Definition:
Hypothalamic hamartoblastoma syndrome, also known as Pallister-Hall syndrome syndrome, is a disease characterized by an abnormal growth in the brain known as hypothalamic hamartoma. Hypothalamic hamartoblastoma syndrome affects many parts of the body but does not pose serious complications most of the time. While the growths often do not cause any health problems they sometime lead to seizures and other life-threatening conditions. Some individuals with this disease have an obstruction in their anal opening, malformation of their airways and even kidney abnormalities.
Treatment:
Treatment and management of hypothalamic hamartoblastoma syndrome is on a case to case basis, depending on the symptoms present on the patient. If there are no unusual complications, the disease is left untouched. If the hamartoblastoma is determined to cause pressure on the brain, then it is necessary to remove it.
Symptoms and Signs:
Most individuals with hypothalamic hamartoblastoma suffer from a condition called polydactyly, or having extra fingers and toes or cutaneous syndactyly or having fused skin between fingers and toes. Some may experience seizures and hormonal abnormalities as caused by the growth in the brain.
Causes:
This disease is caused by mutations in the GLI3 gene, responsible for producing a protein that regulates gene expression. GLI3 plays an important role in the development and shaping of many organs and tissues. This disease can be inherited from an infected parent.
:
hypothalamichamartoblastomasyndrome
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