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Hypothalamic Hamartoma

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1 Hypothalamic Hamartoma on Sun Feb 21, 2010 6:34 am

TJW

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This syndrome consists of

  • abnormally early puberty
  • partial seizures with laughing as a frequent feature
  • increased irritability and aggression between the seizures.

The partial seizures may be simple or complex and there may be secondarily generalized tonic-clonic seizures.
The seizures typically begin in childhood. The cause is a benign growth in the brain of abnormally formed tissue called a hamartoma, which is present from birth but often does not cause problems until school age.
The hamartoma affects the hypothalamus, which is an important area of the brain for regulating hormone production (endocrine function). As a result, sometimes the children will have hormonal abnormalities, such as early puberty (precocious puberty). Some individuals will suffer from growth failure due to abnormalities in thyroid or growth hormone.
MRI is necessary to identify the hamartoma. CT scans are usually normal.
If the hamartoma extends beyond the hypothalamus and below the brain, treatment with surgery may be an option. Seizure medicines can also be beneficial, as well as medications aimed at hormonal and behavioral problems, if needed.
Surgery is often effective in eliminating the seizures, behavior problems, and endocrine disturbances. For individuals who are not candidates for surgery, life-long treatment with medication is required.

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