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Cerebral White-Matter Changes Suggesting Leukodystrophy in Ataxia Telangiectasia

Department of Neurology and Pediatrics, West Virginia University Health Science Center, Morgantown, WV

J.B. Bodensteiner, MD

Department of Neurology and Pediatrics, West Virginia University Health Science Center, Morgantown, WV

P.A. Noorani, MD

Pediatric Department, Section of Pediatric Neurology Keesler Medical Center, Keesler Air Force Base, Biloxi, MS

S.S. Schochet, Jr, MD

Department of Pathology West Virginia University Health Science Center, Morgantown, WV

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. (J Child Neurol 1994;9:31-35).

Journal of Child Neurology, Vol. 9, No. 1, 31-35 (1994)
DOI: 10.1177/088307389400900106


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