A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

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. 1. Introduction Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder of peroxisomal metabolism, with an estimated incidence 1？:？100.000. There are 3 genetic subtypes. RCDP type 1 (OMIM 215100), caused by mutations in the PEX7 gene, is the most common type. RCDP type 2 (OMIM 222765) and 3 (OMIM 600121) are single enzyme deficiencies in the plasmalogen biosynthesis pathway. RCP type 2 arises secondary to mutations in the acyl-CoA:dihydroxyacetone phosphate acyltransferase (DHAPAT) gene, and RCP type 3 arises from mutations in the alkyl-dihydroxyacetone phosphate synthase (ADAPS) gene [1, 2]. The main features of the disease are shortening of the proximal long bones, punctate calcifications in the metaphysis and epiphysis of long bones and the thoracic and lumbar vertebrae, dysmorphic face, and severe growth retardation. Cervical stenosis is very rarely reported in rhizomelic CDP cases [1, 3]. Because of underlying vertebral abnormalities, spinal stenosis, often seen together with brachytelephalangic chondrodysplasia punctata, can cause progressive neurological findings. Here, we report a case of RCDP with cervical spinal stenosis in newborn. 2. Case The term infant was admitted to the neonatology department because of its atypical facial appearance and extremity anomalies at the 2nd hour of her life. The female infant was born at 38 weeks of gestation from the fourth pregnancy of a healthy 22-year-old mother and a 30-year-old related father. The mother was under routine prenatal follow-up during pregnancy. She did not have any chronic disease and there was no history of exposure to any known embryopathic agents and, in particular, no warfarin therapy or alcohol use had been given. Prenatal ultrasonographic assessments reported proximal limb shortening. The mother had two miscarriages, as well as a baby with skeletal