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Galactosemia: evaluation with MR imaging.

M D Nelson1, J A Wolff, C A Cross

  • 1Department of Radiology, Children's Hospital Los Angeles, CA 90027.

Radiology
|July 11, 1992
PubMed
Summary
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Magnetic resonance imaging reveals brain abnormalities in transferase-deficient galactosemia patients. Abnormal white matter signal intensity suggests impaired myelin formation due to galactocerebroside deficiency.

Area of Science:

  • Neurology
  • Biochemistry
  • Medical Imaging

Background:

  • Galactosemia is a genetic disorder affecting galactose metabolism.
  • Transferase-deficient galactosemia (GALT deficiency) is the most common form.
  • Cerebral complications are known but detailed MRI findings require further characterization.

Purpose of the Study:

  • To report cerebral magnetic resonance imaging (MRI) findings in a cohort of transferase-deficient galactosemia patients.
  • To correlate MRI findings with disease severity and age.
  • To investigate the underlying pathomechanisms of observed white matter abnormalities.

Main Methods:

  • Retrospective analysis of MRI scans from 67 patients with transferase-deficient galactosemia.
  • Evaluation of cerebral and cerebellar atrophy, and white matter hyperintensities on T2-weighted and intermediate-weighted images.

Related Experiment Videos

  • Comparison of signal intensity patterns in classic galactosemic patients versus age-matched controls.

    • Main Results:

    • Cerebral atrophy was observed in 22 patients, cerebellar atrophy in 8, and white matter hyperintensities in 11.
    • Classic galactosemic patients older than 1 year showed abnormal peripheral white matter signal intensity.
    • This abnormal signal intensity did not demonstrate the typical age-related decrease seen in healthy individuals.

    Conclusions:

    • Transferase-deficient galactosemia is associated with significant cerebral abnormalities on MRI, including atrophy and white matter changes.
    • Altered myelin formation, potentially due to insufficient galactocerebroside synthesis, is postulated as the cause of abnormal white matter signal.
    • MRI findings highlight the neurobiological impact of GALT deficiency and underscore the importance of early diagnosis and management.