04/06/2020
My patient today,
كيس امروز من جهت انجام تست كرونا با شكايت تنگي نفس به اورژانس مراجعه
كه بررسي شد و خوشبختانه منفي بود اما تلنگري شد براي خودم جهت بررسي up to date هاي ناهنجاري ژنتيكيِ #نوروفيبروماتوز
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Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain..
Neurofibromatosis treatment focuses on encouraging healthy growth and development in children affected with the disorder and early management of complications. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can reduce symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain..
There are three types of neurofibromatosis, each with different signs and symptoms..
Risk factors:
Autosomal dominant inheritance pattern
Autosomal dominant inheritance pattern Open pop-up dialog box
The biggest risk factor for neurofibromatosis is a " " of the disorder. About half of people with NF1 and NF2 inherited the disease from the affected parent. People with NF1 and NF2 that don't have affected relatives likely have a new gene mutation.
NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.
The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about "15 percent" ..