January 31, 2018

Diagnosing Tuberous Sclerosis Complex Before Seizure Onset

Results from a study recently published in the Orphanet Journal of Rare Diseases confirms the idea that tuberous sclerosis complex (TSC) can be diagnosed before seizure onset.

Monika Slowinska M.D. of the Department of Neurology and Epileptology at The Children’s Memorial Health Institute, Warsaw, Poland and her team of researchers performed a retrospective review of children who were suspected of having TSC due to single or multiple cardiac tumors as the initial presentation of the disease, born between 1990 and 2016. The medical records, in terms of conducted clinical tests and TSC symptoms – which were observed until the 4th month of age – were analyzed throughout the study.

TSC is characterized by the uncontrolled growth of benign tumors in multiple organs, including the brain, kidneys, heart, lungs, eyes, and skin. While symptoms vary from patient to patient, seizures are the most common among the population. The study’s purpose was to define the most useful approach to make a TSC diagnosis before seizure onset (before the age of 4 months), so that early Electroencephalography (EEG) monitoring with possible preventative treatment intervention could be conducted.

In the analysis, 100 children were identified, 82 of whom were diagnosed with TSC within the first 4 months of life.

Results of the study showed that early diagnosis of TSC, before clinical seizure onset, is possible. In 82% of patients evaluated, the diagnosis was established before the end of the 16th week of life, which is regarded as the typical time of clinical seizure onset. Clinical seizures are preceded by EEG abnormalities; thus, regular EEG surveillance and early implementation of antiepileptic treatment is clinically beneficial for developmental outcome and seizure control.