Neurofibromatosis

Darrell J. Watts

• A genetic disorder that causes tumors to develop and grow in the nervous system.• leads to changes in the individual’s skin , bones( deformations) • 30%- 50% cases of neurofibromatosis arise randomly, from a random mutation.•Once the gene is present it can be passed on to future generations.•There is NF1 and NF2•which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia

What is Neurofibromatosis?......

•Presence of light brown sports on the skin.•Appearance of two or more neurofibromas (pea-sized bumps) that can grow either on the nerve tissue, under the skin or on many nerve tissues.•Manifestation of freckles under the armpits or in the groin areas.•Appearance of tiny tan clumps of pigment in the iris of the eyes (Lisch nodules).•Tumors along the optic nerve of the eye (optic glioma).•Severe curvature of the spine (scoliosis).•Enlargement or malformation of other bones in the skeletal system.

Type 1

•Tumors along the eighth cranial nerve (schwanomas).•Meningiomas and other brain tumors.•Ringing noises inside the ear (tinnitus), hearing loss and/or deafness.•Cataracts at a young age.•Spinal tumors.•Balance problems.•Wasting of muscles (atrophy)

Type 2

Symptoms………

•Results from a mutation or deletion of the NF1 gene. •NF 1 gene product neurofibromin serves as a tumor suppressor; decreased production of this protein results in the possible known effects in NF 2•1 in 3000•Located on Chromosome 17

Neurofibromatosis Type 1

•Learning disabilities with or without (ADHD) are seen in approximately 40% of NF1-affected individuals.• A much smaller percentage experience more significant cognitive difficulties such as mild or moderate mental retardation.

•When there are slow-growing tumors on the eighth cranial nerves. The tumors eventually cause pressure damage to the neighboring nerves.•Inheritable disorder with an autosomal dominant mode of transmission•Mutation of Chromosome 22 •1 in 60,000•In most cases this disease is either 50% inherited or the other half by a sudden mutation

Neurofibromatosis Type 2

Acoustic nerve: Other cranial nerves and meninges: Spinal cord: Intramedullary or ExtramedullarySkin: Eyes:

Intr

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•Are tumors and or lesions that usually arise directly from the neural tissue of the spinal cord• Syringohydromyelia and cystic.•Spinal cord ependymomas are the most common type in adults, and cord astrocytomas are most common in children•Cord hemangioblastomas are the third most common type of intramedullary spinal tumor.

Extr

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/tum

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•Extradural tumors most often arise in the vertebral bodies. •lesions can cause spinal cord compression either by epidural growth that results in extrinsic spinal cord or cauda equina compression

- Some NF1 tumors may become cancerous, and treatment may include surgery, radiation, or chemotherapy. Surgery, radiation, and chemotherapy also may be used to control or reduce the size of optic nerve tumors when vision is threatened. Some bone malformations can be corrected surgically

-For NF2 an MRI, even though Surgery to remove tumors completely is one option it may result in hearing loss. Surgery also can correct cataracts and retinal abnormalities.

-There is no currently accepted medical treatment or drug but surgical management is often effective.

Can I be cured?.......

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. In some extreme cases the pain will be severe and disabling.

What happens now?........

Title: From the archives of the AFIP - Neoplasms of the spinal cord and filum terminale: Radiologic-pathologic correlation Author(s): Koeller KK ; Rosenblum RS ; Morrison AL Source: RADIOGRAPHICS Volume: 20 Issue : 6 pages: 1721-1749 Published: NOV_DEC 2000

Title: TUMOURS AND TUMOUR-LIKE LESIONS OF THE SPINAL CANAL AND SPINE. A REVIEW OF 185 CONSECUTIVE CASES WITH MORE DETAILED CLOSE-UP ON SOME CHOSEN PATHOLOGIES

Author(s): Kwinta Borys; Adamek Dariusz; Moskala Marek; et al.Source: POLISH JOURNAL OF PATHOLOGY Volume: 62 Issue: 1 Pages: 50-59 Published: MAR 2011

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