A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia
Journal Title: Sultan Qaboos University Medical Journal - Year 2014, Vol 14, Issue 3
Abstract
Tyrosine hydroxylase (TH) defciency is a rare autosomal recessive and often treatable neurometabolic disorder with variable phenotypes. More than 20 pathological mutations have been identifed in patients with TH defciency. 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. Te patient showed a remarkable response to treatment using combined levodopa-carbidopa. In this case, the orofacial dyskinaesia may be a specifc clinical association unique to this novel mutation, which is the frst to be described in Bahrain and the Middle East.
Authors and Affiliations
Ahood M. Al-Muslamani| Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain, Fouad Ali| Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain, Fatima Mahmood| Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain
Keywords
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