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

Clinical profiles of infants hospitalized with acute respiratory yncial virus bronchiolitis in Bahrain

Assessment of patients with acute bronchiolitis is important for the practicing pediatricians, to determine the best management especially in view of the recent advances in this regard. Studying the clinical characteristics of hospitalized infants and young children with acute respiratory syncial virus [RSV] in Bahrain and highlighting the current management of such patients in order to revise and improve the standard of care to our affected patients Reviewing- retrospectively- the records of all RSV positive bronchiolitis patients admitted to Salmanyia Medical Complex [SMC] in the period of January 2000 to August 2003. Data included clinical profiles and the management, especially the use of nebulized bronchodilators, systemic steroids and antibiotics. Out of 235 tests done in the period of Jan 2000-August 2003, 88[37%] tested positive of which. 58 patients [66%] were admitted to SMC and are the focus of this study. 60% were males and 40% females Their age ranged from 0-24 months, 83.8% were between 0-6 months. Sepsis was documented in one patient only. Of those who had chest X-ray 50% had hyperinflation while pneumonic infiltration was found in 52.6%. The length of stay in hospital ranged between 5 and 8 days. Six patients [10%] required intensive care and intubation. Nebulized bronchodilators were used in 75.9% while systemic steroids and antibiotics were used in 37.9% and 66.4% respectively. For our infants with acute RSV bronchiolitis, we need to individualize collecting blood cultures, starting antibiotics and when to use nebulized bronchodilators and systemic steroids. A practical guideline is needed for better management of our patients, based on the best evidence, experience and the available resources.