Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.

Academic Article

Abstract

  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.
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    Keywords

  • 3-Hydroxyacyl CoA Dehydrogenases, Abnormalities, Multiple, Hemangioma, Humans, Infant, Lipoma, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase, Magnetic Resonance Imaging, Male, Microscopy, Electron, Muscles, Muscular Diseases, Soft Tissue Neoplasms, Syndrome
  • Digital Object Identifier (doi)

    Author List

  • Fryburg JS; Pelegano JP; Bennett MJ; Bebin EM
  • Start Page

  • 97
  • End Page

  • 102
  • Volume

  • 52
  • Issue

  • 1