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EAST syndrome: when the nephrologist calls the neurologist
Pedro Fraiman1, Thiago Yoshinaga Tonholo Silva1, Breno Kazuo Massuyama1
1Division of General Neurology and Ataxia Unit, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
Abstract:
A 32-year-old woman had experienced recurrent seizures since infancy, with progressive ataxia, dystonia, and electrolyte disturbances, suggesting a possible genetic tubulopathy with neurological manifestations. The complexity of her presentation highlights the importance of a multidisciplinary approach and the role of genetic investigations in uncovering rare conditions that bridge neurology and nephrology.
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