Hypothalamic Hamartoma Center


Hypothalamic hamartomas are rare tumors present at birth that reside in a critical part of the brain directly over the optic nerves. Made up of various brain cells, these benign (non-cancerous) masses form in the third ventricle (fluid-filled cavity) at the base of the skull during the first months of embryonic development. Hypothalamic hamartomas interfere with the function of the hypothalamus. The hypothalamus is located at the base of the brain and controls many of the basic functions of life such as hunger, aggression, sexual drive, growth, hormonal development, body temperature and salt and water metabolism.
These rare birth defects are found in only one in every million births. They lead to seizures and seldom respond to medication. Although benign, the tumors cause severe hormonal difficulties, early puberty, progressive deterioration of behavior and intelligence and short-term memory loss that may deteriorate over time. On diagnostic scans, hypothalamic hamartomas appear to be small, benign tumors.
 
The Hypothalamic Hamartoma Center at North Shore-LIJ Health System's renowned Cushing Neuroscience Institute supports a multidisciplinary, team-based approach for the diagnosis and treatment of this rare condition. The team consists of neurosurgeons, neurologists, epileptologists, neuropsychologists, pain management specialists, neuroradiologists and rehabilitation specialists.
Hypothalamic Hamartoma Symptoms
Classic symptoms of hypothalamic hamartoma include:
  • Gelastic seizures or laughing epilepsy, a disorder characterized by spells of involuntary laughter
  • Hormone disorders, including precocious (early) puberty
  • Behavioral issues, including increased aggression and irritability
  • Cognitive dysfunction, including poor short-term memory that may deteriorate over time
Learn more about Hypothalamic Hamartoma Symptoms.
 
Hypothalamic Hamartoma Diagnosis
Diagnosing hypothalamic hamartomas can be a daunting task since symptoms, particularly in infants, can mimic generalized seizure disorders or other conditions such as colic or reflux. Unless the hamartoma is very large, the commonly used CT scan may miss the lesion. High-resolution MRI scans are required to accurately diagnose this condition. The diagnosis of hypothalamic hamartoma must be made using a combination of factors including:
  • Thorough review of neurological symptoms
  • Expert review of diagnostic tests
It is recommended that diagnosis be conducted by a professional experienced with hypothalamic hamartoma patients.
Hypothalamic Hamartoma Treatment
Treatment for hypothalamic hamartoma includes:
  • Anti-epileptic drugs (AEDs) to control seizures
  • Hormonal maintenance to manage hormonal disturbances
  • Surgical management and/or resection of the hamartomas

Make an appointment at our Hypothalamic Hamartoma Center
Cushing Neuroscience Institute’s Hypothalamic Hamartoma Center makes it easy for you to take the first steps in ensuring the best neurological care for yourself and your family. Simply email us at neuro@nshs.edu, call us at (516) 570-4400 or fill out our Request an Appointment form.