Hypothalamic Hamartomas
Nathan T. Cohen, J. Helen Cross, Alexis Arzimanoglou, Samuel F. Berkovic, John Kerrigan, Ilene Miller, Erica Webster, Lisa Soeby, Arthur Cukiert, Dale K. Hesdorffer, Barbara L. Kroner, Clifford B. Saper, Andreas Schulze‐Bonhage, William D. Gaillard, on behalf of the Hypothalamic Hamartoma Writing Group, Samuel F. Berkovic, Madison M. Berl, Leslie G. Biesecker, Varina L. Boerwinkle, Carrin Brandt, Christine Bulteau, Xi Chen, Nathan T. Cohen, J. Helen Cross, Arthur Cukiert, Daniel J. Curry, Penny A. Dacks, Luca De Palma, Sarah Ferrand‐Sorbets, John B. Fulton, William D. Gaillard, Maximilian J. Geiger, Zachary M. Grinspan, Ajay Gupta, Hussein Hamdi, Jason S. Hauptman, Michael S. Hildebrand, Julia Jacobs, John Kerrigan, Kerstin Alexandra Klotz, Sookyong Koh, Holan Liang, Gary W. Mathern, Juma Mbwana, Ian Miller, Ilene Penn Miller, Emma Not, Oliver Oatman, Chima Oluigbo, Roger J. Packer, John Ragheb, Jean Régis, Harold L. Rekate, Tamer Rizk, Jeffrey V. Rosenfeld, Christian L. Roth, Jay A. Salpekar, Clifford B. Saper, Andreas Schulze-Bonhage, Hiroshi Shirozu, Lisa Soeby, Christina Tatsi, William H. Theodore, Gilbert Vézina, Erica Webster, Peter J. West, Zhiquan Yang, Kevin C.J. Yuen
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 <i>GLI3</i> 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.