Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Lubov Blumkin, Dorit Lev, Nathan Watemberg, Tally Lerman-Sagie*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

Hypomyelinating leukoencephalopathies are characterized by a substantial and permanent deficit in myelin deposition in the brain. Although our knowledge and understanding of the etiology of white matter diseases has progressively increased, many cases with this disorder remain undiagnosed, despite extensive evaluations. Recently, new disease entities have been defined by combining magnetic resonance imaging pattern recognition and clinical features. We describe a 1-year-old Ashkenazi Jewish girl with a hypomyelinating leukoencephalopathy, who presented in the neonatal period with episodes of sustained paroxysmal tonic upward gaze, roving eye movements, pendular nystagmus, and severe hypotonia, with the later appearance of pyramidal and extrapyramidal signs and no development. In addition, she has dysmorphic signs. This clinical picture is not consistent with any of the previously described hypomyelinating leukoencephalopathies and may represent a new entity.

Original languageEnglish
Pages (from-to)226-230
Number of pages5
JournalMovement Disorders
Volume22
Issue number2
DOIs
StatePublished - 15 Jan 2007

Keywords

  • Extra-pyramidal signs
  • Hypomyelinating leukoencephalopathy
  • Paroxysmal tonic upward eye deviation

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