Hypothalamic Hamartomas: A Narrative Review

Hypothalamic hamartomas (HH) are infrequent, non-neoplastic malformations of the hypothalamus with heterogeneous clinical features, with symptoms including gelastic seizures, central precocious puberty, and cognitive or behavioral deficits. This narrative review synthesizes current knowledge regarding the etiology, clinical manifestations, diagnostic advances, and therapeutic approaches for HH. Genetic insights highlight the role of postzygotic mosaicism and dysregulated Sonic Hedgehog signaling in HH development, emphasizing their relevance in potential therapeutic strategies. Diagnostic modalities such as MRI, PET, and SEEG are pivotal in identifying and characterizing HHs, enabling precise treatment planning. Therapeutic interventions span pharmacological, surgical, and neuromodulatory approaches. While surgical approaches, such as transcallosal resection or stereotactic radiosurgery, can offer considerable seizure control, newer modalities, such as laser interstitial laser thermal therapy (LITT) as well as stereotactic radiofrequency thermocoagulation, prioritize minimizing both cognitive and behavioral sequelae. The use of pharmacologic management and neuromodulation provides adjuvant benefits, specifically in drug-resistant epilepsy; despite progress, limitations still remain, including variability of outcomes and not enough long-term studies. This review underscores the need for multidisciplinary care and advanced research to optimize outcomes and improve the quality of life for patients with HH.