Solomon Benjamin D, Patel Ankita, Cheung Sau Wai, Pineda-Alvarez Daniel E
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@ mail.nih.gov
Birth Defects Res A Clin Mol Teratol. 2011 Mar;91(3):192-4. doi: 10.1002/bdra.20768. Epub 2011 Feb 9.
VACTERL association includes the presence of malformations affecting the vertebrae, anus, heart, trachea and esophagus, kidneys, and limbs. The causes remain largely unknown, but rare patients with mitochondrial dysfunction have been reported. Although clinical signs and symptoms consistent with possible mitochondrial disease are not uncommon in patients with VACTERL association, the necessary testing to confirm mitochondrial dysfunction is infrequently performed.
We describe a patient with relatively classic signs of VACTERL association who had an onset of clinical signs of mitochondrial dysfunction at 13 months of age. These signs included progressive muscle weakness, autonomic dysregulation, episodic hypoglycemia, and exocrine pancreatic dysfunction. The patient was later shown to have evidence of mitochondrial dysfunction (cytochrome c oxidase deficiency).
Abnormal mitochondrial function may be associated with VACTERL association, and clinicians who encounter patients with VACTERL association should have a low threshold for considering mitochondrial dysfunction.
VACTERL综合征包括影响脊椎、肛门、心脏、气管和食管、肾脏及四肢的多种畸形。其病因大多不明，但已有罕见的线粒体功能障碍患者的报道。尽管在VACTERL综合征患者中，与可能的线粒体疾病相符的临床体征和症状并不少见，但用于确诊线粒体功能障碍的必要检测却很少进行。
我们描述了一名具有相对典型VACTERL综合征体征的患者，该患者在13个月大时出现线粒体功能障碍的临床体征。这些体征包括进行性肌无力、自主神经调节异常、发作性低血糖和外分泌胰腺功能障碍。该患者后来被证实存在线粒体功能障碍的证据（细胞色素c氧化酶缺乏）。
线粒体功能异常可能与VACTERL综合征有关，遇到VACTERL综合征患者的临床医生应降低对线粒体功能障碍的诊断阈值。
