Treatment consisted in Growth Hormone (GH) administration plus two daily sessions of specific physiotherapy. GH treatment was given 5 days/week during 3-months followed by 15-days without GH administration; this protocol was repeated during 5 years, being GH doses periodically adjusted to the weight of the patient.
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Five years after the treatment commenced the GMFM-88 test reached a score of 78.38% (maximum value: 100), while ASIA motor score was 84 (maximum value: 100). Full control of sphincters has been achieved.
To our knowledge this is the first case in which highly significant improvements have been obtained in this syndrome, until now considered to be irreversible. Most likely the early treatment with GH and rehabilitation was the factor responsable for the improvements observed. Since GH has been the only variable we introduced with regard to usual rehabilitation therapies, we think that the hormone induced the proliferation and differentiation of SC ependymal stem cells that led to the formation of a net of new specific nervous connections (perhaps arising from the last existing spinal nerve), although only a tractography may explain what was the origin of the new innervation, since the last MRI study performed when the child was 5-years old did not reveal any change in the vertebral columna and SC with regard to the first MRI study (7-days old). No adverse effects were observed during the treatent with GH and melatonin.
Figure 1. 3D reconstruction of a CT-SCAN. Age 4-years. It can be seen where the SC interrupted its development (hypoplastic L3), the existence of sacral agenesis, the articulation of iliac bones and the rotation of the left hip.
Figure 2. 3-months after the treatment began. Note the abnormal position of the legs and feet. The child only could move his arms and trunk.
Figure 3. 1 year of treatment. Note the position of his feet. Sensitivity existed but he only could move by crawling with his arms and trunk.
Figure 4. After 2-years of treatment full sensitivity existed. In the image the child is signaling where he had been touched (his eyes were covered with a pillow.
Figure 5. 4-years of treatment. The child is able to make plantar flexion (against resistence) and dorsiflexion (not showed) with both feet.
Figure 6. 5-years of treatment. The child is able to get up from the floor and keep standing with arms outstretched.
Written By: Jesús Devesa, MD, PhD, Scientific Direction, Medical Center Foltra, 15886 Teo, Spain
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