EAST syndrome: when the nephrologist calls the neurologist
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.
Authors
- Luíza Alves Corazza (ORCID: https://orcid.org/0000-0001-7866-7786)
- Pedro Henrique Almeida Fraiman (ORCID: https://orcid.org/0000-0002-5250-8602)
- Thiago Yoshinaga Tonholo Silva (ORCID: https://orcid.org/0000-0002-7185-8309)
- Breno Kazuo Massuyama (ORCID: https://orcid.org/0000-0002-7130-8593)
- Ivana Rocha Raslan (ORCID: https://orcid.org/0000-0001-8575-7747)
- Orlando Graziani Póvoas Barsottini (ORCID: https://orcid.org/0000-0002-0107-0831)
- Luane Abdalla Gouvea (ORCID: https://orcid.org/0000-0002-8194-8412)
- José Luiz Pedroso (ORCID: https://orcid.org/0000-0002-1672-8894)
Institutions
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Practical Neurology
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1136/pn-2025-004565
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00