A case of rhizomelic chondrodysplasia punctata in newborn

Abstract

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.

Figure 1

Proximal shortness, thick and short diaphyses, large and irregular metaphyses, and punctate calcifications in the epiphyses in the long bones and coronal clefts not included in the vertebral bodies.

Figure 2

On the cervical spinal MRI, spinal stenosis at C4-5, C5-6, and C6-7 levels.