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Neurofibromatosis and Tuberous Sclerosis Multidisciplinary Clinic Opens

Date: 30.12.18 | Update: 27.02.19


The multidisciplinary team comprises senior neurologist Dr. Rony Cohen; neuroophthalmologist and head of the Ophthalomology Unit Dr. Gad Dotan; head of the neurooncology unit Dr. Helen Toledano; head of neurosurgery Dr. Amir Kershenovich; director of the Epilepsy Clinc Prof. Hadassah Goldberg-Stern; senior neurologist Dr. Dror Kraus ;senior dermatologist Dr. Rivka Freedland; senior nephrologist Dr. Hadas Alfendry; deputy director of the Endocrinology and Diabetes Institute Prof. Shlomit Shalitin; social workers and a nurse. The clinic integrates a number of fields: neuroophthalmology, neurology, dermatology, and neurosurgery, and aims to provide a broad response to children suffering from these neurological diseases

 

NF1 is a neurocutaneous genetic disease involving the nervous system and the skin, occuring in 1:3000 births. It is caused by a mutation of a gene called nf1 located on chromosome 17. The gene’s function is to produce a protein called neurofibromin that is a tumor suppressor and regulator of cell proliferation. When the protein loses its activity due to the mutated gene, cell regulation is reduced which leads to uncontrolled cell growth causing growths on the skin. Most growths are benign, but they can compress nerves and other tissues. NF1 manifests itself at birth and is characterized by6 or more light brown (café-au-lait) spots, which are not dangerous and do not become cancerous. Other symptoms can develop throughout life such as a large head circumference, low body weight, hypertonia, problems in bone development in the legs, scoliosis, high blood pressure, growths on the optic nerve or brain, growths on the skin and subcutaneous nerves, low height, early puberty, delayed development (motor, oral), learning disorders, and attention deficit. There is no cure for the disease itself but spots can be treated if complications arise. Regular check-ups are most important and conducted in a clinic designated to the diagnosis and treatment of complications, and to prevent deterioration.

 

TSC is a multisystem neurocutaneous disease and prevalent in 1:6000 births. It is caused by the mutation in gene TSC1 located on chromosome 9 or due to a genetic mutation in gene TSC2 located on chromosome 16. These genes produce a protein that inhibits the function of another protein called m-TOR, which encourages the production of growths. The genetic mutation in these genes causes m-TOR to function incessantly spurring growths, mostly benign, in various body organs - the brain, heart, kidneys, skin, eyes and lungs. TSC can affect the child throughout life, and thus regular check-ups are required by a neurologist, dermatologist, ophthalmologist, nephrologist, developmental specialist and psychiatrist. There is no treatment for the disease but appropriate treatment can significantly improve many of the disease’s symptoms.

 

For further information, contact the Institute of Neurology at Schneider Children’s, Tel 972-3-9253615, Fax 972-3-9253887 or Email neuro2@clalit.org.il.


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