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Ataxia telangiectasia with long survival.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia 1998 October
A few patients with ataxia telangiectasia survive into the 3rd decade. In the central nervous system, dilated meningeal veins have been noted in a few cases but as a rule the vasculature in both brain and spinal cord appears normal. We present the case of the longest reported surviving patient with ataxia telangiectasia who died at the age of 34 years and showed numerous vascular malformations with gliosis and haemosiderin in the cerebral white matter and spinal cord. These are similar to the features described in three previously reported long surviving cases of ataxia telangiectasia. In addition, however, numerous corpora amylacea were present, a finding not previously described. Also presented is the magnetic resonance imaging (MRI) scan which was of diagnostic-value; there have been very few MRI scans recorded in ataxia telangiectasia. It showed lesions consistent with vascular malformations in cerebral white matter with surrounding abnormal tissue consistent with gliosis. Gross cerebellar atrophy was also demonstrated. It is significant that MRI scans 6 months apart at the age of 32 years showed progression of the lesions.
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