Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia A case report
Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia A case report
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DOI：
10.1097/md.0000000000012822
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发表时间：
2018-11-01
期刊：
影响因子：
1.6
通讯作者：
Zhu, Lan
中科院分区：
文献类型：
--
作者：
Kang, Jia;Mao, Meng;Zhu, Lan
基本原理：脊椎缺损、肛门闭锁、心脏缺损、气管食管瘘/食管闭锁、肾缺损和肢体缺损（VALNL）相关和苗勒管异常是罕见的疾病。我们提出了一种罕见的条件下，共同发生的VELCAL协会和苗勒管发育不全，以表征患者的临床表现，结果和treatment.Patient关注：一个11岁的女孩，我们的医院严重的下腹疼痛，下阴道闭锁扩大的上阴道和双角子宫Y形子宫腔充满子宫积血盆腔磁共振成像。她的病史包括先天性肛门闭锁伴直肠前庭瘘、先天性右肾功能不全、先天性右拇指畸形和脊柱侧凸。先天性生殖道畸形，部分双角子宫，远端阴道闭锁（U3（a）C 0 V4）;2.匈牙利协会（先天性肛门闭锁伴直肠前庭瘘、脊柱侧凸伴半椎体和蝶椎、单侧肾发育不全和手指缺损）。干预措施：阴道切开术、腹腔镜探查术、盆腔粘连松解术和宫腔镜检查。结果：术后两个月，盆腔检查显示阴道通畅，长10 cm，宽2指，无粘连或狭窄。课程：临床医生在评估与VEGEL相关的生殖器畸形患者时应高度怀疑。远端阴道闭锁的早期诊断和适当的手术干预可降低长期发病率。
Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association and Mullerian duct anomalies are rare conditions. We present a rare condition with the co-occurrence of the VACTERL association and Mullerian duct hypoplasia to characterize patients' clinical presentations, outcomes, and treatment.Patient concerns: An 11-year-old girl presented to our hospital with severe lower abdominal pain, lower vaginal atresia with enlargement of the upper vagina and a bicornuate uterus with a Y-shaped uterine cavity filled with hematometra on pelvic magnetic resonance imaging. Her medical history included congenital anal atresia with a rectovestibular fistula, congenital right renal deficiency, congenital right thumb malformation, and scoliosis.Diagnoses: 1. Congenital genital tract malformations, a partial bicornuate uterus, and distal vaginal atresia (U3(a)C0V4);2. VACTERL association (congenital anal atresia with rectovestibular fistula, scoliosis with hemi vertebra and butterfly vertebra, unilateral renal agenesis, and finger defect).Interventions: Colpotomy, laparoscopic exploration, pelvic adhesiolysis, and hysteroscopy were performed.Outcomes: Two months after surgery, a pelvic examination showed an unobstructed vagina which was 10 cm long and 2 fingers wide, without adhesion or constriction.Lessons: Clinicians should have a high index of suspicion when evaluating patients with genital malformations associated with VACTERL. Early diagnosis of distal vaginal atresia with appropriate surgical intervention decreases long-term morbidity.