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

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 tyr...

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Bibliographic Details
Published in:Parkinsonism & related disorders 2021-12, Vol.93, p.111-113
Main Authors: Hull, Mariam, Emrick, Lisa, Sadat, Roa, Parnes, Mered
Format: Article
Language:English
Subjects:
Brain Diseases - congenital
Brain Diseases - drug therapy
Developmental Disabilities - drug therapy
Developmental Disabilities - genetics
Developmental regression
Dystonic Disorders - complications
Dystonic Disorders - congenital
Dystonic Disorders - drug therapy
Humans
Infant
Levodopa - therapeutic use
Levodopa responsive
Male
Treatment Outcome
Tremor
Tremor - congenital
Tremor - drug therapy
Tyrosine hydroxylase deficiency
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Summary: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.
ISSN:1353-8020
1873-5126
DOI:10.1016/j.parkreldis.2021.04.020