A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology

Abstract Aim To identify the aetiology of patients with infantile spasms and propose practical guidelines for diagnostic strategies. Method We performed a retrospective study of children with West syndrome. Prenatal and birth medical history, characteristics of epilepsy, psychomotor development, biological and genetic screening, and aetiology were reported. Brain MRI was performed at least once and was repeated after two years of age if no aetiology was identified. Results Eighty children were included. Aetiology was identified in 40 children: 17 with acquired cause (seven with stroke and six with hypoxic-ischaemic encephalopathy) and 23 with developmental pathology (seven with tuberous sclerosis, eight with cerebral malformations, and eight with various genetic abnormalities). The yield of brain imaging was high, providing a diagnosis for 32 patients. Two subtle brain lesions were detected only after two years of age, based on subsequent MRI. Genetic testing provided a diagnosis for the remaining eight patients. Interpretation Although this is a retrospective study, the results provide a basis to review the aetiology of infantile spasms and confirm the role of cerebral MRI in first-line diagnosis. Cases with a genetic aetiology have been diagnosed with increasing frequency due to better diagnostic capabilities. We propose guidelines for a practical diagnostic approach and discuss the relevant use of genetics in the future.