1 / 10

Neurofibromatosis (NF)

Neurofibromatosis (NF). By Angela M. Overview. Discovered by Friedrich Daniel von Recklinghausen in 1882 Genetic neurological disorder that affects cell growth in nerve tissue

sheera
Download Presentation

Neurofibromatosis (NF)

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Neurofibromatosis (NF) By Angela M.

  2. Overview • Discovered by Friedrich Daniel von Recklinghausen in 1882 • Genetic neurological disorder that affects cell growth in nerve tissue • Occurs throughout the world and affects men and women of all races and ethnic groups equally, but is more prevalent in cystic fibrosis, Duchenne muscular dystrophy and Huntington’s disease combined • 3 different types: Type 1, Type 2, and Schwannomatosis

  3. Type 1 • Also called von Recklinghausen Neurofibromatosis • Transmitted on chromosome 17 • Caused by a mutation or deletion (very rarely) of the NF1 gene • Occurs in late childhood • Occurs in 1 to 3,000 births worldwide

  4. Type 2 • Transmitted on chromosome 22 • Caused by mutation or deletion (very rarely) of the NF2 gene • Occurs in late teens / early 20s • Occurs in 1 to 25,000 people worldwide

  5. Schwannomatosis • Rare form in which multiple benign tumors form in peripheral nerve fiber cells • Occurs in 1 to 40,000 people worldwide

  6. How you get it • Inherited as an autosomal dominant trait, but can also result from spontaneous genetic mutations • Parent with the disorder has a 50% chance of passing it on to his/her children • Parent can only pass his/her type of NF to the child 50% Nn – affected 50% nn - normal

  7. Signs and Symptoms • Type 1: • Multiple skin lesions that appear during infancy • Benign tumors (may or may not be painful) may develop on skin (cutaneous), under skin(subcutaneous), and in connective nerve tissues (schwannomas) in adolescence; in 2-5% of cases tumors become malignant • Curvature of the spine (scoliosis) • Dizziness • Enlargement and deformity of bones (may cause chronic pain) • Hearing loss • Learning disabilities • Tumors of optic nerves (optic gliomas) – may cause blurry vision, vision loss, and Lisch nodules ( type of benign tumor) on iris

  8. Signs and Symptoms (Ctn.) • Type 2: • Tumors frequently develop on 8th cranial nerve causing symptoms such as: • Dizziness • Ringing in ears • Loss of balance • Significant hearing loss • Schwannomatosis: • Chronic pain in any part of the body

  9. Treatment / Prevention • No cure • Cannot be prevented • Surgery • Can remove painful cutaneous and subcutaneous tumors and those that occur on visible areas of the body • May also remove schwannomas and nerve tissue tumors that cause pain, sensory loss, and loss of function • Radiation • Shrink tumors

  10. Prognosis • Type 1: • Most have normal life expectancy, but severe cases may reduce life expectancy by up to 15 years • Type 2: • Depends on age of onset and number and location of tumors • Prompt diagnosis and treatment may improve life expectancy up to more than 15 years following diagnosis • Schwannomatosis: • Too rare to be determined

More Related