Cerebellar heterotopia of infancy in sudden infant death syndrome: an observational neuropathological study of four cases

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.

Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome

“…Cerebellum has also been reported in a recent case series of four infant deaths and upon investigation, cerebellar heterotopia of infancy was found which is a distinct malformation of the cerebellum. It should be further explored (147). Exome sequencing was done in 10 SIDS cases and SCN1A was identified in two victims with hippocampal abnormalities.…”