Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation

Caudal regression syndrome (CRS) is a malformation that occurs during the fetal period, and is mainly characterized by the incomplete development of the spinal cord (SC), which is often accompanied by other developmental abnormalities. The present study was performed in a 2-month-old boy with CRS, born to a type I diabetic mother, who presented interruption of the SC at the L5-L4 level, pelvic dislocation, sacral agenesis, hypoplastic femurs, lack of innervation of the lower limbs (spastic paraplegia), and a neurogenic bladder and bowel. Given the positive results we obtained in a previous study in a similar case, this patient was treated with GH (0.04 mg/kg/day, 5 days/week), melatonin (20 mg/day), and rehabilitation. The treatment only lasted 18 months, due to family problems. Blood tests and physical examinations were performed every 3 months initially and then every 6 months. Interestingly, despite GH administration, the child presented low plasma glucose and IGF-I values, which did not increase throughout the treatment, although there was significant growth of the patient, also indicated by elevated plasma alkaline phosphatase values. At the end of treatment, the gross motor function test (GMFM)-88 score increased from 0.93 (on admission) to 47.94. Sensory responses appeared in the lower limbs, and the patient was able to move his leg muscles in all directions and control his sphincters. Ten months after discharge, the patient was able to walk only with the aid of a back walker. GH treatment did not produce any adverse effects. In summary, despite the short duration of treatment, GH plus rehabilitation has been useful in innervating distal areas below the level of the incomplete spinal cord in CRS. GH likely acted on ependymal neural stem cells, as the hormone does on neurogenic niches in the brain, and rehabilitation helped achieve near-full functionality.