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

Mariam Hull; Lisa Emrick; Roa Sadat; Mered Parnes

doi:10.1016/j.parkreldis.2021.04.020

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

Parkinsonism Relat Disord. 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.

Publication types

Case Reports
Video-Audio Media

MeSH terms

Brain Diseases / congenital
Brain Diseases / drug therapy*
Developmental Disabilities / drug therapy*
Developmental Disabilities / genetics
Dystonic Disorders / complications
Dystonic Disorders / congenital*
Dystonic Disorders / drug therapy
Humans
Infant
Levodopa / therapeutic use
Male
Treatment Outcome
Tremor / congenital
Tremor / drug therapy*

Substances

Levodopa

Supplementary concepts

Segawa syndrome, autosomal recessive