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

Dual thyroid ectopy in an old woman

Very few cases with dual thyroid ectopy and a normally located thyroid gland have been reported. A 65 years old woman presented with hemoptysis and mild dysphagia 5 years after thyroidectomy. On direct laryngoscopy a supraglotic mass was detected and removed; which on histopathology turned to be an ectopic thyroid tissue. On barium swallow lateral view of the neck demonstrated a mass between trachea and esophagus at C4-6 level. CT scan confirmed a high attenuation, mass posterior to trachea in sub-cricoid area. Suspecting another ectopic thyroid here, Technetium-99 scans were done, while on thyroxine and 4 weeks without it: earlier was inconclusive but the later confirmed another ectopic thyroid in thyroid bed on left side with a tail on right. The diagnosis was dual ectopic thyroid tissue in supraglottic area and the thyroid area [laterally and to the left] extending between trachea and esophagus at C4-6 level producing difficulty in breathing and mild dysphagia. This was a case of dual ectopic thyroid. It emphasizes that thyroid scan should be routinely performed in all thyroid cases and all the suspicious areas studied