الملخص
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.
بيانات النشر
- المعرّف الرقمي
- 10.18295/2075-0528.1606
- المجلة
- مجلة جامعة السلطان قابوس الطبية, 14(3), 397-400
- الناشر
- جامعة السلطان قابوس
- وصول مفتوح
- وصول مفتوح ذهبي
- الترخيص
- CC BY-ND 4.0
اقتبس هذه المقالة
APA 7
Al-Muslamani, A. M., Ali, F., & Fatima (2025). A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia. Sultan Qaboos University Medical Journal, 14(3), 397-400. https://doi.org/10.18295/2075-0528.1606
MLA 9
Al-Muslamani, Ahood M., et al. "A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia." Sultan Qaboos University Medical Journal, vol. 14, no. 3, 2025, pp. 397-400. https://doi.org/10.18295/2075-0528.1606.
شيكاغو (المؤلف–التاريخ)
Al-Muslamani, Ahood M., Fouad Ali, and Fatima. 2025. "A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia." Sultan Qaboos University Medical Journal 14 (3): 397-400. https://doi.org/10.18295/2075-0528.1606.
هارفارد
Al-Muslamani, A. M., Ali, F. and Fatima (2025) 'A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia', Sultan Qaboos University Medical Journal, 14(3), pp. 397-400. doi:10.18295/2075-0528.1606.
فانكوفر
Al-Muslamani AM, Ali F, Fatima. A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia. Sultan Qaboos University Medical Journal. 2025;14(3):397-400. doi:10.18295/2075-0528.1606
IEEE
A. M. Al-Muslamani, F. Ali, and Fatima, "A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia," Sultan Qaboos University Medical Journal, vol. 14, no. 3, pp. 397-400, 2025, doi: 10.18295/2075-0528.1606.