LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE (L-CHAD) DEFICIENCYIN A PATIENT WITH THE BANNAYAN-RILEY-RUVALCABA-SYNDROME

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant cond ition of macrocephaly in combination with lipomas/hemangiomas, hypoton ia, developmental delay, and a lipid myopathy. The etiology of the lip id storage myopathy has been unclear. We describe a black boy with fin dings 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 br ain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-C HAD deficiency may be the cause of the lipid myopathy in BRRS. (C) 199 4 Wiley-Liss, Inc.