摘要目的:探讨家族性儿童终丝型脊髓拴系的临床特征和手术疗效。方法:回顾性分析2017年1月至2021年12月苏州大学附属儿童医院神经外科诊治的来源于16个家庭的32例家族性终丝型脊髓拴系患儿的临床资料，均为Ⅰ级亲属(同胞)受累。共23例患儿行经单侧椎间隙入路脊髓拴系松解术，其中终丝脂肪化型18例，终丝纤维化型5例。分析患儿的临床特征及手术疗效。结果:32例患儿中，男/女为17/15，其中有6个家庭均为男性，5个家庭均为女性；中位手术年龄为4岁2个月(11个月至13岁6个月)。12例(38%)有排便、排尿障碍，其中1例(3%)合并腰腿部疼痛；1例(3%)反复尿路感染；19例(56%)无临床症状。13例(41%)合并腰骶部皮肤异常改变，7例(22%)合并其他系统疾病。其中5个家庭的10例(31%)患儿首发症状均为遗尿，3个家庭的6例(19%)患儿均有腰骶部皮肤异常改变。MRI显示，终丝脂肪化型20例(62%)，终丝纤维化型12例(38%)，其中12个家庭的24例(75%)患儿终丝病变类型相同。脊髓圆锥位于L 1 18例，位于L 2 12例，位于T 1 22例，其中10个家庭的20例(63%)患儿的脊髓圆锥位置相同(T 12~L 2)。手术治疗的23例患儿，术后3~6个月MRI显示均为终丝离断且无粘连。术后临床症状的中位随访时间为15个月(3~30个月)，术前有症状的10例患儿，术后8例症状治愈或明显改善；无一例患儿有新发神经功能缺损症状。 结论:终丝型脊髓拴系具有家族遗传倾向，来源于相同家族的患儿具有部分相同的临床表现。手术治疗安全，可有效改善脊髓拴系造成的神经功能缺损症状。

abstractsObjective:To investigate the clinical characteristics and surgical results of familial tight terminale syndrome.Methods:A retrospective analysis was conducted on the clinical data of 32 children with tight filum terminale syndrome from 16 families who were diagnosed and treated in the Department of Neurosurgery, Children′s Hospital of Soochow University from January 2017 to December 2021. All of the patients had first-degree relative (sibling) involvement. A total of 23 children underwent tethered cord release via unilateral intervertebral approach, including 18 cases of filum terminale lipidation type and 5 cases of filum terminale fibrosis type. The clinical features and surgical outcomes of the children were analyzed.Results:Of the 32 children, M/F ratio was 17/15. Patients were all males in 6 families and females in 5 families. The median age was 4 years and 2 months (range: 11 months-13 years and 6 months). Twelve patients (38%) had defecation and urination disorders, including 1 patient (3%) with lumbar and leg pain. One patient (3%) had recurrent urinary tract infections. Nineteen patients (56%) had no clinical symptoms. Abnormal lumbosacral skin changes were present in 13 patients (41%). Seven patients (22%) had other systemic diseases. Among them, 10 (31%) children in 5 families had enuresis as the initial symptom, and 6 (19%) children in 3 families had abnormal lumbosacral skin changes. MRI showed that 20 (62%) had filum terminale lipidation, 12 (38%) had filum terminale fibrosis, and 24 (75%) children in 12 families had the same type of filum terminale lesion. The conus medullaris was located in L 1 in 18 patients, L 2 in 12, and T 1 in 22, and 20 (63%) children from 10 families had the common position of conus medullaris (T 12-L 2). In 23 patients treated surgically, MRI showed that the filum terminale was severed and there was no adhesion at 3 to 6 months post surgery. The median follow-up time of clinical symptoms was 15 months (range: 3-30 months). Of the 10 children with preoperative symptoms, 8 were cured or significantly improved after surgery. None had new symptoms of neurological deficits. Conclusions:The tight filum terminale syndrome has a familial genetic predisposition, and children from the same family have some of the same clinical manifestations. Surgical treatment is safe and can effectively improve the symptoms of neurological deficits caused by tethered cord syndrome.