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Neurofibromatosis type 2--living with the complications: a case study.

Abstract: Neurofibromatosis is a disease caused by a chromosomal defect that can occur spontaneously or be inherited. The disease is grossly disfiguring and carries with it significant psychological sequelae. It is characterized by tumors on nerve sheaths that can arise anywhere in the body. The rate and frequency of occurrence is unpredictable. More than nine different types of neurofibromatosis have been identified, but other than types 1 and 2, they are quite rare. All types of neurofibromatosis persist for a lifetime, so nurses from different backgrounds may encounter such a patient for various reasons. Nursing care should focus not only on the medical issues the patient presents with, but also on the psychosocial needs that may arise.

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Mr. D, a 68-year-old, happily married man with 2 children in their early 20s, was admitted to the hospital upon his family physician's recommendation for evaluation of recent weight loss, increasing difficulty eating and swallowing, blurry vision, and generalized weakness. Past medical history included seasonal allergies, gastritis, left deep vein thrombosis (DVT), and neurofibromatosis type 2 (NF-2). Past surgical history included a left sub-occipital craniotomy for an acoustic neuroma removal in 1980 and multiple surgeries to remove neurofibroma from his periphery (two from his left lower extremity and two from his left upper extremity). He had several laminectomies for removal of neurofibromas in the thoracic and cervical spine. He had no known drug allergies and his current medications were warfarin, ranitidine, pantoprazole, and loratadine, as needed.

On examination, he was noted to have left-sided ptosis, diplopia, and miosis. He was deaf in the left ear, had a left-sided facial weakness, and numbness around the mouth. He frequently spit into tissue paper because of his inability to swallow his own saliva. Because he was aware that his words sounded garbled, his speech was cautious. A baseball-sized, solid lump was compressing his left ulnar nerve at the wrist and restricted finger movement. Over the years, it had caused severe contractures and deformity, leaving him unable to use the hand. On his right radial nerve, there was another large, relatively new neuroma that had not yet affected motor or sensory function of his hand.

There was another very large neuroma on his left peroneal nerve that caused significant foot drop and an unsteady gait, requiring Mr. D to use a walker to move about the room. His left lower extremity was cool and edematous from a resolving deep venous thrombosis (DVT), for which he had been hospitalized 3 weeks earlier. He was on warfarin 2.5 mg for his DVT. Three days before his current admission, his family physician had instructed him to stop taking the drug because his prothrombin time was greater than 4 international normalized ratio (INR), significantly above the target of 2.5 INR. His speech was dysarthric and had progressively worsened, and his swallowing had deteriorated to the point where he could no longer eat or drink. Mr. D, at 180 pounds, had a corpulent belly that belied an exhaustion that was unmistakable in his movements and speech, the result of having lost more than 20 pounds in the last 3 weeks.

Epidemiology

Neurofibromatosis is characterized by a disordered growth of dermal layers. It can result from a hereditary chromosomal defect or occur spontaneously, the latter accounting for 30%-50% of cases (National Institute of Neurological Disorders and Stroke [NINDS], 2004). There are more than 9 variations of neurofibromatosis, however, the majority of them are rarely ever encountered. Therefore, the disease commonly is divided into two main types: neurofibromatosis 1 (NF-1), also known as von Recklinghausen disease, and neurofibromatosis 2 (NF-2). The two types of neurofibromatosis are distinctively different in that their genetic mutation occurs on different chromosomes, which prevents the possibility that a person with one form of the disease is predisposed to developing the other form as well (Evans, 1999).

NF-1, by far the more common condition, is seen in approximately 1 in 4,000 births in the United States (National Neurofibromatosis Foundation [NNF], 2004). While neurofibromas can develop anywhere, NF-1 is considered the "peripheral" disease that is characterized by many small nodulated tumors that occur prominently on the trunk and along the brachial plexi. Because of its obvious clinical symptoms, NF-1 diagnosis normally is made early in life.

NF-2 is considered the "central nervous system" disease, characterized by its hallmark bilateral acoustic neuromas and intracranial tumors, especially benign meningiomas and ependymomas (Greenberg, Aminoff, & Simon, 2002). Peripheral manifestations also may occur with NF-2, but they usually are larger and less numerous than they are with NF-1. NF-2 affects only approximately 1 in 40,000 people (Evans, 1999; NNF, 2004). The disease process is precarious and unpredictable, with tumor growth ranging from mild to aggressive and occurring at different stages of a person's life. There currently is no means to anticipate how severe the disease will be or how aggressively the tumors will arise. The tumors, however, typically are benign in both types of the disease and rarely become cancerous.

Background

NF-2 is a chromosomal defect that affects men and women of all races and ethnicities equally. The diagnosis typically is not made until the second or third decade of life, when symptoms begin to emerge. Initial complaints commonly include tinnitus, vertigo, imbalance, and hearing loss associated with the growth of acoustic neuromas. Many NF-2 sufferers will have a history of childhood cataracts or family members with a history of brain tumors. There is a 50-50 chance of a mutated gene passing from parent to child, making family history a vital component for diagnosis (Evans, 1999). Diagnosis can be made definitively with genetic testing; a clinical diagnosis can be made if the patient has bilateral acoustic neuromas or exhibits classic symptoms and has a first-degree relative who received a diagnosis of NF-2. Approximately 10% of patients with a unilateral acoustic neuroma will have some degree of NF-2 (Evans, 1999). Diagnosis can be made in these patients, regardless of a negative family history, if the patient also has any two of the following symptoms: meningioma, glioma, schwannoma, and/or juvenile posterior cataracts (Evans, 1999).

Treatment is largely symptomatic for relief of troublesome lesions using surgical resection and stereotactic radiosurgery of tumors. Magnetic resonance imaging (MRI), audiometry in patients with preserved hearing, and brain-stem auditory evoked potentials are used for screening for new tumors (Bance & Ramsden, 1999). There are no medications to arrest the disease process, and there is no cure. Prognosis in the past was rather poor, with an average life span of 40 years. Today, with careful monitoring and intervention to remove aggressive or symptomatic tumors, an otherwise healthy person with NF-2 can live longer.

Diagnosis and Treatment

In the emergency department, initial consults were made to ophthalmology, medicine, otolaryngology (ENT), and speech. Neurosurgery became the primary team, because the patient was already well known to the service and further surgery might be needed during this admission. A full laboratory panel was obtained, including complete blood count (CBC), serum chemistries, and PT/PTT/INR. Mr. D was started on a heparin drip at 700 units per hour for his DVT and sent to the neurosurgical floor for further workup. Later that day, tests to evaluate the patency of Mr. D's vocal cords and swallowing ability were completed. Structurally, his cords and muscles appeared to be intact; clinically, however, he was unable to complete the tests. He then was set up for a video swallowing series for further evaluation.

An ophthalmologist assessed for visual acuity and extraocular movements. Homer's syndrome was thought to be responsible for the visual disturbances, so a series MRI scans of the head, neck, and orbits, and a CT scan of the chest were ordered. A medicine consult was obtained to determine the cause of the increased INR, which continued to rise despite the discontinuation of a very low dose of warfarin 3 days previously. The neurosurgery service also ordered an MRI of the entire spine.

With so many different consults and tests ordered, it was not surprising that Mr. D complained he did not understand everything that was going on. Coordinating Mr. D's activities was a difficult nursing task as well. Mr. D was afraid to go for MRI scans, not because he was claustrophobic, but because he could not swallow. When his saliva accumulated in his mouth during the several hours it would take to complete all the tests ordered, he would have to let it run down his face--an unpleasant feeling at best and degrading at worst. The nurses spoke to the MRI technicians to determine how to make the experience as tolerable as possible from Mr. D. The solution was to pad multiple gauzes around the both sides of his mouth and neck combined with a yankauer suction strategically placed at the side of his mouth to catch the saliva. The MRI technician agreed to stop the scan at 15-20 minute intervals, when possible, so Mr. D's nursing assistant could change the pads, if necessary. While the situation was not perfect, Mr. D was deeply grateful for the consideration showed him to help him maintain a sense of dignity.

After his tests, it was decided that Mr. D would need a temporary nasal feeding tube to get through the weekend until all the results came back. Clinically, it appeared that a permanent feeding tube eventually would be necessary, a possibility that was discussed at length with Mr. D. Physical and occupational therapy were consulted regarding his unsteady gait and to make recommendations for discharge. Case management was contacted for discharge planning. Social work was asked at the patient's request to assist him in completing an advance directive. Mr. D was quite aware of the progressive nature of his condition and was especially concerned that his current symptoms were the start of more difficult times ahead.

Over the next few days, all the scans were completed. As suspected, multiple new neurofibromas had developed throughout the patient's body. The CT of the head and chest showed a right-orbit soft-tissue nodule, two soft-tissue masses next to the aortic arch, multiple masses involving the chest wall, small subpleural masses of the intercostal nerves, soft-tissue masses at T9,10, and upper abdominal masses. The MRI showed bilateral lesions at the jugular fossa, right and left orbital masses, soft-tissue masses at C1-4, and a left parotid mass. Of particular interest were the bilateral tumors at the level of C4-C5 that were making it impossible for the transmission of signals to the muscles innervated by the 10th cranial nerve to initiate swallowing. At this point, Mr. D's breathing was not compromised, so a tracheostomy was not considered; however, he was informed that it might be necessary in the future.

The trauma team was consulted regarding placement of a percutaneous endoscopic gastrostomy (PEG) tube for long-term feedings. The patient, who was already intimately acquainted with the precarious course of his condition, accepted the idea of a PEG tube. Mr. D also as eager to return home, so he readily agreed to the procedure, which was then scheduled for 2 days later.

Mr. D's INR levels had dropped significantly during his hospital stay. The medicine team felt that the initial problems with the INR values were due to a vitamin K deficiency related to malnutrition. Thus, they were comfortable starting the patient back on warfarin, 5 mg every night. The patient was rather apprehensive about taking this dose after having so many problems on half the amount, but agreed to try it within the safety of the hospital setting. It also was decided to convert him from the heparin drip to subcutaneous injections of anoxeparin as bridge therapy until his INR levels became therapeutic with the warfarin. Mr. D's discharge needs were becoming complicated, and he was becoming overwhelmed.

Wednesday afternoon, Mr. D got his PEG tube. The following morning, he was cleared to start tube feedings. The nurses were given the challenge of teaching Mr. D to do his own anoxeparin shots and bolus feedings by lunchtime, because he was to be discharged home in the afternoon.

Nursing Care

The nurses played an essential role in giving Mr. D the confidence to undergo his tests and providing him with the support he needed to make his discharge home successful. The discharge instructions provided a very specific list of what needed to be done. The day-shift nurses assisted the patient and his wife in performing bolus feeding during meals and general maintenance of the tube. The nurses taught them how to assess whether Mr. D was tolerating the feeds and what to do if he was not. Mr. D also was provided with a list of follow-up appointments to schedule, including neurosurgery, for further evaluation and to discuss treatment options such as radiation therapy versus surgery, and his primary care physician, who would manage his DVT using warfarin and anoxeparin.

Although Mr. D wanted to go home, he looked terrified when the nursing staff tried to give him his discharge instructions. Because of the contractures to his left hand, doing his own bolus feeds was nearly impossible. His wife chose to work painstakingly with the nurses to become proficient in the tasks Mr. D's condition demanded, despite knowing it would not ultimately be required of her once the home care services set up to assist them began.

Up until this point, Mr. D had had only minor disabilities; now his condition was debilitating. With this hospital stay, Mr. D seemed to realize the growing importance of his wife in his care. Mrs. D tried to accept her role as it was now being redefined. Mrs. D was shown how to give subcutaneous injections, which the patient would need twice a day. Mr. D continued on 5 mg warfarin following discharge. His PT/INR levels needed to be checked every other day for the first half of the week, and this check was coordinated with his family physician. The support given to Mr. D made him feel less burdened; he would not need to have total responsibility for his own care.

Discussion

Mr. D was a difficult case to manage both medically and from a nursing perspective. With test results verifying what he already felt he knew, Mr. D became very anxious and depressed, and his family was forced to face a precarious uncertain future. While Mr. D had NF-2 for the last 30 years, the appearance of so many new neurofibromas and insertion of the PEG tube forced him to acknowledge the extent to which his condition could take over his life. On day 8, Mr. D was wheeled out of the hospital with his wife at his side. Everyone wished him well.

Summary

Neurofibromatosis is a hereditary, chromosomal defect characterized by tumors arising from nerve sheaths that can occur anywhere in the body. For people afflicted with the disease, the disfigurement it causes can be devastating not only psychologically, but physically as well. The medical issues that arise have varying degrees of severity, and each case is unique and unpredictable. Nurses are in an ideal position to understand and coordinate the complex needs of these patients within the interdisciplinary team. Mr. D's case was an example of the impact that nursing can have on these patients and their families. The patient's future is precarious, yet he is dealing with it the only way he knows how: one day at a time.

References

Bance, M., & Ramsden, R.T. (1999). Management of neurofibromatosis type 2. ENT: Ear, Nose, & Throat Journal, 78(2), 91-94.

Evans, D.G. (1999). Neurofibromatosis type 2 genetic and clinical features. ENT: Ear, Nose, & Throat Journal, 78(2), 97-100.

Greenberg, D.A., Aminoff, M.J., & Simon, R.P. (2002). Clinical Neurology, (5th ed.) Stamford, CT:Appleton & Lange.

National Institute of Neurological Disorders and Stroke (NINDS). NINDS neurofibromatosis information page. Retrieved August 19, 2004, from http:www.ninds.nihgov/health-and medical/disorders/neurofibro.htm

National Neurofibromatosis Foundation (NNF). NNF information page. Retrieved August 19, 2004 from http://www.nf.org/

Questions or comments about this article may be addressed to Catherine Harris, MBA RN CNRN, 2 Linden Ave., #C402, Haddonfield, NJ 08033, or by e-mail to catieh99@yahoo.com. She is a staff nurse, Neuro ICU, Jefferson Hospital for Neuroscience, Philadelphia, PA.
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Author:Harris, Catherine
Publication:Journal of Neuroscience Nursing
Geographic Code:1USA
Date:Jun 1, 2005
Words:2700
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