|Year : 2019 | Volume
| Issue : 1 | Page : 39-41
Multiple spinal neurofibromas
Kodeeswaran Marappan, Prabhu Marudamuthu, Sherina Paul Raj
Department of Neurology and Neurosurgery, Apollo First Med Hospitals, Chennai, Tamil Nadu, India
|Date of Web Publication||11-Mar-2019|
No 3, Nanda Nikethan, 10, Valliammal Street, Kilpauk, Chennai - 600 010, Tamil Nadu
Source of Support: None, Conflict of Interest: None
A 55-year-old male, with a 2-month history of urinary incontinence, a suspected case of pyelonephritis was initially treated by a nephrologist, but with no relief in spite of medication. On further evaluation, he was found to have a history of back pain, progressive bilateral weakness of lower extremities, and difficulty walking. He was thus referred to us for further management. Magnetic resonance imaging (MRI) of the spine was done, which revealed the presence of multiple bilateral dumbbell-shaped lesions at multiple spinal levels, associated with widening of the neural foramina of the cervical, dorsal, and lumbar regions. Surgical excision of all lesions was done in a single sitting. The patient had postoperative weakness and urinary incontinence, which slowly recovered and weakness gradually improved by physiotherapy. On follow-up, the patient was able to walk without any weakness. Surgical excision is the treatment of choice for spinal neurofibromatosis. Diagnosis of the condition may be difficult due to the lack of symptoms in majority of the cases or presentation with rare symptoms. However, it is recommended that a routine MRI of the spine be performed in patients with a history of urinary incontinence associated with weakness of limbs.
Keywords: Multiple neurofibromas, neurofibromatosis, spinal neurofibromas, urinary incontinence
|How to cite this article:|
Marappan K, Marudamuthu P, Raj SP. Multiple spinal neurofibromas. Apollo Med 2019;16:39-41
| Introduction|| |
Neurofibromas (NFs), also known as nerve tumors, are noncancerous and can grow on nerves throughout the body. They are of three major types: cutaneous, spinal, and plexiform.
- Cutaneous NFs are also called discrete NFs. These grow from small nerves in the skin or just under the skin and appear as small bumps usually beginning around the time of puberty. Except for the cosmetic concern, these tumors do not possess any risk. They remain benign throughout the life
- Plexiform NFs may grow anywhere in the body and are commonly seen in children. They may even be present at birth. These tumors tend to become malignant and change into cancer. Hence, these patients require close watch
- Spinal Neurofibroma (SNFs) are larger tumors and grow along the nerves along the spinal column. Usually, they are asymptomatic. However, at times, patients with multiple spinal NFs may experience back pain, progressive weakness of legs, numbness, and difficulty walking.
A rare case in which our patient presented with symptoms of urinary incontinence has been described.
| Case Report|| |
A 55-year-old male reported at the neurosurgery outpatient department, with a 2-month history of back pain, progressive weakness of leg, and difficulty walking. He presented with the chief complaint of urinary incontinence. He was first evaluated and treated by the nephrologist, as a suspected case of pyelonephritis. Due to the persistence of symptoms, he was then referred to us for further management. Neurological examination of the patient showed decreased motor strength in the lower extremity and gait changes. Magnetic resonance imaging (MRI) was done. Multiple paraspinal nerve sheath tumors were found on either side, at multiple spinal levels [Figure 1]. Intracranially, it was seen that the cranial nerves were unaffected and no masses were demonstrated. Cutaneous NFs were absent, and the lesions in other parts of the body such as knee and hips were ruled out. The patient did not report any family history of NF, brain, or spine tumor, or other osseous lesions. He did not have any other comorbidities such as diabetes and hypertension, and was not under any medication.
|Figure 1: Preoperative computed tomography image showing spinal neurofibromas at multiple levels (arrow)|
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Laminectomy and excision of space-occupying lesions (SOLs) at three levels was performed under general anesthesia. Intraoperative findings included intradural extramedullary SOL present at cervical, dorsal, and lumbar levels (C7–D1, D6–D7, L2–L3). Histopathology confirmed the nature of the excised tissue as benign NF. [Figure 2] shows the postoperative CT image in the same patient. Thereafter, the patient gradually recovered and was able to regain strength in his lower extremities. Urinary incontinence subsided and other symptoms significantly improved on follow-up.
| Discussion|| |
Neurofibromatosis is a congenital and familial disease presenting with abnormalities of the skin, nervous system, bones, and soft tissues. About 60% of neurofibromatosis patients present with the skeletal lesion, most of them associated with spinal deformities. However, isolated spinal neurofibromatosis (SNF) has been considered to be another form of neurofibromatosis and was initially noted to be present in only 5% of the NF1 cases. However, this trend has recently changed and a study by Poyhonen et al. in 1997 demonstrated the presence of SNF in 36% of the NF1 patients studied. Nevertheless, only 7% of them exhibited clinical features of spinal neurofibromatosis.
SNF is characterized by the presence of multiple benign spinal cord tumors and may or may not be associated with other features of neurofibromatosis such as café au lait spots and cutaneous lesions. Most of the time, they are asymptomatic. However, some cases present with symptoms of spinal nerve compression, as seen in our case. Urinary incontinence is, however, observed only in severe cases of spinal nerve compression. However, in our case, the patient has presented with early symptoms of urge incontinence, associated with bilateral limb weakness and back pain.
Typical MRI features of spinal neurofibromatosis include bilateral intradural extramedullary masses, at multiple spinal segments, corresponding to NFs. Some of these masses are dumbbell-shaped and have both intra- and extradural components, with a large extraspinal component that may result in foraminal enlargement. In our case, intradural extramedullary SOL was observed.
The treatment of choice for patients with symptomatic SNF involves laminectomy and excision of lesions. Symptoms of spinal cord NFs are usually subtle and slowly progressive; urinary incontinence can be one of the few rare symptoms that the condition may present with. A prompt identification and early surgical intervention allow optimal outcome. Hence, it is recommended that a routine MRI of the spine be performed in patients suspected to have neurofibromatosis, irrespective of the presence or absence of symptoms.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Hunt JC, Pugh DG. Skeletal lesions in neurofibromatosis. Radiology 1961;76:1-20.
Poyhonen M, Leisti EL, Kytölä S, Leisti J. Hereditary spinal neurofibromatosis: A rare form of NF1? J Med Genet 1997;34:184-7.
[Figure 1], [Figure 2]