MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome.
2002; American Society of Neuroradiology; Volume: 23; Issue: 8 Linguagem: Inglês
ISSN
1936-959X
AutoresKatharina Flemming, S. Ulmer, Barbara Duisberg, Andreas Hahn, Olav Jansen,
Tópico(s)Metabolism and Genetic Disorders
ResumoAlpers-Huttenlocher syndrome, considered a mitochondrial disease, combines encephalopathy and liver failure. An 11-year-old boy with Alpers-Huttenlocher syndrome underwent conventional MR imaging, diffusion-weighted imaging, and proton MR spectroscopy. Diffusion-weighted imaging showed cytotoxic edema interpreted as acute-phase encephalopathy. MR spectroscopy revealed a lactate peak in the cortex that appeared abnormal on diffusion-weighted images, possibly representing respiratory deficiency with anaerobic metabolism. MR spectroscopy proved to be more sensitive regarding lactate detection than did neurometabolic examination of serum and CSF. A reduced N-acetylaspartate-creatine ratio was detected in both the cortex that appeared abnormal and the cortex that appeared normal on the diffusion-weighted images, indicating neuronal damage that was widespread, even beyond the boundaries of conventional MR imaging changes.
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