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Related Experiment Videos

Costello syndrome and neurological abnormalities.

Marie-Ange Delrue1, Jean-François Chateil, Benoit Arveiler

  • 1Department of Medical Genetics, Pellegrin-Children's Universitary Hospital, Bordeaux, France.

American Journal of Medical Genetics. Part A
|November 11, 2003
PubMed
Summary

Costello syndrome often involves neurological issues. Early neuroimaging and EEG screening are recommended for affected children, especially with symptoms.

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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Costello syndrome is a rare genetic disorder with an unknown cause.
  • Neurological abnormalities are common in Costello syndrome, including structural and electrophysiological issues.
  • Ventricular dilatation affects over 40% of patients.

Observation:

  • Cerebral anomalies such as brain atrophy, Chiari malformation, and syringomyelia have been reported.
  • Neurological signs and symptoms warrant a low threshold for neuroimaging.
  • Screening with cerebral MRI and EEG is advisable after a Costello syndrome diagnosis.

Findings:

  • Costello syndrome frequently presents with neurological complications.
  • Neuroimaging and electrophysiological studies are crucial for diagnosis and management.

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  • Specific cerebral anomalies are prevalent in Costello syndrome patients.

    • Implications:

    • Early and regular neurological assessment is vital for Costello syndrome patients.
    • Neuroimaging and EEG screening should be standard after diagnosis.
    • Further research is needed to establish definitive guidelines for managing neurological aspects of Costello syndrome.