Rhizomelic Chondrodysplasia Punctata: Report of a Case with Review of the Literature and Correlation with Other Peroxisomal Disorders

Abstract

A 3-year-old girl rhizomelic chondrodysplasia punctata (RCDP) had serve micrencephaly but a normal gyral pattern, neuronal density, and cortical cytoarchitecture. The white matter was diffusely decreased in mass but normally myelinated. There was optic atrophy and cerebellar degeneration. Leukodystrophy in peroxisomal disorders is caused by elevated very long chain fatty acids. The absence of a fatty acid abnormality in RCDP explains the normal myleination. Cerebellar and retinal degeneration and possible stunted dendritogenesis may be due to plasmalogen deficiency, which is the most severe biochemical abnormality in RCDP.

Key Words:

• peroxisomal disorders
• plasmalogen
• rhizomelic chondrodysplasia