Interdisciplinary Rehabilitation Program for a Young Man with Type 1 Neurofibromatosis: A Case Report

Introduction

Neurofibromatosis (NF) disease is an autosomal dominant neurocutaneous condition that is constituted by a set of clinical symptoms which compromise the dermal, nervous, ocular, cardiovascular, orthopaedic systems and other sites in the human body. It is classified into two distinct types, Neurofibromatosis 1 (NF-1) and Neurofibromatosis 2 (NF-2).¹

NF-1 in the spinal canal appears as dumbbell formation leading to local spinal compression due to its attachment to the extra medullary part of the surrounding tissues, and commonly presents in patients as radicular pain, dysthesia and signs of compressive myelopathy.²

Best practice guidelines for interdisciplinary rehabilitation in individuals with NF-1 have not been identified in research. To the authors knowledge, no studies have been published stating the benefits of interdisciplinary team rehabilitation by setting realistic goals for patients with NF-1. This underpins the need for Interdisciplinary rehabilitation in NF-1.^3,4

Case Presentation

A 23-year-old male, pursuing Master’s degree in Social Work (MSW) presented with weakness in his upper limbs and, difficulty in conducting activities with hands. This presented with gradual onset and later progressed to experiencing difficulty in walking. On consultation with neurosurgeon and through Magnetic Resonance Imaging (MRI), multiple dumbbell shaped, homogenously enhancing extra medullary extradural lesions were found all along the spine, extending across causing widening of neural foramen at all levels. Neurofibromas were observed at the cervical level of C2-C4 causing significant compression and deformation, for which the patient underwent laminectomy and decompression surgery from C2 to C5 levels. After surgery, he was referred to our interdisciplinary rehabilitation team comprising of Physiotherapist, Occupational therapist, Speech and language therapist, MSW worker, Clinical psychologist and Rehabilitation nurse. On detailed evaluation by the team, it was noted that the patient was totally dependent on family members for his Activities of daily living (ADL) and was depressed about his condition. His present complaints were bilateral lower limb stiffness, weakness of bilateral upper limbs, lower limbs, impaired sensation below neck, bladder and bowel incontinence and complete dependency in all activities of daily living.

Other relevant findings were, patient was dependent on wheel chair for his ambulation. Pulmonary function test (PFT) trail on admission could not be completed even up to the base line value, even though his predicted Forced Expiratory Volume 1 Second FEV1/Predicted was 26%.

Muscle tone according to Modified Ashworth scale was Grade 1 in bilateral biceps and triceps, Grade 2 in bilateral hamstrings and Grade 3 in bilateral gastrocnemius and soleus. Sensory examinations of all the superficial senses (pain, touch and temperature) were found altered from C3 level caudally. Manual muscle testing according to Kendall Grading was 2 in shoulder muscles (flexor, extensors, abductors and adductors) bilaterally. Elbow and wrist flexors and extensors were grade 2 and handgrip strength measured by using JAMMR (MFID 5030J1) dynamometer for grip and pinch meter (MFID- 081504265) for pinch strength measured in elbow positioned at 45 degrees of flexion showed 12.2 kilograms, while tip, palmar and key pinch strength showed 1.1, 1.6 and 1.81 kilograms. Independent sitting balance without support on bed was for maximum of six seconds. Spinal Cord Independence Measure (SCIM- Version III) which addresses specific areas of function in spinal cord injured individuals was scored zero in transfers-bed to wheel chair, toilet, bath bench, wheel chair locomotion-mobility. Patient was catheterized and was using adult diapers for managing bowel movements. All these assessments were done by a physiotherapist.

Occupational therapist reported that patient was dependent on family members for eating, upper and lower body dressing, grooming, eating, bathing and toileting. The clinical psychologist, during interaction with the family noted that patient had mood swings and was depressed about his condition. On application of Beck Depression Inventory, it was noted that the patient had a score of 19, indicating borderline clinical depression. Speech and language specialist noted that patient had low pitch volume and was unable to speak for long time, while no issues were noted with intelligibility of speech.

A family conference was done to know their goals. Patient stated goal was to improve his upper body strength, to be able to stand and walk, and do his daily activities independently, without any support or assistance.

Interdisciplinary team made a plan of care to synthesize the information on findings and reach the consensus regarding goal and treatment for the patient. The team members framed the following goals for the patient.

1. To improve his upper limb functional strength to modified independence by using adaptive aids for self-care activities.
2. To teach the patient to transfer himself from wheel chair to bed, toilet and bath bench and the family members to assist for the same.
3. Use of motorized wheelchair for ambulation.
4. Family and caretaker education program regarding adherence to exercise protocol.

Rehabilitation program from Day 1-40 is presented in Table 1 with reassessment findings at day 20, and day 40.

Discussion

The rehabilitation of NF-1 is challenging as it does not demonstrate the same predictable clinical features in the patients, differing for each case. There is a dearth of evidence on interdisciplinary management of NF-1 and the present case was rare with the level of decompression at C2 - C5 area.

Improvement was noted in domains of self-care, transfers, muscular strength, respiratory function and also psychologically. The patient at the initial stage was dependent for all the functional activities and was not given opportunity by his family to perform any work, though he was willing and able to do so. This was informed to the family members and were advised to allow the patient to participate in the activities. The patient was reported to have mood swings and was depressed about his condition, for which recreation therapy was planned in the form of blowing candles and balloons. This also assisted the patient in improving the vital capacity. Addition of Respirometer, diaphragmatic breathing and lastly with added weights, vital capacity showed improvement.

The overall improvement observed could be due to the systematic approach adopted involving all the disciplines, with clear set goals and efforts from the patient. It was reported in multiple studies that the interdisciplinary rehabilitation is more effective in achieving a positive output for the patient when compared to single discipline management.⁸

Improvement in self-care was noted in upper body dressing, grooming, and eating, due to modification in the adaptive aids and patient’s acceptance of the same. One of the goals stated by the patient was walking independently, which was modified by the team to walk with assistance in indoors, and this was achieved within six weeks. This would have been achieved as the lesion was incomplete.⁸

An interdisciplinary rehabilitation approach helped the patient to achieve his modified goals and was able to carry his functional activities to a greater extent independently with assistance after six weeks.

Hereby we conclude that, interdisciplinary rehabilitation approach plays a vital role in the management of NF-1 patients. If the NF-1 is involving the spinal level in cervical area, it will have a major impact on functional status of the individual. To set a goal, it is always important to know the demands of the patient and the need to modify the same if not realistic in nature. An aggressive interdisciplinary program will have a positive impact on patient’s functional outcome.

Conflict of interest

None