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Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

Authors

  • Lubov Blumkin MD,

    1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    2. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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  • Dorit Lev MD,

    1. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    2. Medical Genetics Institute, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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  • Nathan Watemberg MD,

    1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    2. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
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  • Tally Lerman-Sagie MD

    Corresponding author
    1. Pediatric Neurology Unit, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    2. Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel
    • Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel 58100
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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. © 2006 Movement Disorder Society

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