Epilepsy due to pyridoxine dependence: a case report

Abstract

Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests. The aim of this work was to report the case of an infant patient with epilepsy due to pyridoxine dependence, using the methods of analysis of clinical history data, physical examination, therapeutic response, with simultaneous laboratory investigation and image analysis. In the face of a Residência Pediátrica; 2023: Ahead of Print DOI: 10.25060/residpediatr-2023-600 Nota aos leitores: pode haver informações pendentes, por se tratar de um artigo em “visualização pré-publicação”. neonatal convulsive crisis immune to the instituted anticonvulsants and, with laboratory and imaging exams without changes, the introduction of pyridoxine brought clinical improvement, allowing the discontinuation of the other drugs in use. The reported case reinforces the importance of investigating neonatal seizures for the correct diagnosis and treatment.