Abstract：
Pediatric achondroplasia is often associated with conditions requiring neurosurgical intervention, including CSF diversion and multilevel spinal decompression. However, there is a lack of clinical guidelines and reliable estimates of the benefits and risks of these interventions. This study aimed to summarize the literature on the neurosurgical management of pediatric achondroplasia patients in order to aid in determining optimal treatment and standardization of care.
A systematic review of peer-reviewed studies with an objective diagnosis of achondroplasia, patient demographic information, and available data on neurosurgical interventions performed before 18 years of age for cervicomedullary compression, spinal stenosis, and hydrocephalus was performed. Study quality and risks of bias were assessed using standardized scores. Independent patient data on surgical indications, outcomes, reoperations, and complication risks were aggregated using means and percentages.
Of 204 records, 25 studies with 287 pediatric achondroplasia patients (mean age 25 ± 36 months) treated for cervicomedullary compression (n = 153), spinal stenosis (n = 100), and obstructive hydrocephalus (n = 34) were evaluated. Symptomatic cervicomedullary compression occurred early in life (mean age 31 ± 25 months), with apnea (48%), T2-weighted MRI cord signal (28%), myelopathy (27%), and delayed motor skills (15%) requiring foramen magnum decompression observed in 99% of patients, as well as cervical laminectomy in 65% of patients. Although 91% of treated patients had resolution of symptoms, 2% mortality, 9% reoperation, and 21% complication rates were reported. Spinal stenosis was treated in relatively older children (mean age 13 ± 3 years) with laminectomy (23%), as well as with instrumented fusion (73%) for neurogenic claudication (59%), back pain (15%), and sciatica (8%). Although 95% of patients had symptom resolution after surgery, 17% reported complications and 18% required reoperation. Of the hydrocephalus patients (mean age 56 ± 103 months), half were treated with endoscopic third ventriculostomy (ETV) and half had a shunt placed for progressive ventriculomegaly (66%), headaches (32%), and delayed cognitive development (4%). The shunted patients had a 3% mortality rate and an average of 1.5 shunt revisions per patient. None of the patients who underwent ETV as the primary procedure required a revision.
Neurosurgical intervention for pediatric achondroplasia conditions, including cervicomedullary compression, spinal stenosis, and hydrocephalus, is associated with high recovery rates and good outcomes. However, complications and reoperations are common. Further studies with follow-up into adulthood are needed to evaluate the long-term outcomes.
A systematic review of peer-reviewed studies with an objective diagnosis of achondroplasia, patient demographic information, and available data on neurosurgical interventions performed before 18 years of age for cervicomedullary compression, spinal stenosis, and hydrocephalus was performed. Study quality and risks of bias were assessed using standardized scores. Independent patient data on surgical indications, outcomes, reoperations, and complication risks were aggregated using means and percentages.
Of 204 records, 25 studies with 287 pediatric achondroplasia patients (mean age 25 ± 36 months) treated for cervicomedullary compression (n = 153), spinal stenosis (n = 100), and obstructive hydrocephalus (n = 34) were evaluated. Symptomatic cervicomedullary compression occurred early in life (mean age 31 ± 25 months), with apnea (48%), T2-weighted MRI cord signal (28%), myelopathy (27%), and delayed motor skills (15%) requiring foramen magnum decompression observed in 99% of patients, as well as cervical laminectomy in 65% of patients. Although 91% of treated patients had resolution of symptoms, 2% mortality, 9% reoperation, and 21% complication rates were reported. Spinal stenosis was treated in relatively older children (mean age 13 ± 3 years) with laminectomy (23%), as well as with instrumented fusion (73%) for neurogenic claudication (59%), back pain (15%), and sciatica (8%). Although 95% of patients had symptom resolution after surgery, 17% reported complications and 18% required reoperation. Of the hydrocephalus patients (mean age 56 ± 103 months), half were treated with endoscopic third ventriculostomy (ETV) and half had a shunt placed for progressive ventriculomegaly (66%), headaches (32%), and delayed cognitive development (4%). The shunted patients had a 3% mortality rate and an average of 1.5 shunt revisions per patient. None of the patients who underwent ETV as the primary procedure required a revision.
Neurosurgical intervention for pediatric achondroplasia conditions, including cervicomedullary compression, spinal stenosis, and hydrocephalus, is associated with high recovery rates and good outcomes. However, complications and reoperations are common. Further studies with follow-up into adulthood are needed to evaluate the long-term outcomes.
摘要：
目的：小儿软骨发育不全通常与需要神经外科介入治疗的疾病有关，包括脑脊液改道和多级脊柱减压。然而,缺乏临床指南和对这些干预措施的获益和风险的可靠估计.本研究旨在总结有关小儿软骨发育不全患者神经外科治疗的文献，以帮助确定最佳治疗方法和标准化护理。
方法：对客观诊断为软骨发育不全的同行评审研究的系统评价，患者人口统计信息，以及在18岁之前对颈髓腔压迫进行神经外科干预的现有数据，椎管狭窄,并进行了脑积水。使用标准化评分评估研究质量和偏倚风险。关于手术适应症的独立患者数据，结果，重新操作,和并发症风险使用均值和百分比进行汇总。
结果：在204条记录中，25项研究涉及287名接受子宫颈髓腔压迫治疗的儿童软骨发育不全患者（平均年龄25±36个月）（n=153），椎管狭窄（n=100），评估了梗阻性脑积水（n=34）。症状性颈髓压迫发生在生命早期（平均年龄31±25个月），呼吸暂停（48%），T2加权MRI绳信号（28％），脊髓病（27%），在99%的患者中观察到需要大孔减压的延迟运动技能(15%)，以及65％的患者的颈椎椎板切除术。尽管91%的治疗患者症状缓解，2%死亡率,9%再次手术,报告了21%的并发症发生率。椎管狭窄治疗年龄较大的儿童（平均年龄13±3岁）采用椎板切除术（23%），以及用于神经源性跛行（59％）的仪器融合（73％），背部疼痛（15%），和坐骨神经痛(8%)。尽管95％的患者在手术后症状缓解，17%报告并发症，18%需要再次手术。脑积水患者（平均年龄56±103个月），一半接受了内窥镜第三脑室造瘘术（ETV）治疗，一半接受了渐进性脑室肥大的分流术（66％），头痛（32%）和认知发育迟缓(4%)。分流患者的死亡率为3％，平均每位患者进行1.5次分流修正。没有接受ETV作为主要程序的患者需要进行修订。
结论：神经外科治疗小儿软骨发育不全，包括颈髓腔压迫,椎管狭窄,和脑积水,与高回收率和良好结果相关。然而,并发症和再次手术是常见的。需要对成年期进行随访的进一步研究来评估长期结果。
方法：对客观诊断为软骨发育不全的同行评审研究的系统评价，患者人口统计信息，以及在18岁之前对颈髓腔压迫进行神经外科干预的现有数据，椎管狭窄,并进行了脑积水。使用标准化评分评估研究质量和偏倚风险。关于手术适应症的独立患者数据，结果，重新操作,和并发症风险使用均值和百分比进行汇总。
结果：在204条记录中，25项研究涉及287名接受子宫颈髓腔压迫治疗的儿童软骨发育不全患者（平均年龄25±36个月）（n=153），椎管狭窄（n=100），评估了梗阻性脑积水（n=34）。症状性颈髓压迫发生在生命早期（平均年龄31±25个月），呼吸暂停（48%），T2加权MRI绳信号（28％），脊髓病（27%），在99%的患者中观察到需要大孔减压的延迟运动技能(15%)，以及65％的患者的颈椎椎板切除术。尽管91%的治疗患者症状缓解，2%死亡率,9%再次手术,报告了21%的并发症发生率。椎管狭窄治疗年龄较大的儿童（平均年龄13±3岁）采用椎板切除术（23%），以及用于神经源性跛行（59％）的仪器融合（73％），背部疼痛（15%），和坐骨神经痛(8%)。尽管95％的患者在手术后症状缓解，17%报告并发症，18%需要再次手术。脑积水患者（平均年龄56±103个月），一半接受了内窥镜第三脑室造瘘术（ETV）治疗，一半接受了渐进性脑室肥大的分流术（66％），头痛（32%）和认知发育迟缓(4%)。分流患者的死亡率为3％，平均每位患者进行1.5次分流修正。没有接受ETV作为主要程序的患者需要进行修订。
结论：神经外科治疗小儿软骨发育不全，包括颈髓腔压迫,椎管狭窄,和脑积水,与高回收率和良好结果相关。然而,并发症和再次手术是常见的。需要对成年期进行随访的进一步研究来评估长期结果。
