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Related Experiment Videos

Dandy-Walker malformation: analysis of 38 cases.

I Pascual-Castroviejo1, A Velez, S I Pascual-Pascual

  • 1Service of Pediatric Neurology, Hospital, La Paz, Madrid, Spain.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|April 1, 1991
PubMed
Summary

Dandy-Walker malformation (DWM) is a complex midline central nervous system disorder with significant genetic heterogeneity. Early diagnosis and associated anomalies impact prognosis, with high early mortality and intellectual disability common in survivors.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Dandy-Walker malformation (DWM) is a congenital brain anomaly affecting the posterior fossa.
  • It is characterized by developmental abnormalities of the cerebellum and brainstem.
  • DWM often presents with other congenital defects, indicating a broader developmental field defect.

Purpose of the Study:

  • To present a case series of Dandy-Walker malformation.
  • To analyze clinical presentation, associated anomalies, and outcomes.
  • To highlight the heterogeneity and complexity of DWM.

Main Methods:

  • Retrospective review of 38 Dandy-Walker malformation cases.
  • Analysis of diagnostic timing, birth characteristics, associated malformations, and clinical outcomes.

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  • Inclusion of postmortem findings and follow-up data.

    • Main Results:

    • A female predominance (3:1) was observed in 38 DWM cases.
    • Most cases (84%) were diagnosed within the first year of life, with 44.7% at birth.
    • Frequent findings included macrocephaly (82%), associated malformations (e.g., capillary angioma, cardiac, ophthalmic), high early mortality (44.7%), and significant intellectual disability in survivors (58%).

    Conclusions:

    • Dandy-Walker malformation is a complex midline central nervous system disorder with substantial genetic and etiologic heterogeneity.
    • Associated intracranial and extracranial anomalies are common, underscoring its nature as a developmental field defect.
    • High early mortality and significant neurodevelopmental deficits characterize the DWM syndrome, emphasizing its complexity beyond isolated posterior fossa malformation.