Kuo Meng-Fai, Tsai Yihsin, Hsu Wen-Ming, Chen Ruei-Sheng, Tu Yong-Kwang, Wang Huei-Shyong
Division of Neurosurgery, Department of Surgery, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei.
J Neurosurg. 2007 Mar;106(3 Suppl):201-4. doi: 10.3171/ped.2007.106.3.201.
Vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistulas (TEFs), renal anomalies, and limb defects (most often of the radius) are commonly associated and known collectively by the acronym VACTERL. The authors studied these nonrandomly associated birth defects to determine if a further relationship exists between VACTERL association and the presence of a tethered spinal cord (TSC).
From 2001 to 2004, 12 patients with VACTERL association who were treated operatively by a single pediatric surgeon underwent magnetic resonance (MR) imaging to evaluate the intraspinal abnormalities that may cause tethering. Three patients were excluded from the study due to complications after surgery for TEF. Coincidentally, these three patients did not have imperforate ani. In the remaining nine patients, seven had associated urogenital anomalies, and six of these also had high-type imperforate ani. Five of the six patients and the one patient with low-type imperforate anus and a urogenital anomaly were found to have TSCs. In the remaining two patients without urogenital anomalies there was a high-type imperforate anus without a TSC in one patient and a low-type imperforate anus with a TSC in the other. All seven patients with TSCs underwent successful untethering. The lesions contributing to TSC included terminal filum lipomas (TFLs) in five patients, an intramedullary ependymal cyst in one patient, and a lipo-meningomyelocele in another patient.
The authors found that in patients with VACTERL association there was a high incidence of TSC (seven of nine patients) if an imperforate anus was present as one of the anomalies. In patients with VACTERL association and urogenital anomalies, the incidence of TSC was even higher (86%). Five of the seven cases of TSC in the present study were caused by a TFL, a lesion that can be easily and safely managed surgically. The authors conclude that MR imaging is essential for ruling out the possibility of a TSC in patients with VACTERL association combined with urogenital anomalies or an imperforate anus.
椎体缺陷、肛门闭锁、心血管异常、气管食管瘘（TEF）、肾脏异常和肢体缺陷（最常见于桡骨）通常同时出现，并用首字母缩略词VACTERL统称。作者研究了这些非随机关联的出生缺陷，以确定VACTERL综合征与脊髓栓系（TSC）之间是否存在进一步的关联。
2001年至2004年，12例患有VACTERL综合征且由同一位小儿外科医生进行手术治疗的患者接受了磁共振（MR）成像，以评估可能导致栓系的椎管内异常情况。由于TEF手术后出现并发症，3例患者被排除在研究之外。巧合的是，这3例患者均无肛门闭锁。在其余9例患者中，7例伴有泌尿生殖系统异常，其中6例还患有高位肛门闭锁。6例患者中的5例以及1例患有低位肛门闭锁和泌尿生殖系统异常的患者被发现存在TSC。在其余2例无泌尿生殖系统异常的患者中，1例为高位肛门闭锁且无TSC，另1例为低位肛门闭锁且有TSC。所有7例患有TSC的患者均成功进行了栓系松解术。导致TSC的病变包括5例患者的终丝脂肪瘤（TFL）、1例患者的髓内室管膜囊肿和另1例患者的脂肪脊髓脊膜膨出。
作者发现，在患有VACTERL综合征的患者中，如果肛门闭锁是其中一种异常情况，则TSC的发生率很高（9例患者中有7例）。在患有VACTERL综合征和泌尿生殖系统异常的患者中，TSC的发生率更高（86%）。本研究中7例TSC病例中有5例是由TFL引起的，这种病变可以通过手术轻松安全地处理。作者得出结论，对于患有VACTERL综合征合并泌尿生殖系统异常或肛门闭锁的患者，MR成像对于排除TSC的可能性至关重要。
