Division of Urology, University of Maryland Medical Center, USA.
J Urol. 2010 Oct;184(4 Suppl):1651-5. doi: 10.1016/j.juro.2010.03.085. Epub 2010 Aug 21.
The omphalocele-exstrophy-imperforate anus-spinal defects complex is a severe multisystem congenital defect. To comprehensively care for these patients one must appreciate the neurological and orthopedic impact on the overall health of the child.
We retrospectively reviewed the medical records of 73 children with omphalocele-exstrophy-imperforate anus-spinal defects who were treated at our institution, identifying neurological and orthopedic anomalies, ambulatory ability and voiding status.
No neurological data were available on 5 patients. Of the remaining 68 patients 9 had no spinal anomaly, 57 had spina bifida, 1 had hemivertebrae and 1 had coccygeal hypoplasia. We further classified the 47 spina bifida cases as spina bifida occulta in 6, meningocele/lipomeningocele in 12, myelomeningocele/lipomyelomeningocele in 24 and sacral agenesis in 6. Of the patients with spina bifida 35 had cord tethering. Commonly identified orthopedic anomalies were vertebral malformation in 59 patients, scoliosis in 25, clubfoot in 14 and limb length discrepancy in 8. Ambulatory status in 62 patients of walking age revealed that 37 ambulated fully, 15 ambulated with devices, 2 ambulated minimally with devices and 8 were wheelchair bound. Continence data were available on 61 closed cases. Of these patients 26 were incontinent, including 3 with conduit diversion, 1 with ureterostomy and 1 with vesicostomy. A total of 35 patients were socially continent, of whom 30 catheterized via a continent abdominal stoma and 5 voided/catheterized via the urethra.
Early evaluation for neurosurgical and orthopedic anomalies is vital in these children. Despite the high incidence of spinal pathology most patients ambulate without assistance. Few children with omphalocele-exstrophy-imperforate anus-spinal defects achieve continence via the urethra. Vigilant followup is necessary to identify potentially correctable conditions.
脐膨出-膀胱外翻-肛门直肠闭锁-脊柱缺陷复合畸形是一种严重的多系统先天性缺陷。为了全面照顾这些患者，必须了解神经系统和骨科对儿童整体健康的影响。
我们回顾性分析了在我院治疗的 73 例脐膨出-膀胱外翻-肛门直肠闭锁-脊柱缺陷患儿的病历资料，确定了神经系统和骨科异常、活动能力和排尿状况。
5 例患儿无神经系统资料。在其余 68 例患儿中，9 例无脊柱异常，57 例有脊柱裂，1 例有半椎体，1 例有尾骨发育不全。我们进一步将 47 例脊柱裂病例分为 6 例隐性脊柱裂、12 例脑膜膨出/脑脊膜膨出、24 例脊髓脊膜膨出/脑脊膜脊髓膨出和 6 例骶骨发育不全。在有脊柱裂的患儿中，35 例有脊髓栓系。常见的骨科畸形有 59 例椎体畸形，25 例脊柱侧凸，14 例马蹄足，8 例肢体不等长。62 例有行走能力的患儿的行走状态显示，37 例完全行走，15 例借助器械行走，2 例借助器械轻微行走，8 例坐轮椅。61 例闭合病例有控便资料。这些患儿中有 26 例失禁，其中 3 例采用了导尿改道，1 例采用了输尿管造口术，1 例采用了膀胱造口术。共有 35 例患儿有社交控便能力，其中 30 例通过经腹可控性肠造口术导尿，5 例通过尿道排尿/导尿。尽管脊柱病变发生率很高，但大多数患儿无需辅助即可行走。很少有脐膨出-膀胱外翻-肛门直肠闭锁-脊柱缺陷患儿通过尿道获得控便。需要进行严密的随访，以识别可能可纠正的情况。
