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Tuberous sclerosis complex and neonatal seizures
S P Miller1, T Tasch, M Sylvain
1Department of Neurology, Montreal Children's Hospital, McGill University, PQ, Canada.
Insights
Tuberous sclerosis complex (TSC) in newborns often presents with seizures, not typical signs. This highlights seizures as a key indicator for diagnosing TSC in neonates, even without other classic symptoms.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting multiple organ systems.
- While TSC is known to cause tumors and affect the brain and heart, its presentation in neonates is not well-documented.
- Neonatal seizures are rarely linked to TSC in existing literature.
Purpose of the Study:
- To describe the presentation of TSC in neonates.
- To highlight neonatal seizures as a significant, yet underrecognized, early sign of TSC.
- To discuss neuroimaging findings in neonates diagnosed with TSC.
Main Methods:
- Case report of two neonates diagnosed with TSC.
- Review of clinical presentation, focusing on seizures.
- Analysis of neuroimaging findings in the affected neonates.
Main Results:
- Both reported cases presented with neonatal seizures as the primary symptom.
- Traditional stigmata of TSC were absent or not prominent in the neonatal period.
- Neuroimaging revealed findings consistent with TSC in both infants.
Conclusions:
- Neonatal seizures should be considered a crucial presenting feature of Tuberous Sclerosis Complex.
- Early recognition of seizures in neonates can lead to timely TSC diagnosis, even without classic physical signs.
- This underscores the importance of considering TSC in the differential diagnosis of neonatal seizures.
Abstract:
Tuberous sclerosis complex is a multisystemic neurocutaneous disorder, manifesting variably during infancy and childhood that remains poorly described in neonates. When described in this population, tuberous sclerosis complex is most commonly associated with cardiac rhabdomyomas and brain tumors, but is rarely mentioned as an etiology for neonatal seizures. We report two children with tuberous sclerosis presenting for neonatal seizures. Neuroimaging findings of neonatal tuberous sclerosis complex are discussed. Given the absence of many of the traditional stigmata of tuberous sclerosis complex in the neonate, seizures should be considered an important presenting feature of this disorder in this particular age group.