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

X-linked adrenoleukodystrophy: a novel mutation of abcd1 gene in a bahraini boy

Adrenoleukodystrophy [ALD] is an X-Linked recessive neurodegenerative disease that affects the brain and the adrenal glands. It presents with a wide spectrum of clinical variants. The severe childhood cerebral form of ALD is a known cause of severe disability in children that leads to early death. ABCD1 is the only gene associated with X-linked ALD. More than 1400 different mutations have been identified in the ABCD1 gene. We present a case of X-linked ALD with novel mutation. Our patient was a boy who presented with intermittent right eye exotropia, poor attention span and subsequent deterioration in hearing, vision, speech and swallowing. He had dramatic worsening of his neurological symptoms over few months. His investigations showed high serum very long chain fatty acids [VLCFA] with extensive demyelination involving bilateral parieto-occipital regions on brain MRI. His mother had an extended family history of ALD in five of her brothers with variable phenotypes ranging from the severe childhood cerebral form to the milder variant of ALD. Genetic testing revealed novel missense mutation in exon 6 of the ABCD1 gene with hemizygous ABCDl:c.l585G>T variant. The same mutation was detected in his younger asymptomatic brother. The aim of this case report is to present a familial case of childhood onset cerebral X-linked ALD with novel gene mutation in exon 6 of the ABCD1 gene

Allantoic cyst and patent urachus.

Allantoic cysts of the umbilical cord are extremely rare anomalies. Only few cases have been reported in the postnatal life. The etiopathogenesis is still obscure. We describe a case of allantoic cyst and patent urachus in a newborn associated with hypospadias and meatal obstruction. We also present the review of literature regarding this entity, embryology and etiopathogenesis.