A case series of infantile epileptic spasms syndrome: diagnosis, treatment choices and genetic landscape

• Infantile spasms remain an emergency diagnosis that requires immediate treatment. • Genetic evolution has improved diagnosis in many cases that were considered idiopathic. • Even genetic findings that have not been related to infantile spasms so far, have often been related to psychomotor delay and epilepsy. • Genetic testing should be widely accessible. We present a one‑year case series of nine patients diagnosed with Infantile Epileptic Spasms Syndrome (IESS) treated in our clinic. Nine (9) patients presenting with spasms underwent electroencephalogram (EEG) which confirmed the diagnosis of IESS in all cases. Their clinical presentation, EEG, MRI and genetic findings are reviewed. Hypsarrhythmia and spasms resolved in all patients. However developmental outcomes as psychomotor delay (4/9) and autism (3/9) and the progression to other types of epilepsy (6/9) remain under evaluation. Genetic and imaging findings are provided. IESS encompasses a spectrum of underlying aetiologies and continues to pose therapeutic challenges. While aggressive treatment is necessary in the acute phase, long-term psychomotor outcomes depend on aetiology and remain largely unpredictable. Genetic testing plays a key role in clarifying underlying causes and informing prognosis.