Movement Disorders in PURA Syndrome: A Video Case Series.
Ana C S CrippaEli Paula BacheladenskiDanielle C B RodriguesLetícia Pugim FerreiraAlex Tiburtino MeiraGustavo Leite FranklinPublished in: Movement disorders clinical practice (2023)
PURA syndrome may be considered in the differential diagnosis of infants with severe hypotonia, feeding difficulties and severe developmental delay with epileptic seizures, that start to develop a mixed hyperkinetic movement disorder. These complex movements may be an important clue for the diagnosis of this rare disorder.
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