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A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse
  1. Takashi Ayaki1,
  2. Miho Shinohara1,
  3. Shinsui Tatsumi1,
  4. Michito Namekawa2,
  5. Toru Yamamoto1
  1. 1Department of Neurology, Osaka Saiseikai Nakatsu Hospital, Osaka City, Japan
  2. 2Department of Neurology, Jichi Medical University, Tochigi, Japan
  1. Correspondence to Dr Takashi Ayaki, Osaka Saiseikai Nakatsu Hospital, 2-10-39 Shibata, Kita-ku, Osaka city 530-0012, Japan; 91059{at}nakatsu.saiseikai.or.jp

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Introduction

Adult Alexander disease is a rare leucodystrophy with severe atrophy of the lower brainstem and upper cervical cord.1 The pathological character is the presence of Rosenthal fibres that contain aggregates of intermediate protein, GFAP, associated with mutations in GFAP gene.2 Because pathogenesis is degenerative, the most typical clinical course is slowly progressive; the intermittent course has not been sufficiently described so far.2 We show a case of genetically confirmed adult Alexander's disease with acute exaggeration and remission, and relapse.

Case report

A 33-year-old woman had been well until she suddenly fell down and lost consciousness in 2002. She had left-sided paresis and dysarthria, and was admitted to a hospital. Her medical history was unremarkable except for mild diabetes mellitus. There was no family history of neurological diseases or consanguineous marriage. Her father died of heart disease (in his 40s), her mother died of diabetes mellitus and angina pectoris (in her 50s), and her two daughters were healthy. Brain MRI showed atrophy of the upper cervical cord and T2-hyperintensity in the bilateral periventricular areas and the medulla. The patient was treated for acute ischaemic stroke with medical therapy and rehabilitation (figure1A). She gradually improved, with the ability to walk with an aid 6 months after the onset and was discharged home 1 year after the onset with left-sided weakness and slight dysarthria. There was no exacerbation or improvement of weakness …

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