Fryburg J S, Pelegano J P, Bennett M J, Bebin E M
Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
Am J Med Genet. 1994 Aug 1;52(1):97-102. doi: 10.1002/ajmg.1320520119.
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.
班纳扬-莱利-鲁瓦尔卡瓦综合征（BRRS）是一种常染色体显性疾病，其特征为巨头畸形，并伴有脂肪瘤/血管瘤、肌张力减退、发育迟缓以及脂质肌病。脂质贮积性肌病的病因一直不明。我们描述了一名患有BRRS的黑人男孩，其在培养的皮肤成纤维细胞中表现出长链脂肪酸氧化缺陷，即长链-L-3-羟酰基辅酶A脱氢酶（L-CHAD）缺乏。他的脑部磁共振成像（MRI）也异常，且双下肢增大。我们报告这个孩子是因为其不同寻常的综合表现，并推测L-CHAD缺乏可能是BRRS中脂质肌病的病因。
