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[Adrenoleukodystrophy: single voxel MR spectroscopy findings (case report)]
Alpay Alkan1, Ramazan Kutlu, Mehmet Aslan
1Inönü Universitesi Tip Fakültesi, Turgut Ozal Tip Merkezi, Radyodiagnostik Anabilim Dali, Malatya, Turkey.
Tanisal Ve Girisimsel Radyoloji : Tibbi Goruntuleme Ve Girisimsel Radyoloji Dernegi Yayin Organi
|October 8, 2004
Summary
Adrenoleukodystrophy, a rare genetic disorder, involves white matter damage. MR spectroscopy revealed characteristic metabolic changes in a child, indicating neuroaxonal loss, demyelination, and gliosis.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Adrenoleukodystrophy (ALD) is a rare genetic disorder characterized by demyelination and axonal loss in the central nervous system.
- Early detection and understanding of ALD's histopathological features are crucial for patient management.
Observation:
- A six-year-old boy presented with clinical and radiological findings suggestive of ALD.
- Magnetic Resonance (MR) spectroscopy was utilized to assess white matter biochemistry.
Findings:
- Significantly decreased N-acetyl-aspartate (NAA)/Creatine (Cr) ratios were observed in the parieto-occipital white matter.
- Elevated Choline (Cho)/Cr and Myo-inositol (MI)/Cr ratios were detected in both parieto-occipital and frontal white matter.
- These spectroscopic changes suggest neuroaxonal loss, demyelination, and gliosis, even in areas with normal MR imaging appearance.
Implications:
- MR spectroscopy provides valuable insights into the biochemical alterations associated with ALD.
- These findings highlight the utility of MR spectroscopy in detecting and characterizing white matter changes in ALD.
- Understanding these metabolic shifts can aid in monitoring disease progression and evaluating therapeutic interventions.