Occult tight filum terminale syndrome: results of surgical untethering

The entity of an occult tight filum terminale syndrome, characterized by clinical findings consistent with a tethered cord syndrome, but with the conus ending in a normal position, has been recognized recently. The indications for sectioning the filum terminale in this situation are not well characterized and are controversial. We report a retrospective review of a consecutive series of 60 children (ages 3-18 years) with a diagnosis of occult tight filum terminale syndrome who underwent section of the filum and were followed for more than 6 months (mean 13.9 months). The criteria for surgical intervention were (1) spina bifida occulta, (2) progressive bladder instability unresponsive to conservative measures, (3) urological/nephrological evaluation to confirm or rule out nonneurogenic etiology, and (4) two or more of the following: (a) bowel involvement (fecal incontinence or chronic constipation), (b) lower extremity weakness, (c) gait changes, (d) reflex/tone abnormalities, (e) sensory disturbances, (f) back/leg pain, (g) orthopedic abnormalities/limb length discrepancy, (h) scoliosis/lordosis, (i) recurrent urinary tract infections, (j) abnormal voiding cystourethrogram/ultrasound, (k) syringomyelia, and (l) neurocutaneous stigmata. Postoperatively, urinary incontinence/retention showed complete resolution in 52%, marked improvement (>95% resolution) in 35%, moderate improvement (>75%) in 6%, minimal improvement (> 50%) in 6%, and no improvement (<50%) in 2%. Fecal incontinence completely resolved in 56%, improved in 41%, and was unchanged in 3%. Weakness, sensory abnormalities, and pain improved or resolved in all patients.     

儿童终丝粗大型脊髓栓系综合征

脊髓栓系综合征(tethered cord syndrome,TCS)是由于各种先天或后天原因牵拉圆锥,使圆锥位置下降并产生一系列神经功能障碍和畸形的症候群.临床少见,一般多见于儿童,易被误诊.TCS中最常见的类型是终丝粗大型,表现为终丝短而粗大,横径超过2 mm,致使圆锥位于L3水平以下.现将我院收治的5例由手术及病理学检查确诊的终丝粗大型TCS患儿的临床资料报告如下.     

The immunohistochemical profile of the tethered filum terminale

The embryopathy underlying tethering of the filum terminale is poorly understood. Knowledge of normal filum development is the foundation upon which to compare normal fila to fila from patients with tethered cord syndrome. Thirty-four fila from patients with tethered cord syndrome were immunostained with caudal neural tube developmental markers H4C4 (CD44), VIN-IS-53, AC4, FP3 and NOT1, and a panel of mature neuroglial, neural crest, epithelial and mesenchymal markers. H4C4 (CD44) and NOT1 exhibited significant alterations in immunoexpression in tethered fila compared to controls. The change in expression may be indicative of altered cell identity in the filum and constitute the predisposition to tethering.     

Clinical characteristics and surgical outcome in 25 cases of childhood tight filum syndrome

ObjectiveTight filum syndrome (TFS) is caused by a thick (abnormal T1 MRI), shortened (low-lying conus), or non-elastic filum (strictly normal MRI). We carefully analyzed children treated for suspect TFS with or without radiological abnormalities.MethodsTwenty-five children, operated between 2002 and 2009, were retrospectively identified. All children had been evaluated by a multidisciplinary team preoperatively. Symptoms, signs and diagnostic test results were categorized (neurologic, urologic, orthopedic, dermatologic) and compared pre- and one year postoperatively. Normal MR was defined as conus medullaris (CM) at or above mid-body L2 and filum diameter less than 2 mm. Occult TFS (OTFS) was defined as TFS with normal MR.ResultsDemographics: 17 girls, 8 boys, age 2–18 years, including 11 syndromal children. Clinical presentation: all children had problems in the neurologic category and at least one other category: urologic (n = 17), orthopedic (n = 21), and dermatologic (n = 11). MR findings: low-lying CM (n = 14) including 2 with thick filum, normal CM but fatty filum (n = 2), strictly normal (n = 9). Clinical outcome one year postoperatively: neurologic 20 improved, 5 stabilized; urologic 13 improved, 3 stabilized, 1 worsened; orthopedic (8 children presenting with scoliosis) 3 improved, 4 stabilized, 1 worsened. All children with OTFS (n = 9) improved in at least one and 8 improved in all affected categories.ConclusionsChildren with strong clinical suspicion for TFS (≥2 affected categories) with or without abnormal MR findings will likely benefit from surgery. In such cases we suggest a detailed full spine MR, a multidisciplinary diagnostic work-up, and eventual untethering through an interlaminar microsurgical approach.     

光学相干显微成像技术在终丝紧张综合征诊断中的应用研究

目的 探讨光学相干显微成像(optical coherence microscopy,OCM)技术在终丝紧张综合征(tight filum terminale syndrome,TFTS)患儿诊断中应用的可行性.方法 筛选15例于我院诊断为TFTS并行终丝离断术的患儿,终丝标本经大体观察及测量后即行OCM扫描,并与常规组织学检查结果进行比对.同时留取5例引产的非脊髓神经系统疾病的胎儿终丝行上述检查,并对比分析病变终丝与正常胎儿终丝的检查结果.结果 与正常胎儿终丝相比,病变终丝纤维组织增生明显并伴有纤维素样变性、弹性降低,脂肪组织浸润,毛细血管数量增多.OCM扫描可直接显示终丝内纤维、血管及脂肪等成分,正常胎儿终丝纤维组织排列疏松,未见脂肪组织;病变终丝纤维组织致密、紊乱,脂肪成分增多.结论 OCM扫描可无损、快速、清晰显示离体终丝组织内部结构,不同组织间易于区分,与同节段的终丝组织学检查有较高契合度,为OCM在体诊断终丝的异常改变、早期明确诊断TFTS提供依据,弥补现有检查的不足.