Devesa Jesús, Alonso Alba, López Natalia, García José, Puell Carlos I, Pablos Tamara, Devesa Pablo
Scientific Direction, Medical Center Foltra, 15886 Teo, Spain.
Children Physiotherapy, Medical Center Foltra, 15886 Teo, Spain.
Int J Mol Sci. 2017 Jan 23;18(1):230. doi: 10.3390/ijms18010230.
Caudal regression syndrome (CRS) is a malformation occurring during the fetal period and mainly characterized by an incomplete development of the spinal cord (SC), which is often accompanied by other developmental anomalies. We studied a 9-month old child with CRS who presented interruption of the SC at the L2-L3 level, sacral agenesis, a lack of innervation of the inferior limbs (flaccid paraplegia), and neurogenic bladder and bowel. Given the known positive effects of growth hormone (GH) on neural stem cells (NSCs), we treated him with GH and rehabilitation, trying to induce recovery from the aforementioned sequelae. The Gross Motor Function Test (GMFM)-88 test score was 12.31%. After a blood analysis, GH treatment (0.3 mg/day, 5 days/week, during 3 months and then 15 days without GH) and rehabilitation commenced. This protocol was followed for 5 years, the last GH dose being 1 mg/day. Blood analysis and physical exams were performed every 3 months initially and then every 6 months. Six months after commencing the treatment the GMFM-88 score increased to 39.48%. Responses to sensitive stimuli appeared in most of the territories explored; 18 months later sensitive innervation was complete and the patient moved all muscles over the knees and controlled his sphincters. Three years later he began to walk with crutches, there was plantar flexion, and the GMFM-88 score was 78.48%. In summary, GH plus rehabilitation may be useful for innervating distal areas below the level of the incomplete spinal cord in CRS. It is likely that GH acted on the ependymal SC NSCs, as the hormone does in the neurogenic niches of the brain, and rehabilitation helped to achieve practically full functionality.
尾椎退化综合征(CRS)是一种发生在胎儿期的畸形,主要特征是脊髓(SC)发育不完全,常伴有其他发育异常。我们研究了一名9个月大的CRS患儿,其脊髓在L2 - L3水平中断,骶骨发育不全,下肢无神经支配(弛缓性截瘫),并伴有神经源性膀胱和肠道问题。鉴于生长激素(GH)对神经干细胞(NSCs)已知的积极作用,我们对他进行了GH治疗和康复训练,试图促使其从上述后遗症中恢复。粗大运动功能测试(GMFM)- 88测试评分是12.31%。血液分析后,开始GH治疗(0.3毫克/天,每周5天,持续3个月,然后停药15天)和康复训练。该方案持续了5年,最后一次GH剂量为1毫克/天。最初每3个月进行一次血液分析和身体检查,之后每6个月进行一次。治疗开始6个月后,GMFM - 88评分升至39.48%。在大多数检查区域出现了对敏感刺激的反应;18个月后感觉神经支配完全恢复,患者能够活动膝盖以上的所有肌肉并控制括约肌。3年后,他开始借助拐杖行走,出现了跖屈,GMFM - 88评分是78.48%。总之,GH加康复训练可能有助于使CRS中脊髓不完全水平以下的远端区域获得神经支配。GH可能作用于室管膜脊髓神经干细胞,就像它在脑的神经发生微环境中所起的作用一样,而康复训练则有助于实现几乎完全的功能恢复。