Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia.

Abstract

Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Diffuse white-matter high signal intensity on T2-weighted MRI scans may occur in the early stages of ataxia telangiectasia. This disease should be considered in the differential diagnosis of any child with a history and MRI findings suggestive of one of the leukodystrophies. The nonneurologic manifestations of ataxia telangiectasia may be of help diagnostically in this clinical setting.

• Authors: E O Chung, J B Bodensteiner, P A Noorani, S S Schochet Jr
• Journal: Journal of child neurology (J Child Neurol) Vol. 9 Issue 1 Pg. 31-5 (Jan 1994) ISSN: 0883-0738 [Print] United States
• PMID: 7512106 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carcinoembryonic Antigen
• alpha-Fetoproteins

Topics

• Ataxia Telangiectasia (diagnosis, genetics, physiopathology)
• Brain (diagnostic imaging, physiopathology)
• Carcinoembryonic Antigen (analysis)
• Child, Preschool
• Chromosome Aberrations
• Chromosome Disorders
• Diagnosis, Differential
• Female
• Humans
• Leukoencephalopathy, Progressive Multifocal (diagnosis, genetics, physiopathology)
• Magnetic Resonance Imaging
• Radiography
• alpha-Fetoproteins (analysis)