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Infantile-Onset Leukoencephalopathy with Swelling and a Discrepantly Mild Clinical Course

  • Marjo S. van der Knaap
  • Jacob Valk

Abstract

Recently, an as yet unidentified disease, characterized by cerebral leukoencephalopathy and megalencephaly with infantile onset, was discovered (Van der Knaap et al. 1993, 1994a,b,c, 1995a,b). Considering the high rate of consanguinity among the parents and the presence of two affected sibs in one family, an autosomal recessive mode of inheritance can be assumed.

Keywords

White Matter Muscular Dystrophy Internal Capsule Alexander Disease Infantile Onset 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Harbord MG, Harden A, Harding B, Brett EM, Baraitser M (1990) Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings. Neuropediatrics 21: 164–168PubMedCrossRefGoogle Scholar
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  6. Van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WFM, Hoogenraad F, Valk J (1995a) Leukoencephalopathy with swelling and a discrepantly mild clinical course in 8 children. Ann Neurol (in press)Google Scholar
  7. Van der Knaap MS, Valk J, Barth PG, Smit LME, Van Engelen BGM, Tortori Donati P (1995b) Leukoencephalopathy with swelling in children and adults. Magnetic resonance imaging patterns and differential diagnosis. Neuroradiology (to be published )Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Marjo S. van der Knaap
    • 1
  • Jacob Valk
    • 2
  1. 1.Department of Child NeurologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Diagnostic RadiologyFree University HospitalAmsterdamThe Netherlands

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