title: A new tyrosine hydroxylase genotype with orofacial dyskinaesia.
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.
authors.affiliation: Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain.
authors.forename: Ahood M
authors.initials: AM
authors.lastname: Al-Muslamani
authors.affiliation: Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain.
authors.forename: Fouad
authors.initials: F
authors.lastname: Ali
authors.affiliation: Department of Clinical Neurosciences, Salmaniya Medical Complex, Manama, Bahrain.
authors.forename: Fatima
authors.initials: F
authors.lastname: Mahmood
keywords: Bahrain; Case Report; Dopa-Responsive Dystonia; Tyrosine Hydroxylase
references.citation: Adv Neurol. 2004;94:127-38
references.pmid: 14509665
references.citation: Brain. 2007 Mar;130(Pt 3):828-35
references.pmid: 17282997
references.citation: Ann Neurol. 2007 Oct;62(4):422-6
references.pmid: 17696123
references.citation: Mov Disord. 2002 Mar;17(2):354-9
references.pmid: 11921123
references.citation: Hum Mol Genet. 1996 Jul;5(7):1023-8
references.pmid: 8817341
references.citation: Mol Genet Metab. 2007 Nov;92(3):274-7
references.pmid: 17698383
references.citation: Sleep. 2010 Mar;33(3):307-14
references.pmid: 20337188
references.citation: Curr Neuropharmacol. 2013 Jan;11(1):30-40
references.pmid: 23814535
references.citation: Neurology. 2000 Dec 26;55(12):1926-8
references.pmid: 11134401
references.citation: Brain. 2010 Jun;133(Pt 6):1810-22
references.pmid: 20430833
references.citation: J Inherit Metab Dis. 2000 Dec;23(8):819-25
references.pmid: 11196107
references.citation: Brain. 2009 Jul;132(Pt 7):1753-63
references.pmid: 19491146
references.citation: J Inherit Metab Dis. 1999 Jun;22(4):364-73
references.pmid: 10407773
references.citation: Adv Neurol. 2003;91:401-10
references.pmid: 12442699
references.citation: Neurology. 2001 Jan 23;56(2):260-3
references.pmid: 11160968
references.citation: Rev Neurol (Paris). 1971 Feb;124(2):162-6
references.pmid: 5564861
references.citation: Ann Neurol. 2003;54 Suppl 6:S56-65
references.pmid: 12891655