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Related Experiment Video

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Mesencephalosynapsis and aqueductal stenosis.

Yael Fisher1, Patrick Shannon1, Orli Greenberg1

  • 1Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada.

Journal of Neuropathology and Experimental Neurology
|December 10, 2024
PubMed
Summary

Mesencephalosynapsis, a brainstem malformation, is common in fetal hydrocephalus and linked to aqueductal stenosis. It often co-occurs with other congenital anomalies and has diverse genetic and environmental causes.

Keywords:
aqueductal stenosisfetal brainhydrocephalusmesencephalosynapsisrhombencephalosynapsisventriculomegaly

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Medical Genetics

Background:

  • Mesencephalosynapsis, characterized by non-cleavage of dorsal brainstem colliculi, is associated with ventriculomegaly and aqueductal stenosis.
  • Previous studies have not systematically examined the full spectrum of pathologies associated with mesencephalosynapsis.

Purpose of the Study:

  • To investigate the associations of aqueductal stenosis, mesencephalosynapsis, and other pathologies in a large cohort of fetal hydrocephalus cases.
  • To characterize the histological findings and clinical/genetic associations of mesencephalosynapsis.

Main Methods:

  • Retrospective review of 115 fetal hydrocephalus cases (15-41 weeks gestation).
  • Grading of aqueductal histology and assessment of associated central nervous system (CNS) anomalies.
  • Analysis of clinical and genetic data, including embryopathy, chromosomal abnormalities, and gene mutations.

Main Results:

  • Mesencephalosynapsis was observed in 44% of fetal obstructive hydrocephalus cases.
  • Mesencephalosynapsis was significantly associated with severe aqueductal histology (67% of cases).
  • Associated CNS anomalies (75% of cases) included rhombencephalosynapsis and holoprosencephaly; genetic links included diabetic embryopathy and TBCD132 mutations.

Conclusions:

  • Mesencephalosynapsis indicates a defect in embryonic brainstem patterning.
  • It can be an isolated finding or associated with diverse malformations and genetic conditions.
  • This study provides the largest review of fetal aqueductal stenosis histology to date.