Laura I. Rudaks

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Pontine tegmental cap dysplasia is a rare neurologic condition first described by Barth et al. in 2007. It is characterized by a vaulted pontine tegmentum projecting into the fourth ventricle and ventral pontine hypoplasia. Patients present with developmental delay, cerebellar and pyramidal abnormalities, cranial nerve dysfunction, and various extracranial(More)
Pontocerebellar hypoplasia exhibits a diverse range of etiologies, including six known autosomal recessive, single gene disorders. We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death. The patient(More)
Hypertrophic cardiomyopathy (HCM) is a rare presenting feature of congenital disorder of glycosylation type Ia (CDG-Ia). We report two female siblings with CDG-Ia and cardiomyopathy. Patient no. 1 died at 12 days of age from cardiac rupture and tamponade, which has not previously been reported in CDG-Ia. The second patient died at 2 months of age from HCM.(More)
BACKGROUND A peripheral intravenous device (PIVD) provides venous access for the administration of medications, blood products and fluids. They can be associated with a risk of infection and other complications, which have prompted the development of evidence-based guidelines for their use at the Royal Adelaide Hospital (RAH). A previous audit performed at(More)
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