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Infantile Refsum disease: serial evaluation with MRI.

Sinan Cakirer1, Mahmut R Savas

  • 1Neuroradiology Section, Department of Radiology, Sisli Etfal Hospital, Istanbul, Turkey. scakirer@yahoo.com

Pediatric Radiology
|October 14, 2004
PubMed
Summary

Infantile Refsum disease, a rare metabolic disorder, involves phytanic acid buildup. Characteristic MRI findings include symmetrical signal changes in specific brain areas, as seen in a child with this condition.

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Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatric Radiology

Background:

  • Refsum disease is a rare inherited metabolic disorder.
  • Characterized by phytanic acid accumulation in blood and tissues.
  • Infantile Refsum disease is a severe variant affecting young children.

Observation:

  • This report details serial MRI findings in a pediatric patient.
  • The patient presented with symptoms indicative of infantile Refsum disease.
  • MRI revealed characteristic symmetrical signal abnormalities.

Findings:

  • Specific MRI findings included signal changes in corticospinal tracts.
  • Cerebellar dentate nuclei and corpus callosum also showed signal alterations.
  • These findings are consistent with phytanic acid accumulation in the brain.

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Implications:

  • Serial MRI is crucial for monitoring disease progression in infantile Refsum disease.
  • Understanding these characteristic MRI patterns aids in early diagnosis.
  • This case highlights the importance of neuroimaging in rare metabolic disorders.