Abstract
Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50%–80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research.
Highlights
Hypothalamic hamartomas (HHs) are deep-seated developmental lesions that have varied manifestations
HHs are often small, suprasellar masses that can lead to devastating epileptic encephalopathy and comorbidity
HH presents in 2 ways: the intrahypothalamic variant presents with pharmacoresistant
Summary
Hypothalamic hamartomas (HHs) are deep-seated developmental lesions that have varied manifestations. This review is based on the 4th International Symposium on Hypothalamic Hamartomas, which took place September 12–14, 2019, in Washington, DC, and current concepts, experience, and research. The reader is provided a key clinical summary of HH as well as the most current recommendations for workup and diagnosis. We summarize current thinking regarding pathophysiology, genetic underpinnings, and broad comorbidities of the disease. The surgical management of HH is reviewed. Future research and clinical priorities are considered
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