PMID: 8597837May 1, 1995Paper

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

Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association
D P Agamanolis, R W Novak

Abstract

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.

References

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Citations

Jul 1, 1997·Archives of Gerontology and Geriatrics·T Brosche
Oct 22, 2003·Progress in Neurobiology·Justyna R Sarna, Richard Hawkes
Oct 8, 1998·Experimental Gerontology·T Brosche, D Platt
Dec 22, 2015·Biochimica Et Biophysica Acta·Johannes BergerMarkus Kunze
Oct 7, 2003·Annual Review of Genomics and Human Genetics·Sabine WellerDavid Valle

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