Abstract
An 11-month-old girl presented acute episodes of hypoglycaemia and hepatic encephalopathy reminiscent of Reye syndrome and 3-hydroxydicarboxylic aciduria. The patient showed peculiar clinical manifestations of severe sensory-motor neuropathy, pigmentary retinopathy, and cardiomyopathy. She died of cardiac failure. Pathological studies of peripheral nerve showed signs of axonal neuropathy and demyelination. Enzymatic studies in cultured fibroblasts showed a deficiency of mitochondrial long-chain 3-hydroxyacyl-CoA-dehydrogenase. Peripheral nerve involvement and retinal pigmentary degeneration have as yet not been described in patients with proven defects of mitochondrial β-oxidation.
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Abbreviations
- EMG:
-
electromyography
- ETF:
-
electrontransfer flavoprotein
- HAD:
-
3-hydroxyacyl-CoA dehydrogenase
- LCHAD:
-
long chain 3-hydroxyacyl-CoA dehydrogenase
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Bertini, E., Dionisi-Vici, C., Garavaglia, B. et al. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 151, 121–126 (1992). https://doi.org/10.1007/BF01958956
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DOI: https://doi.org/10.1007/BF01958956