Hollander Seth A, Alsaleh Norah, Ruzhnikov Maura, Jensen Kristen, Rosenthal David N, Stevenson David A, Manning Melanie
Department of Pediatrics (Cardiology), Stanford University Medical Center, Stanford, California.
Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California.
Am J Med Genet A. 2017 Jun;173(6):1687-1689. doi: 10.1002/ajmg.a.38200. Epub 2017 Apr 13.
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy. Concordant findings of nystagmus, vision loss, and developmental delay were noted in both twins. Additional discordant findings included obesity and signs of insulin resistance in one twin. Genetic testing on one sibling confirmed AS. These twins underscore the importance of considering AS in any child presenting with DCM, particularly in infancy, and highlights that, even in monozygotic twins, the clinical course of AS is variable with regard to both the cardiac and non-cardiac manifestations of the disease.
阿尔斯特伦综合征（AS）是一种由ALMS1基因突变引起的罕见常染色体隐性疾病。我们报告了一对同卵双胞胎婴儿，他们因扩张型心肌病（DCM）同时出现充血性心力衰竭（CHF）症状。在初次就诊后，其中一个双胞胎的超声心动图和功能均有所改善，而另一个双胞胎的心室功能则逐渐下降，CHF症状恶化，需要多次住院并加强心力衰竭治疗。两个双胞胎均出现了眼球震颤、视力丧失和发育迟缓的一致表现。其他不一致的表现包括其中一个双胞胎肥胖和胰岛素抵抗迹象。对其中一个兄弟姐妹的基因检测确诊为AS。这些双胞胎强调了在任何患有DCM的儿童中，尤其是在婴儿期，考虑AS的重要性，并突出表明，即使是同卵双胞胎，AS的临床病程在该疾病的心脏和非心脏表现方面也是可变的。
