Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome
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J S Fryburg1, J P Pelegano, M J Bennett
1Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
Insights
Bannayan-Riley-Ruvalcaba syndrome (BRRS) may be linked to a lipid metabolism disorder. A patient with BRRS showed a deficiency in long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD), suggesting a potential cause for lipid myopathy.
Area of Science:
- Genetics
- Metabolic Disorders
- Neurology
Background:
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder characterized by macrocephaly, lipomas/hemangiomas, hypotonia, and developmental delay.
- The underlying cause of the lipid myopathy associated with BRRS has remained largely unknown.
- Lipid storage myopathies represent a group of neuromuscular disorders resulting from impaired lipid metabolism.
Observation:
- A case study of a pediatric patient presenting with classic BRRS features.
- The patient exhibited macrocephaly, lipomas, hypotonia, developmental delay, and lipid myopathy.
- Additionally, the patient displayed an abnormal brain MRI and disproportionate limb growth.
Findings:
- Cultured skin fibroblasts from the patient revealed a deficiency in long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD) activity.
- This deficiency indicates a defect in long-chain fatty acid oxidation.
- The patient's clinical presentation included an unusual combination of neurological and muscular findings.
Implications:
- The findings suggest a potential etiological link between L-CHAD deficiency and the lipid myopathy observed in BRRS.
- This discovery could pave the way for targeted diagnostic approaches and potential therapeutic strategies for BRRS-related myopathy.
- Further research is warranted to confirm L-CHAD deficiency as a causative factor in BRRS and its associated lipid myopathy.
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.