This case series examines three pediatric cases evaluated for suspected inborn errors of metabolism (IEM) and neurogenetic disorders at the Hospital da Criança in 2024. Presenting with intricate clinical features, each patient underwent thorough diagnostic workups that revealed both metabolic abnormalities and significant neurological changes on brain MRI.

By detailing these cases, the paper underscores the diagnostic hurdles associated with rare, complex conditions and highlights the vital need for a multidisciplinary clinical team. Ultimately, it stresses that early detection, timely intervention, and ongoing monitoring are essential to optimizing pediatric management and advancing the broader understanding of IEMs and neurogenetic diseases.

Mauricio Paiva is a PhD student at the University of São Paulo and an assistant physician in Clinical Genetics at Rede D’Or Hospitals in the city of São Paulo.