MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome.

Abstract

Alpers-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.

• Authors: Katharina Flemming, Stefan Ulmer, Barbara Duisberg, Andreas Hahn, Olav Jansen
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) Vol. 23 Issue 8 Pg. 1421-3 (Sep 2002) ISSN: 0195-6108 [Print] United States
• PMID: 12223390 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aspartic Acid
• Lactic Acid
• N-acetylaspartate
• Creatine

Topics

• Aspartic Acid (analogs & derivatives, metabolism)
• Brain (metabolism)
• Child
• Creatine (metabolism)
• Diffuse Cerebral Sclerosis of Schilder (diagnosis, metabolism)
• Humans
• Lactic Acid (metabolism)
• Magnetic Resonance Spectroscopy
• Male