Pediatric Hypothalamic Hamartoma Center
Hypothalamic hamartomas (HH) are rare, benign malformations of the hypothalamus, a region of the brain that regulates many critical functions. HH affect individuals from infancy onward and commonly cause refractory seizures, abnormalities in endocrine function, as well as cognitive and behavioral problems. These malformations are most often found during the diagnostic evaluation of patients for epilepsy (particularly gelastic seizures) or precocious puberty. Because HH patients experience unusual seizures, it is common for the diagnosis of HH to be missed and effective treatment to be delayed. As a result, the condition may progress, resulting in worsening seizures, developmental delays, emotional deterioration and endocrine (hormonal) disturbances.
Recently developed radiosurgery and traditional surgical techniques to remove or neutralize HH malformations offer new hope for patients who suffer from these tumors. Specific treatment approaches are based upon the individual anatomy of the HH lesion, which varies tremendously from patient to patient, and the patient’s unique clinical circumstances. Options include surgical resection by one of four different approaches and Gamma Knife radiosurgery. In addition to treatment of the HH malformation, management of associated conditions including endocrine disturbances, seizure activity and cognitive challenges must be addressed during the treatment process.
The Barrow Hypothalamic Hamartoma (HH) Center is recognized worldwide as the leading comprehensive treatment and research center for individuals suffering from this condition. Founded in February 2003, the Barrow HH team has treated more than 180 patients, experience that sets this center apart from other prestigious institutions. Co-existing at St. Joseph’s Hospital and Medical Center and Phoenix Children’s Hospital, the team conducts multi-disciplinary patient care conferences, supports collaboration between clinical and research specialists and facilitates educational programs to advance the diagnosis and treatment of this disease. Being that many HH patients travel internationally for care, the center develops individualized treatment plans for each patient consisting of diagnostic tests, team evaluations and treatment in one location under the direction of the program coordinator. The ability to deliver multidisciplinary services ensures ongoing health care management is focused on the goal of high quality, cost-effective medical care.
“Hypothalamic hamartoma (HH) associated with epilepsy is a relatively uncommon condition, occurring in roughly one in 200,000 individuals.”
Establishing care with an experienced team enables an accurate baseline assessment for seizure activity, behavior, cognition and endocrine function. These findings are invaluable in determining the optimal treatment modality, given that each affords somewhat different risks and benefits. Patient responses to treatment are individualized and realistic expectations are proven to build patient trust and improve overall quality of life. Skill and knowledge remain crucial throughout recovery as existing symptoms linger and new onsets such as diabetes insipidus, hypothalamic obesity, memory difficulty and exacerbation of behavioral problems can arise. Great effort is made to not only work closely with the patient’s local medical team to promote a continuum of care, but also to provide that patient and family with tools to function independently in society, such as recommendations for school programming, outpatient services and family resources where appropriate.
Hypothalamic hamartoma (HH) associated with epilepsy is a relatively uncommon condition, occurring in roughly one in 200,000 individuals. Until recently, epilepsy programs were not adequately equipped to evaluate and treat this patient population, which limited research opportunities. The center’s esteemed partners have included scientists at Stanford University Medical Center, Massachusetts General Hospital and Translational Genomics Research Institute (TGen) in Phoenix. Barrow’s HH team has published more than 35 hospital evidence–based research papers on HH, representing roughly one-third of the world literature produced annually. Research funding includes grants with the National Institutes of Health, Arizona Biomedical Research Commission and Barrow Neurological Foundation.
Focused on expertise and customer service, the Barrow HH Team collaborates with Hope for HH, a non-profit organization founded and lead by family members of those suffering from HH. Common goals of the two organizations include sharing accurate and current medical information about HH and uniting individuals pursuing treatment with centers of excellence committed to research and clinical advances to offer the safest and most effective treatment options.
Challenges in HH:
- Understanding the basic cellular mechanisms of seizures with HH and translating this into more effective therapy.
- Leveraging what we are learning from our large population of HH patients to meet this challenge.
- Translational research refers to the process by which discoveries at the laboratory bench lead to (or “translate”) into improvements in patient care. As medical researchers, these “bench to bedside” discoveries are our highest calling.
- As an example of this kind of research in progress, we have discovered that L-type calcium channel blockers can stop the intrinsic pacemaker-like firing activity of small HH neurons. This is a class of medication that is not used to treat seizures, but is available for other medical problems.
- As a result of this finding, we have initiated a research project to study the impact of calcium channel blockers on the control of gelastic seizures.
For more information, please contact the program coordinator:
Maggie Bobrowitz, RN, MBA
Barrow Neurological Institute at Phoenix Children’s Hospital
1919 E. Thomas Road Phoenix, Arizona 85016
Office (602) 933-0686