Brem H, Beaver B L, Colombani P M, Zinreich J, Scherer L R, Carson B S, Haller J A
Division of Pediatric Surgery, Johns Hopkins Hospital, Baltimore, MD.
J Pediatr Surg. 1989 Oct;24(10):1076-8. doi: 10.1016/s0022-3468(89)80220-9.
The simultaneous presentation of clinically symptomatic anal anomalies and roentgenographically demonstrated sacral dysgenesis should alert the pediatric surgeon to investigate for the presence of a presacral malformation. We report on such a case to illustrate a new radiographic technique that facilitates diagnosis and management of complex congenital malformations. A 1-day-old white boy presented with anal stenosis, a scimitar-shaped sacrum, and large anterior and posterior meningoceles. In addition, a distinct presacral tumor--a teratoma--was identified. These malformations were identified utilizing metrizamide myelography and three-dimensional reconstruction computed tomography (CT) scanning. The meningoceles and a tethered cord were successfully corrected utilizing a posterior approach. A diverting colostomy was performed and subsequently taken down. Two years postoperatively, the patient continues to do well. This case demonstrates that this triad of anomalies (presacral mass, sacral dysgenesis, and anorectal malformation), once considered, can be safely detected with modern radiologic techniques and can be expeditiously corrected during infancy before further deterioration occurs.
临床上有症状的肛门畸形与X线片显示的骶骨发育不全同时出现，应提醒小儿外科医生检查是否存在骶前畸形。我们报告这样一例病例，以说明一种有助于复杂先天性畸形诊断和处理的新的放射学技术。一名1日龄白人男婴，表现为肛门狭窄、弯刀状骶骨以及巨大的前后部脊膜膨出。此外，还发现了一个明显的骶前肿瘤——畸胎瘤。这些畸形通过甲泛葡胺脊髓造影和三维重建计算机断层扫描（CT）得以明确。采用后路手术成功矫正了脊膜膨出和脊髓栓系。实施了转流性结肠造口术，随后将其关闭。术后两年，患者情况良好。该病例表明，一旦考虑到这种三联征畸形（骶前肿物、骶骨发育不全和肛门直肠畸形），使用现代放射学技术可安全地检测到，并且在婴儿期可在病情进一步恶化之前迅速进行矫正。
