Implementing Society Guidelines in Clinical Practice

This case study outlines the clinical journey of a 6-month-old female named Claire, who presented with developmental delay and seizures. Initially, Claire experienced frequent seizures starting at 5 months of age, leading to a referral to a pediatric neurologist. Initial testing, including an EEG, indicated multifocal epilepsy, while a brain MRI showed no abnormalities. Despite genetic testing through a narrow NGS seizure panel with approximately 300 genes, no significant findings were reported. Claire's family, seeking answers after more than a year of uncertainty, requested a referral to a geneticist. After a 4-month wait, whole exome sequencing was performed, which provided results in 6 weeks. The results identified pathogenic variants in NAPB, confirming a diagnosis of autosomal recessive early-onset epileptic encephalopathy. The case emphasizes the importance of a guideline-driven approach, suggesting that starting with exome sequencing could have significantly shortened the diagnostic process.