Fourth ventricular hamartoma presenting with epileptic spasms: case-based review and surgical considerations

Fourth ventricular hamartomas (FVHs) are extremely rare lesions, and their association with refractory epilepsy is often underrecognized. We present a pediatric case of cerebellar-origin epilepsy with complete seizure remission after surgical resection, followed by a literature-based discussion of diagnostic and therapeutic considerations.

We describe a 9-year-old female with drug-resistant epilepsy since infancy. She was diagnosed with a fourth ventricular roof hamartoma (FVRH), and after two previous surgeries with no improvement, a third procedure at our institution achieved total resection. The patient has remained seizure-free for 2 years, with significant cognitive and behavioral improvement.

FVHs may present with focal motor seizures, myoclonus, hemifacial spasms, or neurodevelopmental delay. Diagnosis requires integration of MRI findings, functional imaging (SPECT/PET), and EEG-though these often yield nonspecific results. These lesions are typically resistant to pharmacologic therapy, and surgical resection is associated with high seizure control rates. Emerging minimally invasive techniques, such as laser interstitial thermal therapy (LITT), show promise. Importantly, roof FVHs differ from floor (tegmental) hamartomas in their anatomical origin, clinical presentation, and surgical approach-the latter often being associated with hypothalamic or brainstem symptoms, while roof lesions more commonly manifest with cerebellar-related epileptogenic activity.

Early recognition of FVRHs as potential epileptogenic foci and timely surgical intervention can lead to seizure freedom and favorable neurodevelopmental outcomes. This case reinforces the role of cerebellar lesions in pediatric epilepsy and supports aggressive surgical management when feasible.