Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.

BACKGROUND

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by pathogenic variants in TSC1 or TSC2, affecting approximately 1 in 6,000 live births. Diagnosis can be established genetically or clinically based on characteristic neurocutaneous, renal, and cardiac findings. Epilepsy occurs in up to 90% of individuals, with a wide spectrum of seizure types, including epileptic spasms and focal seizures, often evolving into Lennox–Gastaut syndrome.

METHODS

We describe two pediatric cases with genetically confirmed TSC who presented with prolonged, stereotyped episodes of retching and vomiting as the initial clinical manifestation. Brain MRI and long-term video-EEG monitoring were performed to investigate the neurological origin of these symptoms.

RESULTS

In one patient, video-EEG recordings demonstrated an ictal pattern temporally correlated with the vomiting episodes, confirming their epileptic nature. In the other, although no episodes were captured during monitoring, the interictal EEG revealed both synchronous and asynchronous epileptiform discharges in the bilateral frontal regions, supporting a possible epileptic basis. To our knowledge, these represent the first reported cases of ictal vomiting as the initial seizure manifestation in TSC.

CONCLUSIONS

These cases emphasize the need to consider recurrent, stereotyped gastrointestinal symptoms as potential ictal phenomena, particularly in individuals with TSC who are at high risk for epilepsy. Early and prolonged electroencephalographic monitoring may be crucial for timely recognition and appropriate management.