Neurofibromatosis (NF) is an autosomal dominant genetic disorder of the nervous system that affects the development and growth of nerve cells; the genetic defect allows tumors to grow on nerves. Although NF is usually a hereditary condition, it can also develop through spontaneous gene mutation, which can start a new hereditary line. There are two main classifications of neurofibromatosis. Type 1 (NF1), also known as von Recklinghausen disease, is the most common classification, with an incidence of 1 in 3,000‐4,000 people. Most commonly, skin changes, multiple tumors (including optic gliomas), or bone abnormalities appear between birth and 10 years of age. Type 2 (NF2) is less common and usually presents with bilateral tumors on the eighth cranial nerves. Hearing loss, tinnitus, and balance problems may be evident. Neurofibromas begin in the cells of the myelin sheath and grow around peripheral nerves (Fig 1). Tumors that grow on both sides of the nerve sheath are called “dumbbell” tumors because of their resemblance to dumbbell weights.
Although symptoms tend to worsen over time in both types of NF, people still have a normal life expectancy. Current treatment consists of controlling symptoms; there is no cure. In addition, there is no clear consensus on the appropriate time for surgery for multiple tumors. Chemotherapy and radiation may be used to treat optic gliomas if vision is endangered (National Institute of Neurological Disorders and Stroke [NINDS], 2006).
The following case study illustrates how a multidisciplinary team dealt with the care of a young woman with neurofibromatosis as she recovered from surgery. Delivery of care dilemmas faced by the nursing team and the nursing interventions designed to meet patient needs are presented. The final outcomes and what the nurses learned from this experience are also included.
AF, a 19‐year‐old female, presented to the emergency room with weakness of her arms and legs, numbness in her hands, and mild gait disturbance, which had started about 1 week prior. AF was a single female with no children. She lived at home with her mother and brother. She had no history of recent trauma, headaches, or memory problems; at the time, she was under treatment for a urinary tract infection. There was no evidence of vision or hearing impairment or bowel or bladder involvement. AF had no surgical history, but she did have a positive family history of neurofibromatosis. Her brother, mother, and uncle had all been diagnosed with NF1. Although her brother and uncle had multiple café‐au‐lait spots, her mother had hundreds of skin nodules covering her face, trunk, arms, and legs. The disfigurement caused by this disorder was the most distressing manifestation for AF.
On physical examination, the following were noted: a pale, cachectic, and physically underdeveloped female at 5′ 2″ and 87 pounds presenting with curvature of the spine; several skin nodules on chest and back; and several facial hemangiomas around the cheeks and chin area. In addition, multiple hyperpigmented skin lesions (café‐au‐lait spots) on her back and chest areas and two plexiform neurofibromas on her back were noted.
A computed tomography scan (CT) of the brain done in the emergency room revealed a 1 × 2 cm glioma in the area of the corpus collosum with mild mass effect (Fig 2). A neurosurgeon was consulted, and based on examination findings and her symptoms, AF was admitted to the hospital. A magnetic resonance imaging (MRI) scan with and without gadolinium was ordered to evaluate her brain and cervical spine. The brain MRI showed the single mass with no enhancement. The cervical spine MRI revealed neurofibromas on every nerve root bilaterally from C1 to C7 (Fig 3). It also showed multiple extramedullary masses from C1‐C2‐C3 with moderately severe spinal cord compression down to C6 level (Fig 4). A chest CT was also ordered and showed multiple subcutaneous masses in the upper chest wall with multiple masses tracking along the ribs. A cerebral angiogram showed no significant blood supply to the neurofibromas, ruling out the need for embolization prior to surgery. Routine lab tests were unremarkable except for mildly low levels of blood urea nitrogen (BUN) and creatinine.
After the radiological studies were completed, the neurosurgeon prescribed one dose of 10 mg dexamethasone followed by 4 mg every 6 hours to decrease cerebral edema. After 3 days, AF was able to walk around the hospital room with little difficulty, and the numbness in both her hands had greatly diminished. AF was discharged home and agreed to undergo surgery to remove the tumors causing the spinal cord compression the following week.
AF's case was unusual because of the multiple tumors present on the nerve sheaths; there was no standard for the operation or hospitalization. On the day of admission, AF was taken to the operating room where the neurosurgeon performed a left lateral approach with C1, C2, C3 hemilaminectomies without fusion; partial C2, C3 facetectomies; and resection of multiple intracanalicular neurofibromas from C2 to C3. The operation took 16 hours, and AF was transported to the intensive care unit in stable condition. Neurologically, she was alert and oriented, moved all extremities with generalized weakness, and complained of incisional pain. AF was moved to the neuroscience step‐down unit (NSU) 2 days later. She remained in the NSU for 5 days where nurses continued to monitor her wounds and neurological status. Physical therapists worked on muscle strengthening and coordination training, and occupational therapists assisted AF with relearning how to adapt to a limited range of motion during the healing process. She was discharged to a local rehabilitation center for continued strength‐building therapy and returned home 1 week later with a walker.
Most of the nursing care AF received focused on wound assessment, monitoring neurological status and vital signs, and increasing her activity levels. However, she frequently refused to get out of bed, participate in activities of daily living (ADLs), or eat more than a few bites of food. She complained of pain when her mother was in the room, but denied pain when she was alone. She cried constantly and even began to cry when she was asked how she felt. Her mother complained that AF was not improving and blamed the nurses. When the nurses grew frustrated, a case meeting was held and issues were discussed. The focus of AF's nursing care had been on her medical condition, and it was determined that she was recovering well physically. Therefore, spiritual, personal, and psychological avenues were explored in the case meeting. It was finally understood through multiple conversations with AF that a fear of loss of independence, disfigurement, and an unknown medical future caused her outbursts and depression. As a result, a care plan was created to address these issues.
The nurses believed that AF's anxiety level could be influenced by the amount of information that she learned about her condition. The anxiety AF experienced growing up with her mother's physical symptoms increased as her own body changed and the condition became more visual. Assessing AF's knowledge of the condition and her symptoms helped the nurses create an education plan, as well as identify her needs for support and stress management as she moved through the medical process. Information on support groups, medical literature, and stress reduction through massage therapy was introduced and explained to her.
Although AF's family tried to be supportive, their anxiety and subsequent behaviors interfered with their relationship with the nurses. AF was concerned about her loss of independence and ability to continue in a career and was insecure about what her future would hold. The nurses worked to communicate with the patient and her family to create an understanding of the situation and its impact on them; the resulting trust and care created a therapeutic relationship.
AF's frequent crying and refusal to participate in her own care were actually signs of a change in selfconcept. She was unable to express her feelings to her family and caregivers during the first phase of adaptation because she perceived a negative support system. Her mother enabled her dependency, and the staff members backed away from a noncompliant patient. Her mother was included in discussions with AF as goals were set, but she remained pessimistic of AF's ability to achieve them. As AF participated in self‐care and adapted her goals to include her current disabilities, she made progress in coping with the changes in her body (Carpenito‐Moyet, 2004).
The changes in AF's affect were remarkable. She began talking openly with the staff about her feelings and fears. She was also able to understand more about her condition, its limitations, and realistic expectations for the future. AF discussed her spiritual resolve and how she decided to try to help others with this condition, especially children. She looked forward to participating in support groups and gaining more knowledge. The neurosurgeon talked at length with her about the likelihood of tumor recurrence and growth and the possible need for more surgery to remove tumors in the future. AF's physical, emotional, and interpersonal healing were in progress, and she returned to work within a month.
Understanding the many aspects of neurofibromatosis and how the condition affects patients physically, mentally, and spiritually made an impact on everyone involved in this case. Neuroscience nurses should not be judgmental when dealing with noncompliant patients and difficult families and should look deeper into difficult behavior. The personal relationship between the patient and nurse may have more impact on the healing process than the medical therapy.