New X‐linked mental retardation disorder with Dandy‐Walker malformation, basal ganglia disease, and seizures
作者:
Anjana L. Pettigrew,
Laird G. Jackson,
David H. Ledbetter,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1991)
卷期:
Volume 38,
issue 2‐3
页码: 200-207
ISSN:0148-7299
年代: 1991
DOI:10.1002/ajmg.1320380206
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: X‐linked inheritance;iron deposition;Hallervorden‐Spatz disease
数据来源: WILEY
摘要:
AbstractWe report on a 4 generation family of individuals with an X‐linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy‐Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden‐Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a “presenile dementia.” At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X‐linked mental retardati
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