Brain edema with clasmatodendrosis complicating ataxia telangiectasia

Publication date: Available online 25 March 2017
Source:Brain and Development
Author(s): Konomi Shimoda, Masakazu Mimaki, Shuhei Fujino, Masato Takeuchi, Rumi Hino, Hiroshi Uozaki, Masaharu Hayashi, Akira Oka, Masashi Mizuguchi
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.



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