Chang Jenn-Tzong, Chiu Pao-Chin, Chen Ying-Yao, Chao Mei-Chyn, Hsieh Kai-Sheng
Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
Acta Paediatr Taiwan. 2005 Jan-Feb;46(1):35-8.
The 49, XXXXY syndrome was first reported in 1960. It represents a rare sex chromosome aneuploidy syndrome. Some consider it as the most severe variant of Klinefelter syndrome (47, XXY). The approximate incidence is 1 in 85,000 male births. The karyotype arises from maternal non-disjunction during both meiosis I and meiosis II. The clinical presentations of 49, XXXXY syndrome include mental deficiency, hypogonadism, severe speech delay, multiple skeletal anomalies, cardiac defects and characteristic facial features. It might be mistaken for Down syndrome and needs chromosome analysis for confirmation. According to literature review, urinary tract anomaly in association with 49, XXXXY syndrome was extremely rare. Here we report a case of 49, XXXXY with Down syndrome-like facial dysmorphism, who was found to have patent ductus arteriosus and hypotonia. Moreover, he also got grade V vesico-ureteral reflux, R't with hydronephrosis and urinary tract infection. We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.
49,XXXXY综合征于1960年首次报道。它是一种罕见的性染色体非整倍体综合征。一些人认为它是克兰费尔特综合征（47,XXY）最严重的变异型。其发病率约为每85000例男性出生中有1例。核型源于减数分裂I和减数分裂II期间的母体不分离。49,XXXXY综合征的临床表现包括智力缺陷、性腺功能减退、严重语言发育迟缓、多发骨骼异常、心脏缺陷和特征性面部特征。它可能被误诊为唐氏综合征，需要进行染色体分析以确诊。根据文献综述，与49,XXXXY综合征相关的泌尿系统异常极为罕见。在此，我们报告1例具有唐氏综合征样面部畸形的49,XXXXY患者，该患者被发现患有动脉导管未闭和肌张力减退。此外，他还患有V级膀胱输尿管反流、右侧肾积水和泌尿系统感染。我们希望提醒临床医生，如果新生儿存在多种先天性异常，应安排染色体分析。并且，如果诊断为核型49,XXXXY，要记得排除先天性泌尿生殖道异常。
