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Arhinencephaly (holoprosencephaly) associated with external hydrocephaly.
Acta Pathologica Japonica
|November 1, 1977
Summary
A premature infant with a cleft palate died due to severe brain malformations, including arhinencephaly and hydrocephaly. Autopsy revealed significant developmental abnormalities in the brain structures.
Area of Science:
- Neurology
- Developmental Biology
- Pediatric Pathology
Background:
- A female infant born at 33 weeks gestation presented with a cleft palate.
- Postnatal development was complicated by hypothermia, spasticity, and respiratory depression.
Observation:
- Clinical examination did not suggest significant brain malformations.
- Autopsy revealed external hydrocephaly (400 ml) and a small arhinencephalic brain (75 g).
Findings:
- The diencephalon showed poor growth, while the rhombencephalon was relatively well-developed.
- Absence of olfactory bulbs and tracts in the telencephalon was noted.
- Enlarged lateral and fourth ventricles, absence of the third ventricle, and abnormal communication pathways were observed, consistent with holoprosencephaly.
Implications:
- This case highlights the spectrum of brain malformations in severe holoprosencephaly.
- It underscores the importance of detailed neuropathological examination in cases of unexplained neonatal demise.
- The findings contribute to understanding the developmental impact of disrupted forebrain patterning.