DELAYED DIAGNOSIS OF SEGAWA SYNDROME IN CHILDHOOD: A NARRATIVE REVIEW

Abstract

This article aimed to critically analyze the scientific literature on the delayed diagnosis of Segawa syndrome in childhood, a rare and potentially treatable neurological condition that remains underrecognized in pediatric clinical practice. This is a narrative literature review, conducted through searches in the PubMed/MEDLINE and SciELO databases, covering the period from January 1990 to December 2025, using English-language descriptors enclosed in quotation marks and combined with Boolean operators. Studies addressing clinical aspects, phenotypic variability, differential diagnoses, diagnostic errors, and the implications of delayed recognition of dopa-responsive dystonia in the pediatric population were included, totaling 16 studies selected for qualitative analysis. The results showed that delayed diagnosis is mainly related to the phenotypic variability of the syndrome and its frequent misdiagnosis as more prevalent conditions, such as cerebral palsy, functional dystonia, and motor developmental delay. The analyzed literature describes relevant clinical and psychosocial impacts associated with delayed diagnosis, despite the marked clinical response to levodopa treatment. It is concluded that early recognition of Segawa syndrome and the systematic use of the levodopa therapeutic trial may significantly improve functional prognosis in affected children, highlighting the need for greater clinical awareness and the development of screening and diagnostic reassessment strategies in pediatric practice.