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Infantile spasms in tuberous sclerosis complex
P Curatolo1, S Seri, M Verdecchia
1Pediatric Neurology, Department of Neurosciences, Tor Vergata University, Rome, Italy. curatolo@uniroma2.it
Insights
Infantile spasms (IS) in tuberous sclerosis complex (TSC) differ from West syndrome, often starting as partial seizures. Early recognition of these distinct seizure patterns is crucial for better treatment and outcomes in TSC patients.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Epileptology
Background:
- Tuberous sclerosis complex (TSC) is frequently associated with infantile spasms (IS) and hypsarrhythmia.
- Infants with TSC exhibit distinct clinical and electroencephalogram (EEG) features compared to classical West syndrome.
- Subtle partial seizures may precede IS in the neonatal period for TSC patients.
Purpose of the Study:
- To differentiate seizure characteristics in infantile spasms (IS) associated with tuberous sclerosis complex (TSC) from classical West syndrome.
- To explore the origin, EEG patterns, and predictors of IS in TSC.
- To highlight the therapeutic and prognostic implications of early recognition of these distinctive features.
Main Methods:
- Utilized visual recording techniques for seizure classification in TSC.
- Analyzed awake interictal EEG for focal or multifocal spike and slow-wave activity.
- Examined ictal EEG patterns, including focal spikes and generalized slowing.
- Correlated seizure characteristics with cortical tuber count and localization.
Main Results:
- Seizures in TSC onset primarily manifest as partial motor seizures and IS, with focal or multifocal origins.
- EEG findings include focal/multifocal spikes and pseudo-hypsarrhythmia, with ictal EEG showing focal onset followed by generalization.
- Cortical tuber count predicts IS presence; seizure onset and EEG focus age depend on tuber location (parieto-occipital precedes frontal).
Conclusions:
- Infantile spasms in TSC have unique clinical and EEG characteristics, often originating focally and potentially generalizing.
- Early identification of these TSC-specific seizure patterns is vital for improved therapeutic strategies and prognosis.
- Advanced imaging techniques may offer new surgical candidate selection methods despite generally poor IS prognosis.
Abstract:
The high incidence of infantile spasms (IS) and hypsarrhythmia in tuberous sclerosis complex (TSC) has long been emphasized but it is now clear that infants with TSC show clinical and EEG differences from those with classical West syndrome. Seizures at onset are mainly characterized by partial motor seizures and IS. Subtle partial seizures may be present in the early neonatal period and may precede the onset of IS. Visual recording techniques have led to significant progress in the classification of seizures associated with TSC, demonstrating that they have a focal or multifocal origin in the vast majority of cases. In most cases, an awake interictal EEG shows focal or independent multifocal spike and slow-wave activity at onset and later a pseudo-hypsarrhythmic pattern. Ictal EEG starts with focal spikes originating from the posterotemporal, or occipital regions followed by a generalized irregular slow transient and an abrupt diffuse flattening. Although the pathophysiological mechanisms responsible for the coexistence of partial seizures and IS are still unclear, IS associated with TSC may be the result of a rapid secondary generalization. The presence of IS due to TSC is strongly predicted by the cortical tuber count, while the age of onset of seizures and the age of occurrence of EEG foci depend on the localization of cortical tubers with an earlier expression of the parieto-occipital than of the frontal regions. Early recognition of these distinctive features appears worthwhile for therapeutic and prognostic implications. Despite the efficacy of vigabatrin the prognosis of IS is generally poor. Studies using combined topographic mapping of EEG, magnetic resonance imaging and positron emission tomography may provide new strategies for selecting candidates suitable for surgery.