Abstract
Tyrosine hydroxylase (TH) deficiency is a rare autosomal recessive and often treatable neurometabolic disorder with variable phenotypes. More than 20 pathological mutations have been identified in patients with TH deficiency. We report the case of a 10-month-old male patient who presented with developmental delay, hypotonia and oculogyric crises to the Salmaniya Medical Complex in Manama, Bahrain. At a later stage, he developed orofacial dyskinaesia and tremors with hyper-reflexia and clonus. A magnetic resonance imaging scan of the brain showed mild atrophy with widened ventricles and genetic testing revealed a novel homozygous mutation (c.938G>T; p.Arg313Leu) in exon 9 of the TH gene. The patient showed a remarkable response to treatment using combined levodopa-carbidopa. In this case, the orofacial dyskinaesia may be a specific clinical association unique to this novel mutation, which is the first to be described in Bahrain and the Middle East.
Publication Date
7-24-2014
First Page
397
Last Page
400
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Recommended Citation
Al-Muslamani, Ahood M.; Ali, Fouad; and Mahmood, Fatima
(2014)
"A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia,"
Sultan Qaboos University Medical Journal: Vol. 14: 397-400.
DOI: https://doi.org/10.18295/2075-0528.1606
