RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - REPORT OF A CASE WITH REVIEW OF THE LITERATURE AND CORRELATION WITH OTHER PEROXISOMAL DISORDERS

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - REPORT OF A CASE WITH REVIEW OF THE LITERATURE AND CORRELATION WITH OTHER PEROXISOMAL DISORDERS

Agamanolis D P; Novak R W

Pediatric Pathology & Laboratory Medicine

1995

1995-05

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

Pathology; Pediatrics; peroxisomal disorders; plasmalogen; rhizomelic chondrodysplasia; zellweger syndrome

Journal Article or Conference Abstract Publication

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

503-513

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