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Alexander Disease Type II

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Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics

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Abstract

Alexander disease (AxD) is an autosomal dominant or sporadically inherited astrogliopathy caused by mutations in an intermediate filament protein, glial fibrillary acidic protein (encoded by GFAP). Individuals may present with an infantile-onset leukoencephalopathy and seizures, with significant basal ganglia involvement, and with contrast enhancement on MRI (Type I). In some cases the initial presentation can be of febrile status, which with the MRI features could be confused with acute disseminated encephalomyelitis (ADEM). Individuals may also present in older childhood, adolescence, or adulthood, often with a predominant posterior fossa or brainstem presentation (Type II). When brainstem contrast enhancement is seen, this disorder could be confused with multiple sclerosis or a brainstem glioma. In this chapter, two cases of typical presentation of Type II AxD are described followed by a discussion of the genetics, pathophysiology, clinical spectrum, and current management options of this disorder. Imaging features of several cases are used to illustrate variations in the clinical presentation across the lifespan.

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Suggested Reading

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Author information

Authors and Affiliations

  1. Department of Neurology, Children’s National Medical Center, 111 Michigan Avenue, NW, Washington, DC, 20010, USA

    Parisa Sabetrasekh M.D.

  2. Division of Child Neurology, Department of Pediatrics, Children’s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA

    Gulay Alper M.D.

  3. Children Hospital of Pennsylvania, Philadelphia, PA, 19104, USA

    Adeline Vanderver M.D.

Authors
  1. Parisa Sabetrasekh M.D.
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  2. Gulay Alper M.D.
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  3. Adeline Vanderver M.D.
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Corresponding author

Correspondence to Adeline Vanderver M.D. .

Editor information

Editors and Affiliations

  1. Clinical Neurology and Pediatrics, Regional Pediatric MS Clinic at UCSF, University of California San Francisco, San Francisco, California, USA

    Emmanuelle Waubant

  2. Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas, USA

    Timothy E. Lotze

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Sabetrasekh, P., Alper, G., Vanderver, A. (2017). Alexander Disease Type II. In: Waubant, E., Lotze, T. (eds) Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics. Springer, Cham. https://doi.org/10.1007/978-3-319-61407-6_17

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  • DOI: https://doi.org/10.1007/978-3-319-61407-6_17

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-61405-2

  • Online ISBN: 978-3-319-61407-6

  • eBook Packages: MedicineMedicine (R0)

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