Alexander disease

GC: n

S: NCBI - https://www.ncbi.nlm.nih.gov/books/NBK1172/(external link) (last access: 20 March 2017); NIH - https://ghr.nlm.nih.gov/condition/alexander-disease(external link) (last access: 20 March 2017).

N: 1. - Alexander (pn): Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander)
- disease (n): Early 14c., from Old French desaise (‘discomfort, inconvenience’), des- (‘dis = without, away’) + -aise (‘ease = physical comfort, undisturbed state of the body; tranquility, peace of mind’).
2. An infantile form of leukodystrophy, characterized by a collection of eosinophilic material at the surface of the brain and around its blood vessels, resulting in brain enlargement. It also causes macrocephaly, seizures, and spasticity.
3. Other names: Alexander's disease, ALX, AxD, demyelinogenic, leukodystrophy, dysmyelinogenic leukodystrophy, fibrinoid degeneration of astrocytes and leukodystrophy with Rosenthal fibers.
4. Cultural Interrelation: Mentioned in House, M.D./Babies & Bathwater (episode 18, season 1).

S: 1. Webmd - http://www.goo.gl/2GCQpa(external link) (last access: 20 March 2017); OED - http://www.goo.gl/NwSTnL(external link) ; http://www.goo.gl/YwGHxZ(external link) (last access: 20 March 2017). 2. TFD - http://www.goo.gl/xNiGgK(external link) (last access: 20 March 2017). 3. GHR - http://www.goo.gl/cW6t94(external link) (last access: 20 March 2017); NCBI - http://www.goo.gl/dyRx8q(external link) (last access: 20 March 2017). 4. TMH p. 63; http://tviv.org/House(external link),_M.D./Babies_%26_Bathwater (last access: 1 March 2018).

SYN: dysmyelogenic leukodystrophy, dysmyelogenic leukodystrophy-megalobare, fibrinoid degeneration of astrocytes, fibrinoid leukodystrophy, hyaline panneuropathy, leukodystrophy with rosenthal fibers, megalencephaly with hyaline inclusion, megalencephaly with hyaline panneuropathy.

S: NORD - https://rarediseases.org/rare-diseases/alexander-disease/(external link) (last access: 20 March 2017)

CR: epilepsy


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