Han Yong, Wang Hangzhou, Huang Yulun
Department of Neurosurgery, The Fourth Affiliated Hospital of Soochow University, Suzhou, China; Department of Neurosurgery, Children's Hospital of Soochow University, Suzhou, China.
Department of Neurosurgery, Children's Hospital of Soochow University, Suzhou, China.
World Neurosurg. 2024 Nov;191:e707-e712. doi: 10.1016/j.wneu.2024.09.027. Epub 2024 Sep 11.
The link between tethered cord syndrome (TCS) and neurofibromatosis type 1 (NF1) remains unclear. To date, only 2 studies have indicated a high occurrence of TCS in the pediatric NF1 patient population. Our study aims to ascertain the incidence of TCS among Chinese pediatric patients with NF1.
A single-institution, 8-year retrospective analysis at a tertiary-level children's hospital was conducted for patients with NF1 who underwent surgery for TCS. The clinical features, imaging characteristics, genetic testing outcomes, and histopathological findings of pediatric NF1 patients with TCS were analyzed.
During the study period, a total of 115 pediatric patients were diagnosed with NF1. Among these 115 NF1 patients, 11 individuals, accounting for 9.6% of the sample, were confirmed to have TCS. This rate of occurrence is significantly higher than the incidence rate of TCS in the general population, which stands at 0.17%. All 11 of the pediatric NF1 patients underwent surgery for TCS. Out of the 11 patients who were advised to have tethered cord release surgery, 4 (36.4%) were girls, and the average age of these 11 patients was 8.6 years, with ages ranging from 2 to 17 years. The conus medullaris position of the 11 pediatric NF1 patients ranged from L1 to L2, and 10 of them (91%) had a filum terminale lipoma, characterized by high signal intensity on T1-weighted magnetic resonance images. Another patient was diagnosed with occult TCS. All 11 pediatric NF1 patients exhibited symptoms associated with TCS, such as neuromotor dysfunction, abnormalities in urination, defecation, skeletal system abnormalities, or pain. Eight of the 11 pediatric NF1 patients had undergone genetic testing, which is a crucial part of the diagnostic process for NF1. The histopathological examination of the 11 pediatric NF1 patients who underwent surgery revealed that 10 patients had fatty infiltration of the filum terminale, while the remaining patient exhibited fibrosis of the filum terminale.
In the group of pediatric patients with NF1, the incidence of TCS, presenting to the pediatric neurosurgery clinic for any reason, is significantly higher than that of the general population. However, the pathophysiological relationship between NF1 and TCS is still not clear. It is essential to provide counseling to NF1 patients and their families about the symptoms of TCS to make sure they are aware and can seek the necessary care when needed. This underscores the importance of not only diagnosing NF1 but also staying alert for related conditions like TCS, which may have a higher occurrence in this demographic.
脊髓拴系综合征（TCS）与1型神经纤维瘤病（NF1）之间的联系尚不清楚。迄今为止，仅有两项研究表明小儿NF1患者群体中TCS的发生率较高。我们的研究旨在确定中国小儿NF1患者中TCS的发病率。
在一家三级儿童医院进行了一项单机构、为期8年的回顾性分析，研究对象为因TCS接受手术的NF1患者。分析了小儿NF1合并TCS患者的临床特征、影像学特征、基因检测结果和组织病理学发现。
在研究期间，共有115例小儿患者被诊断为NF1。在这115例NF1患者中，有11例被确诊患有TCS，占样本的9.6%。这一发生率显著高于普通人群中TCS的发病率，后者为0.17%。所有11例小儿NF1患者均接受了TCS手术。在11例被建议进行脊髓拴系松解手术的患者中，4例（36.4%）为女孩，这11例患者的平均年龄为8.6岁，年龄范围为2至17岁。11例小儿NF1患者的脊髓圆锥位置在L1至L2之间，其中10例（91%）有终丝脂肪瘤，在T1加权磁共振图像上表现为高信号强度。另一例患者被诊断为隐匿性TCS。所有11例小儿NF1患者均表现出与TCS相关的症状，如神经运动功能障碍、排尿和排便异常、骨骼系统异常或疼痛。11例小儿NF1患者中有8例进行了基因检测，这是NF1诊断过程的关键部分。对11例接受手术的小儿NF1患者进行的组织病理学检查显示，10例患者终丝有脂肪浸润，其余1例患者终丝表现为纤维化。
在小儿NF1患者群体中，因任何原因到小儿神经外科就诊的患者中TCS的发病率显著高于普通人群。然而，NF1与TCS之间的病理生理关系仍不清楚。向NF1患者及其家属提供有关TCS症状的咨询非常重要，以确保他们了解情况并在需要时能够寻求必要的治疗。这凸显了不仅要诊断NF1，还要对TCS等相关疾病保持警惕的重要性，因为在这一人群中TCS的发生率可能更高。
