A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy

摘要: We present here a 25-year-old woman with genetically confirmed (p.R276L mutation in the GFAP gene) juvenile-onset AxD. Episodic vomiting appeared at age nine, causing anorexia and insufficient growth. Brain MRI 11 showed small nodular lesion contrast enhancement left dorsal portion of cervicomedullary junction. Her episodic improved spontaneously 13, she became neurologically asymptomatic. The disappeared simultaneously, although plaque remained. Longitudinal observations, however, revealed insidiously progressive atrophy without signal change. This case broadens our knowledge AxD: (1) molecular analysis gene is warranted patients evidence tumor-like lesions brainstem, particularly if they isolated and/or anorexia; (2) disease can be self-remitting for least 12 years; (3) atrophy, characteristic adult form, change before clinical symptoms appear.