ATAXIA-TELANGIECTASIA WITH LONG SURVIVAL

A few patients with ataxia telangiectasia survive into the 3rd decade. In the central nervous system, dilated meningeal veins have been note d in a few cases but as a rule the vasculature in both brain and spina l cord appears normal. We present the case of the longest reported sur viving patient with ataxia telangiectasia who died at the age of 34 ye ars and showed numerous vascular malformations with gliosis and haemos iderin 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 corpor a amylacea were present, a finding not previously described. Also pres ented is the magnetic resonance imaging (MRI) scan which was of diagno stic-value; there have been very few MRI scans recorded in ataxia tela ngiectasia. It showed lesions consistent with vascular malformations i n cerebral white matter with surrounding abnormal tissue consistent wi th gliosis. Gross cerebellar atrophy was also demonstrated. It is sign ificant that MRI scans 6 months apart at the age of 32 years showed pr ogression of the lesions.