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NEUROIMAGE
Year : 2020  |  Volume : 68  |  Issue : 1  |  Page : 236-237

Multiple Bilateral Spinal Neurofibromas in an Adult with Nonfamilial NF‑1


Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India

Date of Web Publication28-Feb-2020

Correspondence Address:
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
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.279690

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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

How to cite this URL:
Agrawal M, Borkar SA. Multiple Bilateral Spinal Neurofibromas in an Adult with Nonfamilial NF‑1. Neurol India [serial online] 2020 [cited 2020 Mar 31];68:236-7. Available from: http://www.neurologyindia.com/text.asp?2020/68/1/236/279690




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.[1] 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).[2],[3] 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.[4]

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.[5] 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.[6] Surgical intervention is reserved only for the most severe cases causing neurological deficits.[7],[8] 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.[4]

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

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
National Institutes of Health consensus Development Conference Neurofibromatosis: Conference statement. Arch Neurol 1988;45:575-8.  Back to cited text no. 1
    
2.
Upadhyaya M, Spurlock G, Kluwe L, Chuzhanova N, Bennett E, Thomas N, et al. The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas. Neurogenetics 2009;10:251-63.  Back to cited text no. 2
    
3.
Wimmer K, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, et al. A patient severely affected by spinal neurfibromas carries a recurrent splice site mutation in the F1 gene. Eur J Hum Genet 2002;10:334-8.  Back to cited text no. 3
    
4.
Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velazquez-Fragua R, López-Gutierrez JC. Bilateral spinal neurofibromas in patients with neurofibromatosis 1. Brain Dev 2012;34:563-9.  Back to cited text no. 4
    
5.
Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D'Orazi V, et al. The natural history of spinal neurofibromatosis: A critical review of clinical and genetic features. Clin Genet 2015;87:401-10.  Back to cited text no. 5
    
6.
Singh SK, Mankotia DS, Borkar SA, Gupta UD. Multiple mirror image cervical neurofibromas in neurofibromatosis type 1. Neurol India 2017;65:428-9.  Back to cited text no. 6
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7.
Bigder M, Szelemej P, Berrington N. Extensive mirror-image neurofibromas of entire spine resulting in spastic tetraplegia. World Neurosurg 2017;108:985.e7-8.  Back to cited text no. 7
    
8.
Pandey S, Singh K, Sharma V, Tabish Khan M, Ghosh A, Santhosh D. Bilateral mirror image cervical neurofibroma in an adult with neurofibromatosis type 1. Malays J Med Sci 2017;24:117-20.  Back to cited text no. 8
    


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