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Related Experiment Videos

Aventriculi associated with holoprosencephaly.

Sushil Kumar1, Awadhesh Kumar Jaiswal, Manu Rastogi

  • 1Department of Neurosurgery, St. Stephen's Hospital, Tis Hazari, Delhi, India.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|March 21, 2006
PubMed
Summary

This study reports a rare case of absent ventricles and fused cerebral hemispheres in an 18-month-old child with developmental delays. This condition highlights a severe congenital brain malformation impacting neurological development.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Radiology

Background:

  • Congenital brain malformations represent a spectrum of structural abnormalities affecting neurodevelopment.
  • Understanding the etiology and phenotypic variability of these conditions is crucial for diagnosis and management.

Observation:

  • An 18-month-old male child presented with significant global developmental delays.
  • Magnetic Resonance Imaging (MRI) was performed to investigate the underlying cause of the delayed milestones.

Findings:

  • The MRI revealed a complete absence of the lateral and third ventricles.
  • Additionally, a fusion of the posterior cerebral hemispheres was observed, indicating a severe holoprosencephaly spectrum disorder or related malformation.
  • These findings represent a rare and severe form of forebrain development anomaly.

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Implications:

  • This case underscores the importance of advanced neuroimaging in diagnosing rare congenital brain anomalies.
  • The observed malformation provides insights into critical developmental pathways and their disruption.
  • Further research into the genetic and environmental factors contributing to such severe brain malformations is warranted.