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A case of treatable encephalopathy, developmental regression, and proximal tremor

  • Mariam Hull
    Correspondence
    Corresponding author. Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital and Baylor College of Medicine, 6701 Fannin, Suite 1250, Houston, TX, 77030, USA.
    Affiliations
    Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA
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  • Lisa Emrick
    Affiliations
    Pediatric Neurogenetics Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
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  • Roa Sadat
    Affiliations
    Pediatric Neurogenetics Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
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  • Mered Parnes
    Affiliations
    Pediatric Movement Disorders Clinic, Blue Bird Circle Clinic for Pediatric Neurology, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA
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      Abstract

      Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, proximal tremor, and encephalopathy found to have tyrosine hydroxylase deficiency in whom treatment resulted in acquisition of developmental milestones.

      Keywords

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