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

European Journal of Pediatrics volume 151, pages 121–126 (1992)Cite this article

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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Author information

Affiliations

  1. Department of Metabolism, Children's Hospital Bambino Gesù IRCCS, Rome, Italy

    E. Bertini, C. Dionisi-Vici, A. Bartuli & G. Sabetta

  2. Division of Biochemistry and Genetics, Istituto Nazionale Neurologico C. Besta, 11 via Celoria, I-20133, Milano, Italy

    B. Garavaglia, M. Rimoldi & S. DiDonato

  3. Department of Paediatrics, University of Padua, Padua, Italy

    A. B. Burlina

  4. Neurologic Institute, Catholic University and UILDM Sezione Laziale, Rome, Italy

    M. Sabatelli

Authors
  1. E. Bertini
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  2. C. Dionisi-Vici
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  3. B. Garavaglia
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  4. A. B. Burlina
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  5. M. Sabatelli
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  6. M. Rimoldi
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  7. A. Bartuli
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  8. G. Sabetta
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  9. S. DiDonato
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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

Key words

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