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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
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.
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.
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.