Year: 2025
Type: article
Study design: Case Report
Abstract: Epileptic spasms associated with tuberous sclerosis complex (TSC) are associated with poor epileptic and cognitive prognosis [1,2]. Knowledge of prognostic factors makes it possible to improve its management. We report the clinical, electrical, renal ultrasound, brain MRI and neurocognitive profile of this drug-resistant epilepsy. During the 5-year study period, five patients were diagnosed with TSBdue to the association of epilepsy with Infantile Epileptic Spasm Syndrome (IESS), achromic spots, cortical tubes and renal cysts in all patients. The clinical symptoms of seizures with types of epileptic spasms, associated with partial or generalized seizures and the EEG: atypical hypsarrhythmia or focus of spikes and slow waves localized to lesional foci of the tubers. Brain MRI shows cortical tubes with subependymal nodules. Two out of five patients, late onset of epilepsy at 18 and 2 years old, had good electro-clinical control of epilepsy with a better cognitive and behavioral score. The others started their epilepsy before a year or unsuitable treatment of spasms. evolved into drug-resistant epilepsy, with a neuro-cognitive-behavioral deficit, an 8-year-old patient with drug-resistant epilepsy had a spectacular improvement under Rapamycin. Our conclusion is that early diagnosis and treatment, Rapamycin and Antenatal and neonatal diagnosis with antiepileptic drugs in front of a pathological EEG, could improve epilepsy and associated comorbidities.
Authors: Z. Benhacine, AR. Bouhdjila, B. Téniou
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4409622210