Hypothalamic Hamartomas: Evolving Understanding and Management. (2nd November 2021)

• Record Type: Journal Article
• Authors: Cohen, Nathan T.; Cross, J. Helen; Arzimanoglou, Alexis; Berkovic, Samuel F.; Kerrigan, John F.; Miller, Ilene Penn; Webster, Erica; Soeby, Lisa; Cukiert, Arthur; Hesdorffer, Dale K.; Kroner, Barbara L.; Saper, Clifford B.; Schulze-Bonhage, Andreas; Gaillard, William D.
• Other Names: author non-byline.; Berkovic Samuel Frank author non-byline.; Berl Madison author non-byline.; Biesecker Leslie G. author non-byline.; Boerwinkle Varina L. author non-byline.; Brandt Carrin author non-byline.; Bulteau Christine author non-byline.; Chen Xi author non-byline.; Cohen Nathan T. author non-byline.; Cross J. Helen author non-byline.; Cukiert Arthur author non-byline.; Curry Daniel J. author non-byline.; Dacks Penny author non-byline.; De Palma Luca author non-byline.; Ferrand-Sorbets Sarah author non-byline.; Fulton John B. author non-byline.; Gaillard William Davis author non-byline.; Geiger Maximilian J. author non-byline.; Grinspan Zachary author non-byline.; Gupta Ajay author non-byline.; Hamdi Hussein M. author non-byline.; Hauptman Jason author non-byline.; Hildebrand Michael S. author non-byline.; Jacobs Julia author non-byline.; Kerrigan John (Jack) F. author non-byline.; Klotz Kerstin Alexandra author non-byline.; Koh Sookyong author non-byline.; Liang HoLan author non-byline.; Mathern Gary W. author non-byline.; Mbwana Juma author non-byline.; Miller Ian author non-byline.; Miller Ilene Penn author non-byline.; Not Emma author non-byline.; Oatman Oliver J. author non-byline.; Oluigbo Chima author non-byline.; Packer Roger J. author non-byline.; Ragheb John author non-byline.; Régis Jean author non-byline.; Rekate Harold author non-byline.; Rizk Tamer author non-byline.; Rosenfeld Jeffrey V. author non-byline.; Roth Christian L. author non-byline.; Salpekar Jay A. author non-byline.; Saper Clifford B. author non-byline.; Schulze-Bonhage Andreas author non-byline.; Shirozu Hiroshi author non-byline.; Soeby Lisa author non-byline.; Tatsi Christina author non-byline.; Theodore William H. author non-byline.; Vezina Gilbert author non-byline.; Webster Erica author non-byline.; West Peter J. author non-byline.; Yang Zhiquan author non-byline.; Yuen Kevin C. J. author non-byline.;
• Is Part Of: Neurology. Volume 97:Number 18(2021)
• Page Start: 864
• Page End: 873
• Publication Date: 2021-11-02
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000012773
• Languages: English
• ISSNs: 0028-3878

Abstract

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.