تقرير
نمط جيني جديد للتيروسين هيدروكسيليز مع خلل حركي فموي وجهي = A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia

Al Muslamani, Ahood M.


 

نمط جيني جديد للتيروسين هيدروكسيليز مع خلل حركي فموي وجهي = A New Tyrosine Hydroxylase Genotype with Orofacial Dyskinaesia

Al Muslamani, Ahood M.

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.

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 dev...

مادة فرعية

المؤلف : Al Muslamani, Ahood M.

مؤلف مشارك : Fouad Ali
Fatima Mahmood

بيانات النشر : Muscat، Sultanate of Oman : Sultan Qaboos University / College of Medicine and Health Sciences، 2014مـ.

التصنيف الموضوعي : العلوم التطبيقية|العلوم الطبية .

المواضيع : Neurometabolic disorders .

الأمراض الاستقلابية العصبية .

Tyrosine hydroxylase .

رقم الطبعة : 3

المصدر : Sultan Qaboos University / College of Medicine and Health Sciences : Muscat، Sulatante of Oman.

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