Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy.
| Publication Type | Case Report |
| Authors | Gottfried J, Mayer S, Shungu D, Chang Y, Duyn J |
| Journal | Neurology |
| Volume | 49 |
| Issue | 5 |
| Pagination | 1400-4 |
| Date Published | 11/01/1997 |
| ISSN | 0028-3878 |
| Keywords | Acidosis, Lactic, Cerebroside-Sulfatase, Demyelinating Diseases, Hypoxia |
| Abstract | Delayed demyelination is a rare and poorly understood complication of hypoxic brain injury. A previous case report has suggested an association with mild-to-moderate deficiency of arylsulfatase A. We describe a 36-year-old man who recovered completely from an episode of hypoxia related to drug overdose, and 2 weeks later progressed from a confusional state to deep coma. MRI showed diffuse white matter signal changes, and brain biopsy demonstrated a noninflammatory demyelinating process. Proton magnetic resonance spectroscopy revealed elevated choline and lactate and reduced N-acetyl aspartate signal in the affected white matter, consistent with demyelination and a shift to anaerobic metabolism. Arylsulfatase A activity from peripheral leukocytes was approximately 50% of normal, consistent with a "pseudodeficiency" phenotype. These findings confirm the hypothesis that relative arylsulfatase A deficiency predisposes susceptible individuals to delayed posthypoxic leukoencephalopathy and implicates lactic acidosis in the pathogenesis of this disorder. |
| DOI | 10.1212/wnl.49.5.1400 |
| PubMed ID | 9371929 |