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Neurofibromatosis

Neurofibromatosis is a broad term used for three different genetic disorders all of which result in tumors on the tissues of the nerves. These tumors can occur anywhere on the nervous system, or beneath the skin or on the bones. It may also form on the eye. Neurofibromatosis is normally diagnosed in early childhood. In most cases, children inherit the defective mutated genes from their parents. However in certain cases it occurs through spontaneous mutation.


Neurofibromatosis (NF1)

NF1, also known as Von Recklinghausen, is the most common type of Neurofibromatosis. NF1 can lead to symptoms ranging from mild to very severe. Some of the distinctive signs of Neurofibromatosis Type 1 include:


  • Au-lait spots (brown spots)
  • Freckles in the armpit, groin, other skin folds
  • Neurofibromas on or under the skin throughout the body
  • Deformation of bones
  • Big sized head and short stature
  • Scoliosis
  • Learning disabilities
  • High blood pressure
  • Tumors on the iris of the so called Lisch nodules
  • Tumors on the optic nerve.

Physical examination and family history of the patient form the basis of the diagnosis of Neurofibromatosis Type1. Imaging tests such as x-ray, CT scan and MRI may also be ordered along with skin biopsy to confirm the diagnosis.


There is no cure for NF1; patients have to be monitored carefully on a regular basis to check for any sort of complications. Surgery is advised if the tumors are causing malformed bones. In very rare cases, the tumors become cancerous. Like any other cancers, these tumors are surgically removed and treated with chemotherapy or radiation.


Neurofibromatosis Type 2

Neurofibromatosis Type 2 is rare compared to NF1 and is characterized by multiple tumors on the cranial nerve that controls hearing and balance. These tumors are known as Vestibular Schwannomas and give rise to deafness and balance problems. Tumors may also develop on the spinal nerve and other peripheral nerves that control swallowing, speech, eye movements and facial sensations and eventually hamper their effective functioning. Patient may also develop weakness, numbness, or tingling in an arm or leg.

The symptoms of NF2 typically start in the teens or early twenties. Hearing loss beginning during adolescence is the first and most distinctive feature of Neurofibromatosis Type 2. Cataract that starts at an early age is also a strong indicator of NF2. Similar to NF1, NF2 is also caused by defective gene mutation.

There is no cure for NF2; however patients will be treated symptomatically. Regular monitoring of ear and eye functions is carried out to understand any further deterioration. MRI is advised at frequent intervals to assess the size of the tumors. If the tumors are growing in size, they may be removed surgically or shrunk through radiation.


Schwannomatosis

Schwannomatosis is a rare form of Neurofibromatosis and it varies from NF1 and NF2 genetically and clinically. This condition causes tumors on nerves of the brain and spinal cord and nerves in the arms and legs. However Schwannomatosis never causes tumors on the vestibular nerve. Intense pain is a characteristic feature of Schwannomatosis. As tumors press on the nerves and tissues pain, numbness or tingling occurs in the affected parts of the body. There is no definite treatment for Schwannomatosis. Treatment plan includes pain management through medications and regular monitoring of the size of the tumors. Not all the tumors are ideal for surgical removal due to their delicate location. If it is feasible, surgical removal of tumors is the most effective method to manage pain.


Neurofibromatosis

Neurofibromatosis (NF) also known as Von Recklinghausen disease is a relatively rare genetic disorder where the patients develop multiple benign tumors (neurofibromas). These tumors occur under the skin and throughout the nervous system. Neurofibromatosis occurs in about one in 4000 births. There are 2 types of Neurofibromatosis: Neurofibromatosis Type I (NF-1) is the most common - 90% of all cases and Neurofibromatosis Type II (NF-2) takes the remaining 10% of cases.

Causes of Neurofibromatosis :
Neurofibromatosis is caused by a defective gene - in the case of NF1, the defective gene responsible is chromosome 17 and in the case of NF2 , it is the chromosome 22. The defective gene manifestation is for half the cases. The other half is because of spontaneous mutation.

Symptoms:

  • Presence of cafe-au-lait (brown/white) spots, patches of tan or light brown skin, usually about 5-15 mm in diameter.
  • Multiple freckles in the armpit or groin area
  • 90 % of cases of NF1 have tiny tumors called Lisch nodules in the iris (colored area) of the eye
  • soft tumors are the hallmark of NF-1. They occur under the skin (plexiform neurofibromas) located along nerves or within the gastrointestinal tract
  • Neurofibromas are small and rubbery and the skin overlying them may be somewhat purple in color
  • Skeletal deformities - twisted spine (scoliosis), curved spine (humpback) or bowed legs
  • Tumors along the optic nerve, which result in vision disturbance in about 20% of patients
  • The presence of NF-1 in a patient’s parent, child or sibling
  • speech impairment, learning disabilities and attention deficit disorder
  • seizure disorder
  • abnormal accumulation of fluid within the brain (hydrocephalus)

Apart from the above mentioned symptoms, the NF1 patients are susceptible to malignant brain tumors, as well as leukemia and cancerous tumors of certain muscles (rhabdomyosarcoma), the adrenal glands (pheochromocytoma) or the kidneys (Wilms’ tumor).

NF-2 symptoms: Tumors along the acoustic nerve resulting in the loss of hearing. If the tumor spreads to the neighboring nervous system it will cause weakness of the muscles of the face, headache, dizziness, poor balance and uncoordinated walking. Cataracts may form at an early age. Chances of developing brain tumors are high.


Diagnosis: If the presence of 2 or more symptoms mentioned above is there, it calls for additional steps in diagnosis. Diagnosis of NF-2 requires the presence of either a mass on the acoustic nerve or another distinctive nervous system tumor. The most diagnostic factor is the presence of the disorder in a patient’s parent, child or sibling. Careful testing of vision and hearing is mandatory to know about the progression of Neurofibromatosis. In addition X-rays of the bones will help to track the development of deformities. CT/MRI scans also help to check for the progression of tumors.
The electric response evoked in the cerebral cortex by stimulation of the acoustic nerve will be quite useful to determine the involvement of the acoustic nerve, while EEG (electroencephalogram) may be useful for suspected seizures.


Treatment: As of now, there are no treatment options available. The symptoms of NF1 /NF2 are treated individually. Tumors are removed surgically wherever possible. Some cases may require Chemotherapy or radiation therapy. Curving of spine or bowed legs (tibial dysplasia) may be corrected by special braces.

Prognosis varies depending upon the individual cases. If the tumors continue to grow, they may destroy the surrounding nerves. Blindness, loss of hearing and poor balance may be the outcome.


Adrenal Gland Tumor

The adrenal gland is located on the superior portion of the kidney. It produces some of the most important hormones associated with body metabolism. Many metabolic pathways depend upon the adrenal gland functionality through its hormone production. Some of the significant hormones produced by the adrenal gland include aldosterone, cortisol, sex hormones and adrenaline. The adrenal gland comprises two distinctive regions cortex and medulla respectively. Each region of the adrenal gland produces different kinds of hormones.

Adrenal Insufficiency

Adrenal insufficiency is a disorder predominantly associated with the dysfunction of the adrenal cortex region. The intensity of this disorder can be represented as primary or secondary depending upon the impaired adrenal cortex and its functionality. Studies imply that autoimmune diseases such as Addison's disease are the predominant cause for the adrenal sufficiency. In the secondary condition of this disorder, the production of adrenocortico tropic hormone is reduced to a greater extent. Although autoimmune disorders play a major role in the adrenal insufficiencies, other causes such as infectious diseases, vascular impairments, congenital disorders and also iatrogenic causes lead to adrenal insufficiencies. These factors predominantly influence the production of glucocorticoids.

The adrenal insufficiencies associated with mineralocorticoids are caused because of underlying conditions such as corticosterone methyl oxidase deficiency, impairments in the Zona glomerulosa and treatments such as heparin therapy. The recommended treatment for adrenal insufficiency is usually through hormonal therapy. Care must be taken while administering hormones as it may induce side effects such as obesity. Hydrocortisone is administered to treat adrenal insufficiencies.


Adrenal Pheochromocytoma

Adrenal Pheochromocytoma is a condition in which tumors are formed on the adrenal gland. These tumors occur predominantly on one adrenal gland as an unilateral condition. The bilateral condition is found only in rare cases. These tumors occur together with other disorders such as endocrine neoplasia type 2. Majority of these pheochromocytomas are benign in origin and only a few cases develop malignancy.

The symptoms of adrenal Pheochromocytoma include headaches, palpitation, profuse sweating, glucose intolerance, heat sensitivity and decreased blood pressure. Since pheochromocytomas are associated with variations in blood pressure, the diagnosis of the respective underlying condition is done by the determination of products obtained from the breakdown of adrenaline and noradrenaline. Other tests include the glucagon stimulation test for monitoring the blood pressure and the clonidine suppression test to detect the presence of tumors which lower the catecholamines. Confirmatory tests are done using radiological determination through CT scan and MRI scans.

Pheochromocytoma is treated with blood pressure lowering drugs such as alpha adrenergic blockers and the tumors associated are surgically removed. Post-operative care such as transfusion of fluids is given to patients who experience weakness because of low blood pressure.


Adrenal tumors

Adrenal tumors are generally categorized into functional and nonfunctional depending upon their type. Tumors associated with the adrenal cortex fall into the functional category whereas the remaining part of the adrenal gland secreting mixed hormones such as sex hormones and aldosterone fall under the nonfunctional category. Metastases associated with adrenal gland are more prominent in the determination of preexisting neoplasms and underlying adrenal insufficiency. Adrenal tumors of the benign non-functional origin are also caused by other conditions such as amyloidosis and granuloma. The malignant nonfunctional tumors are caused by conditions such as neuroblastoma and lymphoma.

Adrenal tumors are identified by a careful examination of the patient history followed by biochemical and radiological investigations. Fine needle aspiration biopsy is advised for pathological determination of the existing tumor. Surgical procedures such as laparoscopic adrenalectomy have produced good results in the removal of adrenal tumors.


Tags: #Neurofibromatosis #Neurofibromatosis #Adrenal Gland Tumor
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Collection of Pages - Last revised Date: July 8, 2020