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

• Published in: European journal of pediatrics Vol. 151; no. 2; pp. 121 - 126
• Main Authors: BERTINI, E, DIONISI-VICI, C, GARAVAGLIA, B, BURLINA, A. B, SABATELLI, M, RIMOLDI, M, BARTULI, A, SABETTA, G, DIDONATO, S
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-02-1992; Berlin
• Subjects: 3-Hydroxyacyl CoA Dehydrogenases - deficiency; Acyl-CoA Dehydrogenase, Long-Chain; Biochemical Phenomena; Biochemistry; Biological and medical sciences; Biopsy; Cardiomyopathy, Hypertrophic - complications; Errors of metabolism; Fatty Acid Desaturases - deficiency; Female; Fibroblasts - enzymology; Heart Failure - etiology; Hereditary Sensory and Motor Neuropathy - complications; Hereditary Sensory and Motor Neuropathy - diagnosis; Hereditary Sensory and Motor Neuropathy - pathology; Humans; Infant; Lipids (lysosomal enzyme disorders, storage diseases); Medical sciences; Metabolic diseases; Retinitis Pigmentosa - complications; Sural Nerve - pathology; Human; Reye syndrome; Nervous system diseases; Retinopathy; Cardiomyopathy; Deficiency; Sex; Cardiovascular disease; Metabolic diseases; Lipids; Infant; Neuropathy; Fatty acids; Enzymopathy; Case study; Eye disease; Heart disease; Complication; Female; Peripheral nerve disease
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/BF01958956

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 beta-oxidation.