How to diagnose hypothalamic hamartoma?

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Hypothalamic hamartoma, also known as gray nodule hamartoma and hypothalamic neuronal hamartoma, is a rare congenital brain dysplasia. In fact, hypothalamic hamartoma is an ectopic nerve tissue in hypothalamus or gray nodule area, not a true tumor. How to diagnose hypothalamic hamartoma? Next, I'd like to share my views with you.

How to diagnose hypothalamic hamartoma?

Gelastic epilepsy belongs to a kind of diencephalic epilepsy. It is characterized by paroxysmal giggle, which lasts for several seconds or tens of seconds and stops suddenly. There is no loss of consciousness during the attack. It can occur several times a day without any inducement. With the development of the disease, other types of epilepsy can gradually appear. Smirk usually starts in infants and young children, and becomes more frequent with the increase of age.

Precocious puberty is characterized by breast development, menarche in girls, penis enlargement in boys, pubic hair, acne and coarsening voice. The authors reported that 74% of hamartomas had precocious puberty and 53% of hamartomas in this group. The levels of LH, FSH and estrogen or androgen in precocious puberty children are increased, and they enter puberty too early. Because of the rapid development of bone, the growth of precocious puberty children is too fast in the early stage, but they also stop developing early, and lose the potential of height development, resulting in short stature. Precocious puberty may be related to the existence of independent endocrine functional units in hamartoma.

It is not difficult to make a diagnosis according to the specific clinical manifestations and neuroimaging features of hypothalamic hamartoma. When children have precocious puberty, smiley epilepsy, MRI or CT show space occupying lesions in the interpedullary cistern, injection without enhancement, the first consideration is hypothalamic hamartoma.

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