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Related Experiment Videos

White matter alterations associated with chromosomal disorders.

Angels García-Cazorla1, Anna Sans, Miguel Baquero

  • 1Neuropaediatric Unit, Hospital Sant Joan de Déu, Barcelona, Spain. agarcia@hsjdbcn.org

Developmental Medicine and Child Neurology
|March 5, 2004
PubMed
Summary

White matter alterations are common in children with chromosomal abnormalities, even in rare sex chromosomal disorders. These brain MRI findings suggest unknown factors affecting myelination across various genetic conditions.

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Area of Science:

  • Neuroimaging
  • Genetics
  • Developmental Pediatrics

Background:

  • White matter alterations are documented in specific chromosomal disorders like 18q-syndrome.
  • The prevalence and patterns of white matter changes in a broader range of chromosomal abnormalities require further investigation.

Observation:

  • Brain MRI was performed on 14 patients (5 sex chromosomal disorders [SCD], 9 autosomal chromosomal disorders [ACD]) with diagnosed chromosomal abnormalities.
  • Eight patients (4 SCD, 4 ACD) exhibited similar abnormal white matter findings on T2 and FLAIR sequences.
  • These findings included pseudonodular, subcortical, and periventricular high signal intensities, isolated or confluent.

Findings:

  • A high prevalence (8/14 patients) of specific white matter alterations was observed in patients with various chromosomal abnormalities.

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  • These alterations, characterized by high signal intensity on T2/FLAIR, did not correlate with neurological status.
  • This is the first report of such white matter alterations in sex chromosomal disorders.

    • Implications:

    • The findings suggest that chromosomal abnormalities, beyond 18q-syndrome and including SCD, are frequently associated with white matter changes.
    • Unknown genetic factors on different chromosomes may impact myelination processes.
    • Further research is needed to elucidate the specific genetic mechanisms underlying these observed white matter alterations.