In one of nature's cruel ironies, the laughter is a symptom of hypothalamic hamartoma, an extremely rare disorder that brings sorrow to the victims and their families.
42.
Mutations in the " PTEN " gene cause several other disorders that, like Cowden syndrome, are characterized by the development of non-cancerous tumors called hamartomas.
43.
Moreover, even though hamartomas show a benign histology, it does not eliminate some rare but life-threatening clinical issues such as those found in tuberous sclerosis and neurofibromatosis type I.
44.
It has been associated with several different conditions such as temporal and frontal lobe lesions, tumors, atrophy, tuberous sclerosis, hemangiomas, and post infectious foci, but mainly hypothalamic hamartomas.
45.
Cowden syndrome is an autosomal dominant genetic disorder characterised by multiple benign hamartomas ( trichilemmomas and mucocutaneous papillomatous papules ) as well as a predisposition for cancers of multiple organs including the breast and thyroid.
46.
Nicholas was the 50th patient worldwide on whom Dr . Jeffery Rosenfeld has performed his highly successful surgical technique to treat hypothalamic hamartoma, or " HH " as it is called in family support groups.
47.
Rosenfeld is the world's foremost expert in the surgical treatment of hypothalamic hamartoma, said Dr . David Pincus, clinical assistant professor in the neurological surgery department of UF's College of Medicine.
48.
The tumor, known as a hamartoma, was located at the base of the brain, near the hypothalamus _ which controls eating, sleeping and other actions _ and the optic nerve, which controls sight.
49.
Hamartomas are typically benign; however, people with Cowden syndrome are at increased risk of developing several types of cancer, including cancers of the breast, thyroid, uterus ( endometrial ), and kidney cancers.
50.
Together, the disorders caused by " PTEN " mutations are called PTEN hamartoma tumor syndromes, or PHTS . Mutations responsible for these syndromes cause the resulting protein to be non-functional or absent.
