A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia

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.