Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

E. Bertini, C. Dionisi-Vici, B. Garavaglia, A. B. Burlina, M. Sabatelli, M. Rimoldi, A. Bartuli, G. Sabetta, S. DiDonato

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)121-126
Number of pages6
JournalEuropean Journal of Pediatrics
Volume151
Issue number2
DOIs
Publication statusPublished - Feb 1992

Keywords

  • Cardiomyopathy
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Myopathy
  • Peripheral neuropathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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