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Updated: Oct 18, 2025

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
Published on: April 12, 2024
Hypothalamic Hamartomas: Evolving Understanding and Management
Nathan T Cohen1, J Helen Cross2, Alexis Arzimanoglou2
1From the Center for Neuroscience Research (N.T.C., W.D.G.), Children's National Hospital, The George Washington University School of Medicine, Washington, DC; UCL NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Member of ERN-EpiCARE, London; Great Ormond Street Hospital for Children (J.H.C.), NHS Trust, London; Young Epilepsy (J.H.C.), Lingfield, Surrey, UK; Department of Pediatric Clinical Epileptology (A.A.), Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME (A.A.), Hospices Civils de Lyon, France; Epilepsy Research Unit (A.A.), Barcelona's Children Hospital San Juan de Dios, Member of the ERN EpiCARE, Spain; Epilepsy Research Centre (S.F.B.), University of Melbourne, Australia; Division of Pediatric Neurology (J.F.K.), Barrow Neurological Institute at Phoenix Children's Hospital; Hope for Hypothalamic Hamartomas (I.P.M., E.W., L.S.), Phoenix, AZ; Epilepsy Surgery Program (A.C.), Clinica de Epilepsia de Sao Paulo, Brazil; Department of Epidemiology (D.K.H.), Columbia University Medical Center, New York, NY; RTI International (B.L.K.), Rockville, MD; Department of Neurology (C.B.S.), Beth-Israel Deaconess Medical Center, Harvard Medical School, Boston, MA; and Epilepsy Center (A.S.-B.), Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Germany. ncohen@childrensnational.org.
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.
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