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

Mariam Hull¹, Lisa Emrick², Roa Sadat², Mered Parnes³

Affiliations

¹ 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. Electronic address: mariam.hull@bcm.edu.
² 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.
³ 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.

PMID: 34920839
DOI: 10.1016/j.parkreldis.2021.04.020

Case Reports

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

Mariam Hull et al. Parkinsonism Relat Disord. 2021 Dec.

. 2021 Dec:93:111-113.

doi: 10.1016/j.parkreldis.2021.04.020. Epub 2021 Dec 14.

Authors

Mariam Hull¹, Lisa Emrick², Roa Sadat², Mered Parnes³

Affiliations

¹ 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. Electronic address: mariam.hull@bcm.edu.
² 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.
³ 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.

PMID: 34920839
DOI: 10.1016/j.parkreldis.2021.04.020

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: Developmental regression; Levodopa responsive; Tremor; Tyrosine hydroxylase deficiency.

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Comment in

A case of treatable encephalopathy, developmental regression, and proximal tremor: Expert commentary.
Kurian MA. Kurian MA. Parkinsonism Relat Disord. 2021 Dec;93:114-115. doi: 10.1016/j.parkreldis.2021.09.017. Epub 2021 Sep 24. Parkinsonism Relat Disord. 2021. PMID: 34593301 No abstract available.

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

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

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Abstract

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Medical