the brainstem of SIDS victims, particularly concerning serotonergic trans
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