Results 1 to 10 of about 3,363 (211)
Journal of the Belgian Society of Radiology, 2013 Hypothalamic hamartomas are rare congenital malformations presenting with central precocious puberty, gelastic epilepsy and developmental retardation. The disease manifests early in life and may occur in neonates. The prevalence is estimated as high as 1
L Topff, G Gelin
doaj +7 more sources
Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3 [PDF]
Frontiers in Surgery, 2021 Background: GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in GLI3 cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is
Yue Yang +14 more
doaj +2 more sources
Adult-onset hypothalamic hamartoma: origin of epilepsy? [PDF]
Acta Epileptologica, 2023 Background Hypothalamic hamartoma (HH) is a congenital non-progressive lesion of hypothalamus during fetal development. Mass-like lesions in different anatomical locations often develop a variously disabling course presenting with cognitive decline ...
Wenjie Han +7 more
doaj +2 more sources
Neurology, 2021 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.
Cohen, Nathan T. +13 more
core +7 more sources
An Undiagnosed Case of Hypothalamic Hamartoma with a Rare Presentation. [PDF]
Case Rep Med, 2017 Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation.
Badihian S +10 more
europepmc +6 more sources
A case of pure gelastic seizures due to hypothalamic hamartoma with a benign course [PDF]
Epilepsy and Behavior Case Reports, 2017 Hypothalamic hamartoma is a potentially complex entity with diverse clinical manifestations. We report a case of gelastic seizures associated with a hypothalamic hamartoma, which followed a benign course. A 31-year-old woman with episodes of laughter was
T.D. Gosavi, M.C. Walker
doaj +2 more sources
Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma [PDF]
Radiology Case Reports, 2020 Hypothalamic hamartomas are rare tumors that are most often diagnosed in early childhood. These lesions are classified as giant hypothalamic hamartomas when they exceed 4 cm in any 1 dimension.
Alberto Cristobal, BS +4 more
doaj +2 more sources
Attention Deficit Hyperactivity Disorder following Hypothalamic Hamartoma Surgery : An unusual manifestation [PDF]
European Psychiatry, 2022 Introduction Psychiatric symptoms are a common comorbid feature of hypothalamic hamartoma(HH) with epilepsy. They are a significant challenge for patient and their families. Most common psychiatric symptoms are externalizing behaviors such as aggression
A. Khivsara, D. Goya, N. Nebhinani
doaj +2 more sources
Inappropriate Laughter in a Patient with Hypothalamic Hamartoma [PDF]
Sultan Qaboos University Medical Journal, 2020 MEDICAL ...
Faris Al Kalbani +3 more
doaj +2 more sources
Electrophysiological properties and seizure networks in hypothalamic hamartoma [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective Little is known about the intrinsic electrophysiological properties of hypothalamic hamartoma (HH) in vivo and seizure network since only few cases using stereoelectroencephalography (SEEG) electrodes exploring both cortex and HH have been ...
Di Wang +16 more
doaj +2 more sources