Send to:

Choose Destination
See comment in PubMed Commons below
Pediatr Pathol Lab Med. 1995 May-Jun;15(3):503-13.

Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.

Author information

  • 1Department of Pathology, Children's Hospital Medical Center of Akron, OH 44308-1062, USA.


A 3-year-old girl with rhizomelic chondrodysplasia punctata (RCDP) had severe microcephaly 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 myelination. Cerebellar and retinal degeneration and possible stunted dendritogenesis may be due to plasmalogen deficiency, which is the most severe biochemical abnormality in RCDP.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk