Journal article
Autosomal Recessive Cerebellar Hypoplasia
Journal of child neurology, Vol.4(3), pp.189-194
07/1989
DOI: 10.1177/088307388900400307
PMID: 2768782
Abstract
Cerebellar hypoplasia is found in association with a variety of neurologic and systemic disorders. It is the primary finding in the uncommonly reported condition of autosomal recessive cerebellar hypoplasia. We describe two siblings with cerebellar hypoplasia documented in both by magnetic resonance imaging (MRI) and review the clinical features of previously reported cases of autosomal recessive cerebellar hypoplasia. The most common findings in this disorder are nonprogressive ataxia, strabismus, mental retardation, and speech delay with dysarthria. Previously reported cases have been confirmed by autopsy, pneumoencephalography, or computed tomographic (CT) scans. MRI clearly documents diffuse cerebellar hypoplasia and aids in distinguishing autosomal recessive cerebellar hypoplasia from other disorders. The pathophysiology of this disorder is uncertain, however studies of the weaver mutant mouse (an animal model of autosomal recessive cerebellar hypoplasia) suggest that an abnormality of the Bergmann glia may lead to the observed granule cell layer deficiency in these patients. This diagnosis should be considered for children with nonprogressive ataxia and families should be made aware of the 25% recurrence risk. (J Child Neurol 1989;4:189-193).
Details
- Title: Subtitle
- Autosomal Recessive Cerebellar Hypoplasia
- Creators
- Katherine D Mathews - University of Iowa, Stead Family Department of PediatricsAdel K Afifi - University of Iowa, Stead Family Department of PediatricsJames W Hanson - University of Iowa, Stead Family Department of Pediatrics
- Resource Type
- Journal article
- Publication Details
- Journal of child neurology, Vol.4(3), pp.189-194
- DOI
- 10.1177/088307388900400307
- PMID
- 2768782
- NLM abbreviation
- J Child Neurol
- ISSN
- 0883-0738
- eISSN
- 1708-8283
- Publisher
- United States
- Language
- English
- Date published
- 07/1989
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020995002771
Metrics
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