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Related Experiment Videos

Aventriculi associated with holoprosencephaly

R N Sener1

  • 1Ege University Hospital, Department of Radiology, Bornova, Izmir, Turkey. rnsener@hotmail.com

Computerized Medical Imaging and Graphics : the Official Journal of the Computerized Medical Imaging Society
|December 5, 1998
PubMed
Summary

A rare brain malformation called aventriculi, characterized by fused hemispheres and absent ventricles, is described in a second patient. This case provides further insight into this severe congenital neurological condition.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Medical Imaging

Background:

  • Holoprosencephaly is a spectrum of brain malformations characterized by the incomplete separation of the forebrain.
  • Rhombencephalosynapsis involves the fusion of the cerebellar hemispheres.
  • Aventriculi is a recently described condition characterized by the absence of cerebral and cerebellar ventricles.

Observation:

  • This report details the second documented case of aventriculi.
  • The patient is a 1-month-old girl diagnosed via Magnetic Resonance (MR) imaging.
  • The imaging revealed fusion of the cerebral hemispheres (holoprosencephaly) and cerebellar hemispheres (rhombencephalosynapsia).

Findings:

  • The defining characteristic of aventriculi, the absence of identifiable ventricles, was confirmed.

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  • This case expands the understanding of the phenotypic spectrum and imaging findings associated with aventriculi.
  • The MR imaging findings are consistent with the initial description of this rare condition.

    • Implications:

    • Further research is needed to understand the genetic and developmental mechanisms underlying aventriculi.
    • This case highlights the importance of advanced neuroimaging techniques in diagnosing rare brain malformations.
    • Understanding such conditions can aid in genetic counseling and family planning for affected individuals.