Vanishing white matter and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype

被引:20
作者
Boltshauser, E
Barth, PG
Troost, D
Martin, E
Stallmach, T
机构
[1] Univ Zurich, Childrens Hosp, CH-8032 Zurich, Switzerland
[2] Emma Childrens Hosp AMC, Amsterdam, Netherlands
[3] Univ Zurich Hosp, Dept Pathol, CH-8091 Zurich, Switzerland
关键词
white matter disease; congenital cataract; arthrogryposis; magnetic resonance imaging; hearing impairment; polyneuropathy; ovarian dysgenesis; cerebro-oculo-facial-skeletal syndrome COFS;
D O I
10.1055/s-2002-32363
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We describe a girl with intrauterine growth retardation, congenital cataracts, mild dysmorphic features and joint contractures. MRI performed at I week and 6 months, demonstrated postnatal cerebral and cerebellar atrophy and loss of white matter. The patient died at 10 months. Post-mortem examination revealed ovarian dysgenesis. There was normal development of neuronal and axonal structures, but lack of myelination in brainstem and cerebellum. Subcortical and deep white matter of the cerebral hemispheres were largely destroyed (cavitated), with preserved, but unmyelinated axons in other brain areas. These findings are compatible with a severe leukodystrophic process of pre- or perinatal onset. The exact pathogenesis is not known.
引用
收藏
页码:57 / 62
页数:6
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