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Cerebral Abnormalities in Spina Bifida: A Neuropathological Study.

Fabienne Paschereit1,2, Kim Hannah Schindelmann1,2, Michael Hummel3

  • 1Institute of Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|October 6, 2021
PubMed
Summary

Spina bifida aperta (SBA) cases frequently show brain malformations like hydrocephalus and Chiari II, while spina bifida occulta (SBO) cases do not. Neuropathological analysis confirms these findings, highlighting early developmental anomalies.

Keywords:
Chiari II malformationheterotopiahydrocephalusmyelomeningocelemyeloschisisneural tube defectneuropathologyspina bifida

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Area of Science:

  • Neuropathology
  • Developmental Neuroscience
  • Medical Genetics

Background:

  • Spina bifida (SB) is the most common human neural tube defect.
  • This study systematically analyzes brain neuropathological findings in SB cases.

Purpose of the Study:

  • To systematically analyze and report the neuropathological findings of the brain in spina bifida aperta (SBA) and spina bifida occulta (SBO) cases.
  • To determine the prevalence and types of brain malformations associated with different forms of spina bifida.

Main Methods:

  • Retrospective re-evaluation of 79 SBA and 6 SBO autopsy cases from 1974-2000.
  • Analysis of case files and neuropathological sections of the spinal cord and brain.

Main Results:

  • 95% of SBA cases exhibited brain malformations; no brain malformations were found in SBO cases.
  • Common SBA brain anomalies included hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%).
  • Hydrocephalus was detected as early as gestational week 17 and strongly associated with Chiari II and ependymal denudation. 55% of SBA cases had non-CNS anomalies.

Conclusions:

  • Neuropathological examination confirms brain malformations in most SBA cases but not in SBO cases.
  • This study demonstrates a high prevalence of cerebellar malformations and cerebral heterotopias in SBA.
  • Early hydrocephalus and Chiari II malformation detection in fetuses suggests potential parallel development rather than strict sequential occurrence.