Rationale:
Hypothalamic hamartoma (HH) often presents with neurological and endocrinological symptoms, with Gelastic seizures being the hallmark, but other seizure semiology can be seen. Early seizure onset and varied ictal semiology complicate identifying candidates for epilepsy surgery in young children. Untreated, seizures may develop into larger epileptic networks potentially leading to epileptic encephalopathy like Lennox-Gastaut syndrome. Seizures from HH are usually resistant to medication and linked to cognitive and behavioral decline, with surgical treatment being most effective for seizure control.
Methods:
A comprehensive clinical evaluation and literature review was conducted, including a detailed medical history, physical examination, and neurological assessment. Imaging studies, specifically electroencephalogram (EEG) and magnetic resonance imaging (MRI) of the brain were performed to confirm the diagnosis.
Results:
A 2-year-old female who presented for movements concerning for seizures a year prior with a normal workup presented with altered breathing pattern and shaking. These events lasted approximately a minute and occurred multiple times throughout the day where she would run to an adult, stare at them, grab their legs and began hyperventilating, one event at school was associated with emesis. This would last a minute and occurred multiple times throughout the day. EEG showed one clinical seizure consisting of impaired awareness and emesis, and three electrographic seizures appearing to emanate from the right frontotemporal region. MRI head with and without contrast was completed and showed rounded/ovoid mass in hypothalamic region measuring about 13 x 13 x 12 mm with no significant associated enhancement. Neuroradiology felt the appearance was compatible with a hypothalamic hamartoma. She was started on levetiracetam 60mg/kg/day divided twice a day and referred to neurosurgery.
Conclusions:
This case adds to the few published studies of HH-related epilepsy that do not include laughter. The case highlights the importance of a board differential with pediatric epilepsy semiology and demonstrates the importance of further workup and imaging in pediatric patients with focal seizures.
Funding: none