[Cervical spinal cord compression in chondrodysplasia punctata: report of two cases]

To present two patients with chondrodysplasia punctata and cervical spine compression who had a chronic myelopathy.

The patients are a boy who was seen in our service at 13 years of age because of a progressive spastic quadriparesis since infancy and muscle spasm, and a girl, actually 15-year-old, who was studied by us since 2 years of age because of the same problem and moderate mental retardation. Magnetic resonance study disclosed narrowing of the spinal canal at the level of C1-C2 and C5-C6. Surgical decompression was performed in both cases. The case 2 also received physiotherapy, myorrelaxing medication and botulinum toxin treatments. The case 2 has short stature and intellectual level below normality.

Chondrodysplasia punctata, that exhibits well defined clinical and radiological manifestations, is a disease that can present spinal cord compression during the first years of life. However, other pathological causes of still unknown origin may contribute to the progressive evolution and lack of recuperation of the problems derived of the spasticity as well as the mental retardation and the short stature.