Teaching Video NeuroImage: Improvement in Motor Development after Start of Levodopa in Tyrosine Hydroxylase Deficiency

Etienne Janssen*, Mayke Oosterloo, Estela Rubio-Gozalbo, Koen Van Gassen, Joost Nicolai

*Corresponding author for this work

Research output: Contribution to journalEditorialAcademicpeer-review

Abstract

A 7-month-old boy was referred with developmental delay and axial hypotonia (video 1). Screening for inborn errors of metabolism was negative and single nucleotide polymorphism array was normal (46,XY). Myotonic dystrophy (type 1) and spinal muscular atrophy were excluded. Whole exome sequencing yielded biallelic mutations in the tyrosine hydroxylase gene (c.698 G>A, p.Arg233His and c.1211C>T, p.Thr404Met). Subsequent CSF analysis revealed a significantly lowered homovanillic acid/5-hydroxyindoleacetic acid ratio, confirming tyrosine hydroxylase deficiency.1 Treatment with monotherapy levodopa resulted in profoundly improved motor development (video 1). After several weeks of treatment, the patient developed levodopa-induced dyskinesias (video 1),2 insomnia, and hyperactive behavior. All symptoms ameliorated with levodopa reduction.
Original languageEnglish
Pages (from-to)S14
Number of pages1
JournalNeurology
Volume100
Issue number16
DOIs
Publication statusPublished - 18 Apr 2023

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