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Infantile refsum disease: case report
Vaishali Choksi1, Ellen Hoeffner, Ercan Karaarslan
1Department of Neuroradiology, University of Michigan Health System, Ann Arbor, USA. vrchoksi@med.unmich.edu
AJNR. American Journal of Neuroradiology
|November 20, 2003
Summary
Infantile Refsum disease, a rare metabolic disorder, involves phytanic acid buildup. This report details MR imaging findings in two neonates, tracking disease progression over time.
Area of Science:
- Biochemistry
- Genetics
- Radiology
Background:
- Infantile Refsum disease (IRD) is a rare autosomal recessive metabolic disorder.
- It stems from impaired phytanic acid metabolism, with phytanic acid exclusively sourced from diet.
- IRD often manifests symptoms in the neonatal period.
Observation:
- This study presents MR imaging findings in two IRD cases.
- The imaging documented progressive changes over time due to disease advancement.
- Initial diagnosis relied on clinical history, examination, and biochemical data.
Findings:
- MR imaging revealed characteristic changes associated with infantile Refsum disease.
- Longitudinal imaging demonstrated disease progression and its impact on brain structure.
- Correlating imaging findings with clinical and biochemical data aids diagnosis.
Implications:
- Understanding MR imaging patterns in IRD is crucial for early diagnosis and management.
- This case series highlights the utility of serial imaging in assessing disease course.
- Further research into IRD pathogenesis and therapeutic strategies is warranted.