Hypothalamic hamartomas

Hamartomas that occur in the HYPOTHALAMUS. Hypothalamic hamartoma syndrome is a CONGENITAL DISORDER that results in various growth and neurologic abnormalities and is usually lethal within the first month after birth. Chromosomal abnormalities involving the GLI3 gene have been identified. OMIM: 241800

Also Known As:

Networked: 175 relevant articles (10 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Seizures (Absence Seizure)
2.	Epilepsy (Aura)
3.	Partial Epilepsies (Epilepsy, Partial)
4.	Periventricular Nodular Heterotopia
5.	Precocious Puberty

Experts

1.	Kerrigan, John F: 15 articles (01/2022 - 09/2005)
2.	Kameyama, Shigeki: 10 articles (01/2022 - 08/2007)
3.	Masuda, Hiroshi: 10 articles (01/2022 - 08/2007)
4.	Shirozu, Hiroshi: 8 articles (01/2022 - 05/2016)
5.	Wu, Jie: 7 articles (02/2015 - 09/2005)
6.	Rho, Jong M: 7 articles (05/2011 - 09/2005)
7.	Kim, Do Young: 5 articles (03/2011 - 09/2005)
8.	Ali, Irfan: 4 articles (01/2022 - 01/2018)
9.	Rekate, Harold L: 4 articles (01/2022 - 04/2005)
10.	Ito, Yosuke: 4 articles (01/2017 - 05/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hypothalamic hamartomas:

1.	Protons (Proton)IBA 04/01/2006 - "This study correlates the MR imaging and proton MR spectroscopic properties of hypothalamic hamartomas with histopathologic findings. " 03/01/2004 - "Proton MR spectroscopy of the hypothalamic hamartoma was performed for 19 patients and compared with the metabolite profile of the thalamus in 10 normal children and the frontal lobe in 10 normal adults. " 01/01/2002 - "Gelastic seizure with hypothalamic hamartoma: proton magnetic resonance spectrometry and ictal electroencephalographic findings in a 4-year-old girl." 10/01/1998 - "We used proton magnetic resonance spectroscopic imaging to quantify the amount of neuronal damage in the temporal lobes and hamartomas of patients with hypothalamic hamartomas and gelastic seizures. " 01/01/2002 - "Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. "
2.	CreatinineIBA 11/01/2018 - "We herein report a case of a boy with gouty arthritis, refractory hyperuricemia, prominent hypernatremia, a high creatinine concentration, and a history of surgery for a hypothalamic hamartoma. " 01/01/2002 - "Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. "
3.	Carbamazepine (Tegretol)FDA LinkGeneric 08/01/2014 - "These three cases confirm that gelastic epilepsy without hypothalamic hamartoma, both in cryptogenic or symptomatic patients (one child showed a dysplastic right parietotemporal lesion), usually has a more benign natural history, and carbamazepine seems to be the most efficacious therapy to obtain both immediate and long-term seizure control. " 05/13/2013 - "As in gelastic seizure without hypothalamic hamartoma, our case responded well to polytherapy with topiramate and carbamazepine on top of laugh-provocation avoidance. "
4.	N-acetylaspartate (N-acetyl aspartate)IBA 03/01/2004 - "Compared with normal gray matter, hypothalamic hamartomas were hyperintense on T2-weighted images (93%), hypointense on T1-weighted images (74%), and had reduced N-acetylaspartate and increased myoinositol content shown by MR spectroscopy. " 01/01/2002 - "Proton magnetic resonance spectrometry of the hypothalamic hamartoma revealed a significant reduction of the N-acetylaspartate/serum creatinine ratio. "
5.	Topiramate (Topamax)FDA LinkGeneric 05/13/2013 - "As in gelastic seizure without hypothalamic hamartoma, our case responded well to polytherapy with topiramate and carbamazepine on top of laugh-provocation avoidance. "
6.	Anticonvulsants (Antiepileptic Drugs)IBA 01/01/2017 - "Medical management and antiepileptic drugs in hypothalamic hamartoma." 01/01/2021 - "The third patient continued epileptic spasms despite multiple antiepileptic drugs and partial resection of hypothalamic hamartoma. " 04/01/2005 - "We present a 30-month-old boy with a hypothalamic hamartoma and a nearly 2-month history of near-continuous gelastic seizures, which we have labeled "status gelasticus." The seizures were refractory to multiple antiepileptic drugs (AEDs), and emergency transcallosal resection of the hypothalamic hamartoma was performed with resultant near-immediate cessation of the seizures. " 06/01/2004 - "The authors report the case of 5-month-old boy with a hypothalamic hamartoma and persistent gelastic seizures in spite of a wide combination of different antiepileptic drugs. " 07/01/1997 - "Hypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. "
7.	Glucose (Dextrose)FDA LinkGeneric 01/01/2020 - "Purpose: There are few studies on the glucose metabolic characteristics of the extra-hypothalamic cortex in the hypothalamic hamartomas (HH). " 12/01/2021 - "18F-FDG-PET glucose hypometabolism pattern in patients with epileptogenic hypothalamic hamartoma." 01/01/2017 - "We found regions of reduced glucose metabolism in cognitively impaired patients remote from the hypothalamic hamartomas in frontal and parietal regions, which have been identified as important network nodes in the human brain and are linked to higher cognitive functions." 01/01/2020 - "Glucose Metabolism Characteristics of Extra-Hypothalamic Cortex in Patients With Hypothalamic Hamartomas (HH) Undergoing Epilepsy Evaluation: A Retrospective Study of 16 Cases." 01/01/2017 - "We retrospectively investigated cerebral dysfunction as indicated by reduced regional glucose metabolism in 29 patients (age range 7-49 years) with epilepsy due to hypothalamic hamartomas. "
8.	Luteinizing Hormone (Lutropin)FDA LinkGeneric 01/06/1977 - "These studies suggest that hypothalamic hamartomas may cause precocious puberty by autonomous production and release of luteinizing-hormone-releasing factor into vessels that communicate with the pituitary portal blood system." 01/06/1977 - "Hypothalamic hamartoma: a source of luteinizing-hormone-releasing factor in precocious puberty."
9.	6-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA 10/01/2023 - "CPP may occur as genetic alterations, such as MKRN3, DLK1, or KISS1;as a part of mutations in the epigenetic factors that regulate the HPG axis, such as Lin28b and let-7; or as a part of syndromes, central lesions such as hypothalamic hamartoma, and others. " 01/01/2023 - "Hypothalamic hamartoma (HH) is the most well-known congenital cause of CPP with central nervous system abnormalities. " 01/01/2020 - "Among the 54 patients that had H-P lesions, we noted pathological findings related to CPP (hypothalamic hamartoma) in only one (0.4%) girl aged below 6 years old. " 12/01/2016 - "Hypothalamic hamartoma (HH) is the most common organic cause of CPP. " 01/01/2010 - "There were no endocrine disorders in any of the ten patients with hamartoma of the hypothalamus and CPP. "
10.	Gonadotropin-Releasing Hormone (GnRH)FDA Link 07/01/2001 - "In hypothalamic hamartomas, the prepubertal hiatus in the activity of the GnRH pulse generator was absent. " 03/01/1999 - "The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. " 09/01/1998 - "However, the increased LHRH-stimulated peak LH in the girls with hypothalamic hamartoma suggests subtle differences in neuroendocrine regulation that may underlie their more rapid pubertal maturation." 05/01/1995 - "MRI performed at the age of 9 years showed a small hypothalamic hamartoma and the LH-RH analogue was stopped at the age of 10 years. " 01/01/1995 - "To the best of our knowledge, this is the first hypothalamic hamartoma case in whom a decrease of tumour size under treatment with LH-RH analogue has been documented. "

Therapies and Procedures

1.	Electrocoagulation (Electrocautery) 09/01/2009 - "To validate the safety and efficacy of magnetic resonance imaging (MRI)-guided stereotactic radiofrequency thermocoagulation (SRT) for epileptogenic hypothalamic hamartoma (HH), we evaluated surgical outcomes and revised the MRI classification. " 03/01/2021 - "This study investigated the role of one-stage stereo-array radiofrequency thermocoagulation based on stereotactic electroencephalography in the treatment of pediatric hypothalamic hamartomas. " 04/17/2020 - "In this study, the authors compared the efficacy and safety of stereotactic radiofrequency thermocoagulation (SRT) and resective surgery (RS) for patients with hypothalamic hamartoma (HH). " 10/01/2016 - "OBJECTIVE The authors undertook this study to validate the feasibility and safety of stereotactic radiofrequency thermocoagulation (SRT) for the surgical treatment of giant hypothalamic hamartoma (HH). " 05/01/2016 - "OBJECT The aim of this study was to elucidate the invasiveness, effectiveness, and feasibility of MRI-guided stereotactic radiofrequency thermocoagulation (SRT) for hypothalamic hamartoma (HH). "
2.	Therapeutics 01/01/2022 - "Microsurgical Management of Complex Hypothalamic Hamartomas in the Era of Minimally Invasive Therapy: A Case Series and Narrative Review." 06/15/2023 - "Correlating Thermodynamics with Cognitive Outcomes in Magnetic Resonance-guided Laser Interstitial Thermal Therapy (MRgLITT) of a Pediatric Hypothalamic Hamartoma." 06/01/2023 - "Non-robotized frameless stereotactic magnetic resonance guided laser interstitial thermal therapy for hypothalamic hamartoma." 01/01/2023 - "After the authors' initial experience with real-time MRI-guided laser interstitial thermal therapy (MRIgLITT) for hypothalamic hamartomas, they decided to use this technique instead of open surgery to complete disconnective surgeries. " 11/06/2022 - "Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Surgical Approach and Treatment Outcomes."
3.	Lasers (Laser) 06/15/2023 - "Correlating Thermodynamics with Cognitive Outcomes in Magnetic Resonance-guided Laser Interstitial Thermal Therapy (MRgLITT) of a Pediatric Hypothalamic Hamartoma." 06/01/2023 - "Non-robotized frameless stereotactic magnetic resonance guided laser interstitial thermal therapy for hypothalamic hamartoma." 01/01/2023 - "After the authors' initial experience with real-time MRI-guided laser interstitial thermal therapy (MRIgLITT) for hypothalamic hamartomas, they decided to use this technique instead of open surgery to complete disconnective surgeries. " 11/06/2022 - "Magnetic Resonance-Guided Laser Interstitial Thermal Therapy for Hypothalamic Hamartoma: Surgical Approach and Treatment Outcomes." 06/01/2022 - "Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results."
4.	Laser Therapy (Surgery, Laser) 01/01/2018 - "Stereotactic laser ablation appears to be a safe and effective surgical option in the treatment of hypothalamic hamartoma." 07/10/2023 - "Laser ablation for treatment of hypothalamic hamartoma (HH) is a minimally invasive and effective technique used to destroy hamartomatous tissue and disconnect it from the functioning brain. " 07/10/2023 - "Intraoperative MRI Assessment of the Tissue Damage during Laser Ablation of Hypothalamic Hamartoma." 01/01/2021 - "All 3 patients underwent laser-ablation of hypothalamic hamartoma at the age of 14, 29, and 63 months. " 01/01/2018 - "This article presents a series of 71 hypothalamic hamartoma patients operated with laser ablation. "
5.	Electrodes (Electrode) 01/01/2020 - "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 published. " 03/01/2021 - "One-stage high-density focal stereo-array stereotactic electroencephalography guided radiofrequency thermocoagulation using cross-bonded electrode contacts for ablation range expansion is a safe and effective surgical approach for children with hypothalamic hamartoma." 01/01/2023 - "We aimed to investigate the methodology, results, complications and stereotactic application accuracy of electrode implantation and its explanatory variables in stereoelectroencephalography-guided radiofrequency thermocoagulation (SEEG-RFTC) for pediatric hypothalamic hamartoma. " 02/01/2016 - "Complications were noted in 3.8% of the patients submitted to cortical resection, 9.9% hemispheric surgery, 5% callosotomy, 1.8% depth electrode implantation, 5.9% subdural grids implantation, 11.9% hypothalamic hamartoma resection, 0.9% vagus nerve stimulation (VNS), and 0.5% deep brain stimulation. " 06/01/2009 - "Hypothalamic hamartomas (HHs) have been demonstrated as the cause of gelastic epilepsy, both by intracranial electrodes and functional imaging. "