Sathiya S K Jayapal

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Brown-Vialetto-Van Laere syndrome (BVVLS) is a genetic condition caused by a mutation in the C20orf54 gene, which also codes for an intestinal riboflavin transporter. We report the case of a female who presented at 22 months with acute-onset stridor and generalized muscle weakness, in whom a genetic diagnosis of BVVLS was made, and whose symptoms improved(More)
SCENARIO You are a paediatric neurology registrar conducting a neurology clinic. You see a 12-year-old girl with frequent episodes of migraine. She has been prescribed propranolol and pizotefi n in the past, with no signifi cant benefi t. Recently, the frequency and severity of headaches have increased. The family wonders if she can be put on some other(More)
Umbilical vessel catheterisation is a common intervention in neonatal care. Many complications are recognised, some of which are life-threatening. We report the case of a term neonate who was compromised at birth following antepartum haemorrhage with evidence of multiorgan ischaemic injury. Following resuscitation and umbilical vessel catheterisation, she(More)
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