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Aprosencephaly and cerebellar dysgenesis in sibs
S R Florell1, J J Townsend, E C Klatt
1Department of Pathology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.
American Journal of Medical Genetics
|June 28, 1996
Summary
Aprosencephaly, a severe brain malformation, was observed in two related fetuses. Genetic factors are suspected due to identical findings and parental consanguinity in this rare condition.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Aprosencephaly is a rare, lethal central nervous system malformation.
- It is thought to result from a post-neuralation encephaloclastic process.
Observation:
- Autopsy findings in two fetuses from a consanguineous mating were consistent with aprosencephaly.
- Both fetuses exhibited anencephaly with intact crania and fused sutures.
- Identical neuropathologic findings included absence of the telencephalon and pyramidal tracts, rudimentary diencephalon/mesencephalon, primitive cerebellum, and neural migration abnormalities.
Findings:
- Both fetuses displayed a unique perivascular mesenchymal proliferation within the central nervous system.
- Retinal dysplasia was noted within normally formed globes.
- The identical findings in related fetuses suggest a genetic basis.
Implications:
- The findings suggest a primary malformation in brain development due to homozygous mutant allele representation.
- This may indicate a defect in a crucial gene for brain development.
- Further research is needed to elucidate the specific genetic cause.