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Progressive encephalopathy, hypsarrhythmia, oedema and optic atrophy (PEHO) has long been recognised as a rare clinically distinct syndrome of likely autosomal recessive genetic aetiology and devastating prognosis. Children who do not satisfy all essential criteria are deemed PEHO-like. Through national and international collaborations we studied a cohort of 27 children with PEHO and PEHO-like...
The diagnosis of mitochondrial disorders (MD) is complex and protracted, due to clinical and genetic heterogeneity, requiring collation of radiological, biochemical, histological and genetic investigations. Collaboration with mitochondrial expert neurologists, biochemists and geneticists in the UK helps to achieve the best diagnostic rates of MD. The aim of the study was to determine the clinical...
The literature on paediatric acute-onset movement disorders is scattered. In a prospective cohort of 52 children (21 male; age range 2mo-15y), the commonest were chorea, dystonia, tremor, myoclonus, and Parkinsonism in descending order of frequency. In this series of mainly previously well children with cryptogenic acute movement disorders, three groups were recognised: (1) Psychogenic disorders (n = 12),...
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