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Atelencephalic aprosencephaly

C P Harris1, J J Townsend, M G Norman

  • 1Department of Pathology, University of Utah, Salt Lake City.

Journal of Child Neurology
|October 1, 1994
PubMed
Summary
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Two rare cases of atelencephalic aprosencephaly, a severe brain malformation, were identified. These findings highlight a spectrum of congenital brain anomalies between atelencephaly and aprosencephaly.

Area of Science:

  • Developmental neuroscience
  • Congenital malformations
  • Fetal neuropathology

Background:

  • Aprosencephaly is defined by the absence of the telencephalon and diencephalon.
  • Atelencephaly involves the absence of only the telencephalon.
  • Atelencephalic aprosencephaly includes a rudimentary diencephalon and occurs after optic vesicle formation but before cerebral vesicle appearance.

Observation:

  • Two fetuses with atelencephalic aprosencephaly were examined.
  • One fetus, 25 weeks gestational age, was initially diagnosed with anencephaly.
  • The second fetus, 19 weeks gestational age, was suspected of having holoprosencephaly.

Findings:

  • Neuropathologic examination revealed near-complete absence of cerebral hemispheres and an incomplete diencephalon in both fetuses.

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  • Microscopic analysis showed disorganized neuropil and proliferative vasculopathy in one case.
  • Both cases exhibited fully formed optic globes with hypoplastic optic nerves, retinal dysplasia, and one with bilateral colobomata.

    • Implications:

    • These cases illustrate a spectrum of congenital brain anomalies between atelencephaly and aprosencephaly.
    • The findings underscore the complexity of brain development and associated congenital anomalies.
    • Further research is needed to understand the embryological basis and clinical spectrum of these rare conditions.