Document Detail

Rhizomelic chondrodysplasia punctata: report of a case with review of the literature and correlation with other peroxisomal disorders.
MedLine Citation:
PMID:  8597837     Owner:  NLM     Status:  MEDLINE    
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.
D P Agamanolis; R W Novak
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Review    
Journal Detail:
Title:  Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association     Volume:  15     ISSN:  1077-1042     ISO Abbreviation:  Pediatr Pathol Lab Med     Publication Date:    1995 May-Jun
Date Detail:
Created Date:  1996-04-22     Completed Date:  1996-04-22     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9518033     Medline TA:  Pediatr Pathol Lab Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  503-13     Citation Subset:  IM    
Department of Pathology, Children's Hospital Medical Center of Akron, OH 44308-1062, USA.
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MeSH Terms
Brain / metabolism,  pathology
Child, Preschool
Chondrodysplasia Punctata, Rhizomelic / metabolism,  pathology*
Growth Disorders / pathology
Peroxisomal Disorders / metabolism,  pathology*
Psychomotor Disorders / pathology

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