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|Year : 2020 | Volume
| Issue : 1 | Page : 236-237
Multiple Bilateral Spinal Neurofibromas in an Adult with Nonfamilial NF‑1
Mohit Agrawal, Sachin Anil Borkar
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
|Date of Web Publication||28-Feb-2020|
Dr. Sachin Anil Borkar
Department of Neurosurgery and Gamma Knife, Room No. 714, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi - 110 029
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Agrawal M, Borkar SA. Multiple Bilateral Spinal Neurofibromas in an Adult with Nonfamilial NF‑1. Neurol India 2020;68:236-7
A 29-year-old male, a known case of nonfamilial NF-1, presented with complaint of weakness of both hands for the past 4 months. There were multiple subcutaneous nodules present over the body, with no family history of similar features. On examination, power in both upper limbs was 4/5 and both lower limbs 5/5 on the Medical Research Council Scale, with increased tone, exaggerated reflexes and graded sensory loss below C2 dermatome. MRI demonstrated multiple tumors compressing the cervical cord at various levels [Figure 1]a, with enlargement of neural foramina of the dorsal spine [Figure 1]b. There were well-defined bilateral symmetric “tuber-like” (inset) neurofibromas involving the lumbar [Figure 1]c and [Figure 1]d spine and paraspinal soft tissue. He had been advised surgery for the cranial most tumor causing his symptoms and cautioned to the need for further surgery later. He refused any surgery at the time. At 21 months follow-up, there had been no neurological decline. This case highlights the importance of regular long-term follow-up in patients of multiple neurofibromas who can remain asymptomatic until well into adulthood.
|Figure 1: MRI demonstrates multiple tumors compressing the cervical cord at various levels (a), with enlargement of neural foramina of cervico dorsal spine (b). There were well-defined bilateral symmetric “tuber-like” (inset) neurofibromas involving the lumbar (c and d) spine and paraspinal soft tissue|
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Neurofibromatosis type-1 (NF-1) is an autosomal dominant disorder with specific clinical features including hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities, and tendency to develop neoplasms. Spinal neurofibromas can be identified in two different phenotypes of NF-1 patients: (1) classical NF-1 features and only one or few spinal tumors and (2) multiple bilateral spinal tumors but only a few NF-1 criteria (spinal neurofibromatosis)., The presence of plexiform, intra, or paraspinal neurofibromas located bilaterally in all spinal nerves from the highest cervical roots to the sacrococcygeal region in patients without family history is uncommon and they cause symptoms in less than 2% of cases.
The management of spinal neurofibromas includes a thorough general physical and neurological examination to document any deficit at the time of the first presentation. Contrast-enhanced MRI of the complete spine and brain, along with an ophthalmological examination should also be done to document the complete extent of involvement of the disease. Patients with extensive lesions might remain asymptomatic due to the extradural nature of the tumors. Examination, as well as imaging, should be repeated at serial intervals to document the progression of the disease. Patients who remain asymptomatic or those who refuse surgery should be followed up with serial imaging. Surgical intervention is reserved only for the most severe cases causing neurological deficits., The anatomical location of the tumor along with the risk of recurrence at the surgical site affects the decision regarding surgery. The risk of conversion into malignant peripheral nerve sheath tumor should be kept in mind and could be the basis to counsel removal of large tumors even while asymptomatic.
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.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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