Developmental alterations of the respiratory human retrotrapezoid nucleus in sudden unexplained fetal and infant death

Anna M. Lavezzi*, Debra E. Weese-Mayer, Margaret Y. Yu, Lawrence J. Jennings, Melissa F. Corna, Valentina Casale, Roberta Oneda, Luigi Matturri

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


The study aims were twofold: 1) identify the localization and the cytoarchitecture of the retrotrapezoid nucleus (RTN) in the human fetus and infant and 2) ascertain if the RTN, given its essential role in animal studies for the maintenance of breathing and chemoreception, showed abnormalities in victims of sudden perinatal and infant death (sudden intrauterine unexplained death/SIUD - and sudden infant death syndrome/SIDS). We examined SIDS and SIUD cases and Controls (n = 58) from 34 gestational weeks to 8. months of postnatal age by complete autopsy, in-depth autonomic nervous system histological examination, and immunohistochemical analysis of the PHOX2B gene, a transcriptional factor involved in Congenital Central Hypoventilation Syndrome that has been defined as a marker of rat RTN neurons.We identified a group of PHOX2B-immunopositive neurons within the caudal pons, contiguous to the facial/parafacial complex, in 90% of Controls, likely the homologous human RTN (hRTN). We observed structural and/or PHOX2B-expression abnormalities of the hRTN in 71% of SIUD/SIDS cases vs 10% of Controls (p < 0.05).In conclusion we suggest that developmental abnormalities of the hRTN may seriously compromise chemoreception control, playing a critical role in the pathogenesis of both SIUD and SIDS.

Original languageEnglish (US)
Pages (from-to)12-19
Number of pages8
JournalAutonomic Neuroscience: Basic and Clinical
Issue number1-2
StatePublished - Sep 25 2012


  • Congenital Central Hypoventilation Syndrome
  • Human retrotrapezoid nucleus
  • PHOX2B
  • SIDS
  • SIUD

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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