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Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive(More)
BACKGROUND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leuco-encephalopathy (CADASIL) is a hereditary autosomal dominant non-atherosclerotic non-amyloid cerebral arteriopathy. The disease was identified in 1993. We are not aware of reports in the literature of its occurrence in South Africa, and we present the clinical and(More)
A retrospective study of the newborns who were submitted to mechanical ventilation at the Neonatal Intermediate Care Unit was made between July 1991 and June 1994. Mechanical ventilation in such a unit should be transitory and not exceed 24 hours. Information concerning pregnancy, labour, neonates, type of ventilation and its problems was gathered. Forty(More)
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