title: A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
abstract: 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 at age 11 showed a small nodular lesion with contrast enhancement in the left dorsal portion of the cervicomedullary junction. Her episodic vomiting improved spontaneously at age 13, and she became neurologically asymptomatic. The enhancement of the lesion disappeared simultaneously, although the plaque remained. Longitudinal MRI observations, however, revealed insidiously progressive cervicomedullary atrophy without a signal change. This case broadens our knowledge of AxD: (1) molecular analysis of the GFAP gene is warranted in patients with MRI evidence of tumor-like lesions in the brainstem, particularly if they present with isolated episodic vomiting and/or anorexia; (2) the disease can be self-remitting for at least 12 years; (3) cervicomedullary atrophy, characteristic of the adult form, can be insidiously progressive without a signal change before the clinical symptoms appear.
authors.affiliation: Department of Neurology, Jichi Medical University, 3311-1, Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan. mnamekaw@jichi.ac.jp
authors.forename: Michito
authors.initials: M
authors.lastname: Namekawa
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Junko
authors.initials: J
authors.lastname: Honda
authors.forename: Kumi
authors.initials: K
authors.lastname: Sakoe
authors.forename: Tametou
authors.initials: T
authors.lastname: Naoi
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
authors.forename: Imaharu
authors.initials: I
authors.lastname: Nakano
mesh_terms: D000328:Adult; D038261:Alexander Disease / Q000235:genetics / Q000473:pathology*; D001284:Atrophy / Q000473:pathology; D002574:Cervical Vertebrae / Q000473:pathology*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008526:Medulla Oblongata / Q000473:pathology*; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D013997:Time Factors