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

被引：15

作者：

AGAMANOLIS, DP ^{[1
]}

NOVAK, RW ^{[1
]}

机构：

[1] NE OHIO UNIV,COLL MED,AKRON,OH 44308

来源：

PEDIATRIC PATHOLOGY & LABORATORY MEDICINE | 1995年 / 15卷 / 03期

关键词：

PEROXISOMAL DISORDERS; PLASMALOGEN; RHIZOMELIC CHONDRODYSPLASIA;

D O I：

10.3109/15513819509026986

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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.

引用

页码：503 / 513

页数：11

共 25 条

[1] CEREBRO-HEPATO-RENAL SYNDROME - REPORT OF A CASE WITH HISTOCHEMICAL AND ULTRASTRUCTURAL OBSERVATIONS [J].