MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect
| Autor: | T L Chi, D C DeVivo, L Medina, S K Hilal |
|---|---|
| Rok vydání: | 1990 |
| Předmět: |
Pathology
medicine.medical_specialty Cytochrome-c Oxidase Deficiency Congenital lactic acidosis Basal ganglia Journal Article medicine Humans Cytochrome c oxidase Radiology Nuclear Medicine and imaging In patient Child Pyruvate Dehydrogenase Complex Deficiency Disease Cultured skin biology Brain Diseases Metabolic business.industry Putamen Brain Infant General Medicine Fibroblasts Pyruvate dehydrogenase complex medicine.disease Magnetic Resonance Imaging nervous system Child Preschool Lactic acidosis biology.protein Acidosis Lactic Leigh Disease business Mitochondrial Enzyme Deficiency |
| Zdroj: | AJNR Am J Neuroradiol |
| ISSN: | 1546-3141 0361-803X |
| Popis: | MR studies were correlated with biochemical results in nine children who presented with lactic acidosis and/or abnormal MR findings in the basal ganglia. Neurologic development was delayed in all nine children. Seven of these patients were diagnosed as having subacute necrotizing encephalomyelopathy (SNE, or Leigh syndrome) on the basis of history, clinical findings, and biochemical studies; of the remaining two, one had congenital lactic acidosis and the other had familial bilateral striatal necrosis with no known biochemical correlate. Although the clinical presentation of these patients was similar, we found distinctive MR abnormalities in characteristic locations in the seven patients with SNE, with or without detectable specific mitochondrial enzyme deficiency in cultured skin fibroblast assays. In our case studies of SNE patients with detectable enzyme deficiency states, defects in pyruvate dehydrogenase complex and cytochrome c oxidase have been found. The MR finding of note in SNE is the remarkably symmetrical involvement, most frequently of the putamen. In our study, lesions were also commonly found in the globus pallidus and the caudate nucleus, but never in the absence of putaminal abnormalities. Other areas of involvement included the paraventricular white matter, corpus callosum, substantia nigra, decussation of superior cerebellar peduncles, periaqueductal region, and brainstem. In patients who present with lactic acidosis and whose MR findings show symmetrical abnormalities in the brain, but with sparing of the putamen, the diagnosis of SNE is in doubt. |
| Databáze: | OpenAIRE |
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