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Childhood Neurofibromatosis

Neurofibromatosis (NF) is an unpredictable, progressive disorder that may be inherited or acquired through spontaneous genetic mutation, and it varies in medical, physical and psychological manifestations. NF consists of three genetic disorders that cause tumors to grow around the nerves. Although most tumors caused by NF are benign, they may still cause problems with the spinal cord and surrounding nerves, including paralysis in some patients. Nearly 10% of tumors will develop into malignant cancers. For patients with malignant tumors and tumors affecting the spine, early detection and treatment offers the best chance of survival and prevention of debilitating side effects.

TYPES

Neurofibromatosis type 1 (NF1) is the most common neurological disorder caused by a single gene. Most NF1 patients have mild to moderate symptoms, but it is a progressive disorder that can lead to disfigurement, skeletal abnormalities and learning disabilities.

Neurofibromatosis type 2 (NF2) is much rarer than NF1 and is characterized by tumors on the vestibular nerve. NF2 brings an increased risk of other types of nervous system tumors and may cause severe vision problems.

Schwannomatosis has been distinguished more recently from NF1 and NF2 by the presence of multiple schwannomas (tumors that grow around nerves without involving the skin or other organs) everywhere in the body except on the vestibular nerve.

SYMPTOMS

Neurofibromatosis Type 1

  • Six or more brown spots (cafe-au-lait) on the skin measuring more than 5 millimeters in children and more than 15 millimeters in adolescents
  • Two or more neurofibromas (slow-growing tumors of the nervous system) or one plexiform neurofibroma (peripheral nerve tumor)
  • Freckling in armpit or groin areas
  • Optic glioma (tumor affecting the optic nerves or where the nerves cross)

Two or more Lisch nodules (growth on the eye's iris)

  • Skeletal or spinal abnormalities such as scoliosis or thinning of the shin bone
  • Family history of NF1

Neurofibromatosis Type 2

NF2 is distinguished by tumors that grow on the hearing nerves, usually causing partial or complete deafness.

TESTS & PROCEDURES

Our specialists diagnose neurofibromatosis primarily by giving a thorough physical exam. In addition, we have experts that conduct special genetic testing and/or perform MRI and CT scans for more complex cases of NF. After a complete assessment, the physicians are able to better determine the risk for tumor development in the patient. The Children's Cancer Hospital also provides a pediatric neuropsychologist to determine any learning disabilities the patient may be facing.

TREATMENT

Treatment for neurofibromatosis varies according to the location and type of tumor(s) present. For growing pediatric brain tumors, the standard treatment is chemotherapy, but surgery and radiation may also be required. Peripheral nerve and spinal tumors are treated with surgery, and malignant nerve and spinal tumors are treated with a combination of surgery, radiation and chemotherapy. Due to the majority of patients that experience learning disabilities, the Children's Cancer Hospital has developed a special intervention program to assist these patients with educational support needs.

About Us

St. Gregorios Medical Mission Hospital was started in 1975, and was registered under the Travancore — Cochin Literacy, Scientific and Charitable Act with Reg No. A334/78. The Institution is owned and controlled by the society of the Malankara Orthodox Syrian Church, the head of which is His Holiness Baselious Marthoma Paulose II, Read more

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