Urioste Miguel, Garcia-Andrade M del Carmen, Valle Laura, Robledo Mercedes, González-Palacios Fernando, Méndez Ramiro, Ferreirós Joaquin, Nuño Javier, Benítez Javier
Department of Human Genetics, Centro Nacional de Investigaciones Oncológicas, Madrid, Spain.
Am J Med Genet A. 2004 Jul 30;128A(3):299-304. doi: 10.1002/ajmg.a.30028.
The autosomal dominant Currarino anomaly (CA) comprises a presacral mass, partial sacral agenesis, and anorectal defects. Chronic constipation in childhood related to anorectal defects is the most common presenting symptom and hemisacrum the most frequent malformation. The presacral mass may be an anterior meningomyelocele, teratoma, hamartoma, dermoid cyst, neuroenteric cyst, or a combination of these. Sepsis and meningitis are frequent serious problems related to the anterior meningomyelocele, whilst malignant transformation of presacral teratoma is a rare, severe complication in CA. Here, we report on a three-generation family segregating the CA, presenting with anorectal defects, severe constipation, and sacral involvement in affected relatives. Teratoma was the most frequent component of the presacral mass. In this kindred a 22-year-old man died of a neuroendocrine tumor, probably related to malignant change in a presacral teratoma. A novel mutation in HLXB9 consisting of a 24-bp deletion and insertion of 2-bp into exon 1, was identified in all patients and in also three asymptomatic members of this family. Anterior meningomyelocele is the most frequently reported component of the presacral masses in CA; however, presacral teratomas carry an inherent risk for malignancy that must be considered in the counseling, surgical treatment options, and follow-up of CA patients.
常染色体显性遗传的库拉里诺异常（CA）包括骶前肿块、部分骶骨发育不全和肛门直肠缺陷。儿童期与肛门直肠缺陷相关的慢性便秘是最常见的首发症状，半骶骨是最常见的畸形。骶前肿块可能是前侧脊髓脊膜膨出、畸胎瘤、错构瘤、皮样囊肿、神经肠囊肿或这些情况的组合。脓毒症和脑膜炎是与前侧脊髓脊膜膨出相关的常见严重问题，而骶前畸胎瘤的恶性转化是CA中一种罕见的严重并发症。在此，我们报告一个三代家族，其中存在CA的分离现象，患病亲属表现为肛门直肠缺陷、严重便秘和骶骨受累。畸胎瘤是骶前肿块最常见的组成部分。在这个家族中，一名22岁男性死于神经内分泌肿瘤，可能与骶前畸胎瘤的恶性变化有关。在所有患者以及该家族的三名无症状成员中，均鉴定出HLXB9基因的一个新突变，该突变由外显子1中的24个碱基对缺失和2个碱基对插入组成。前侧脊髓脊膜膨出是CA中骶前肿块最常报道的组成部分；然而，骶前畸胎瘤存在恶性的内在风险，在对CA患者进行咨询、手术治疗选择和随访时必须予以考虑。
