Brain edema with clasmatodendrosis complicating ataxia telangiectasia

Abstract

Ataxia-telangiectasia is a chronic progressive disorder affecting the nervous and immune systems, caused by a genetic defect in the ATM protein. Clasmatodendrosis, a distinct form of astroglial death, has rarely been reported in ataxia-telangiectasia. Neuropathology of our patient disclosed diffuse edema of the cerebral and cerebellar white matter with prominent clasmatodendrosis, implicating ATM in the regulation of astroglial cell death.

Keywords: Ataxia-telangiectasia; Clasmatodendrosis; NF-kappa B; Tumor suppressor protein p53.