TY - JOUR
T1 - Teaching Video NeuroImage
T2 - Improvement in Motor Development after Start of Levodopa in Tyrosine Hydroxylase Deficiency
AU - Janssen, Etienne
AU - Oosterloo, Mayke
AU - Rubio-Gozalbo, Estela
AU - Van Gassen, Koen
AU - Nicolai, Joost
N1 - Publisher Copyright:
© American Academy of Neurology.
PY - 2023/4/18
Y1 - 2023/4/18
N2 - 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.
AB - 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.
U2 - 10.1212/WNL.0000000000206908
DO - 10.1212/WNL.0000000000206908
M3 - Editorial
SN - 0028-3878
VL - 100
SP - S14
JO - Neurology
JF - Neurology
IS - 16
ER -