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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
Abstract:
Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.
Insights
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.