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双胞胎中表现为新生儿肠梗阻的库拉里诺综合征——非同卵双胞胎的相同表现

Currarino's syndrome in twins presenting as neonatal intestinal obstruction--identical presentation in non-identical twins.

作者信息

Patel Ramnik V, De Coppi Paolo, Kiely Edward, Pierro Agostino

机构信息

Department of Paediatric Urology, University College London Hospitals NHS Foundation Trust, London, UK Department of Paediatric Urology, Great Ormond Street Children Hospital NHS Trust, London, UK.

Neonatal and Paediatric Surgery, ICH and Great Ormond Street Hospital, London, UK.

出版信息

BMJ Case Rep. 2014 Sep 8;2014:bcr2014204276. doi: 10.1136/bcr-2014-204276.

Abstract

We report a case of non-identical twins who presented with identical neonatal intestinal obstruction with features of anorectal stenosis, presacral mass and sacral anomaly consistent with Currarino's syndrome or triad. Plain sacral radiograph, contrast enema and MRI were diagnostic. Initial management involved a defunctioning colostomy followed by a posterior sagittal anorectoplasty with excision of the teratoma ± anterior sacral meningocele and finally closure of colostomy in a staged multidisciplinary approach. The twins' father is also affected with features of Currarino's syndrome but was diagnosed during family screening. Currarino's syndrome presenting with identical neonatal low intestinal obstruction in a non-identical set of twins is rare and interesting. Antenatal diagnosis of Currarino's syndrome is difficult and may prove to be a challenge even in the postnatal period. Sacral spine radiograph, contrast enema and MRI are diagnostic. Management requires high index of suspicion, low threshold for MRI and multidisciplinary staged approach.

摘要

我们报告了一例非同卵双胞胎病例,他们均表现为相同的新生儿肠梗阻,伴有肛门直肠狭窄、骶前肿块和骶骨异常,符合库拉里诺综合征或三联征的特征。骶部平片、钡剂灌肠造影和磁共振成像(MRI)具有诊断价值。初始治疗包括行造瘘性结肠造口术,随后采用后矢状位肛门直肠成形术,切除畸胎瘤±骶前脑脊膜膨出,最后分阶段采用多学科方法关闭结肠造口。这对双胞胎的父亲也患有库拉里诺综合征的特征,但在家族筛查中被诊断出来。非同卵双胞胎出现相同的新生儿低位肠梗阻的库拉里诺综合征病例罕见且有趣。库拉里诺综合征的产前诊断困难,即使在产后阶段也可能是一项挑战。骶椎X线片、钡剂灌肠造影和MRI具有诊断价值。治疗需要高度的怀疑指数、对MRI的低阈值和多学科分阶段方法。

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