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Journal of Craniovertebral Junction and Spine
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Year : 2019  |  Volume : 10  |  Issue : 3  |  Page : 188-191  

Atypical presentation of extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome: Case report and review of literature

1 Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

Date of Web Publication7-Nov-2019

Correspondence Address:
Dr. Subhas K Konar
Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bengaluru - 560 029, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcvjs.JCVJS_86_18

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The clinical presentation of spinal or extraspinal neurofibroma is radiculopathy or myelopathy, pain, and motor weakness. Extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome is very rare. We report the case of a 55-year-old female who presented with acute-onset monoparesis of the left upper limb along with left-side drooping of the eyelid. Imaging revealed C6–D2 extraspinal solitary mass lesion lateral to spinous process with bleed without intraspinal component. The patient underwent an anterior cervical approach and excision of the tumor. Final biopsy report was a neurofibroma. At 3-year follow-up, she recovered from motor weakness, and Horner's syndrome subsided. Extraspinal neurofibroma can present with acute bleed, and surgical outcome is superior in early intervention.

Keywords: Extraspinal, Horner's syndrome, neurofibromatosis, outcome

How to cite this article:
Nehete LS, Konar SK, Nandeesh B N, Shukla D, Devi B I. Atypical presentation of extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome: Case report and review of literature. J Craniovert Jun Spine 2019;10:188-91

How to cite this URL:
Nehete LS, Konar SK, Nandeesh B N, Shukla D, Devi B I. Atypical presentation of extraspinal neurofibroma presenting with acute-onset monoparesis and Horner's syndrome: Case report and review of literature. J Craniovert Jun Spine [serial online] 2019 [cited 2021 Jan 24];10:188-91. Available from: https://www.jcvjs.com/text.asp?2019/10/3/188/270468

   Introduction Top

Neurofibromas are nerve sheath tumors composed of Schwann cells, fibroblasts, and supporting cells termed perineurial cells. They may occur as a sporadic solitary lesion or as a manifestation of neurofibromatosis 1 (NF1).[1] They commonly present as a painless and slow-growing mass. We report the first case of NF1 with extraspinal neurofibroma presenting with acute upper-limb monoparesis and Horner's syndrome.

   Case Report Top

A 55-year-old female presented with sudden-onset neck pain associated with left upper-limb weakness and drooping of the left eyelid. Examination revealed left-sided ptosis and an anisocoria that was greater in the dark. These findings were felt to be consistent with a left Horner's syndrome. Optic discs were healthy bilaterally. Cutaneous examination revealed multiple small neurofibromas and café-au-lait spots. Motor examination showed a flaccid weakness of the left upper limb (Medical Research Council [MRC] Grade: 1/5). The remainder of the systemic examination was unremarkable, and there were no physical signs to suggest a Pancoast tumor. Our patient's mother and brother also had multiple subcutaneous nodules.

Our differential was left apical Pancoast tumor or brachial plexopathy. There was no history of breathlessness, cough, or hemoptysis to suggest apical lung tumor. X-ray chest was normal. There was no history of preceding trauma or fever, which may be responsible for brachial plexopathy.

Magnetic resonance imaging (MRI) (T1-weighted [T1W]) showed a clearly demarcated tumor with bleed [Figure 1]a, lateral to the spinous process of C6-D2 vertebrae on the left side. MRI (T2W) images showed a lesion abutting the left subclavian artery [Figure 1]b and [Figure 1]c. Computed tomography (CT) cervical spine showed scalloping of the transverse processes but no enlargement of neural foramina [Figure 1]d. Contrast study revealed peripheral enhancement and no intraspinal extension [Figure 1]e and [Figure 1]f. After appropriate counseling and workup, the patient was offered anterior surgery. Anterior cervical approach and excision of the lesion were done. A transverse skin incision was made 1 cm above the clavicle. After subplatysmal dissection, sternocleidomastoid muscle and inferior omohyoid muscles were seen and retracted. The carotid sheath was identified and retracted laterally. The tumor was seen beneath the prevertebral fascia. Initially, internal decompression was performed, and while dissecting the tumor from the surrounding blood vessels at the inferior pole, the left subclavian artery was injured at the origin of the left vertebral artery. Bleeding was controlled with an angled vascular clip. After achieving hemostasis, the entire capsule was excised. Intraoperatively, the lesion was mildly vascular, firm, and grayish with areas of bleed. Detailed histological examination [Figure 2]c of the excised mass was suggestive of neurofibroma with large areas of fresh hemorrhage and fibrin deposition in a tumor. Postoperative angiogram [Figure 2]a and [Figure 2]b showed good filling of the distal subclavian artery and partial filling of the left first (V1) and second (V2) segments of the vertebral artery. The distal vertebral artery was filled by the right vertebral artery. The patient made a good recovery from the operative procedure. At 3-year follow-up, she has complete recovery of motor power except for minimal shoulder abduction weakness (MRC: 4+/5), and Horner's syndrome subsided. After her spine surgery, the patient underwent an orthopedic surgery for long-bone fracture, and metal implants were placed. Henceforth, the MRI scan was not possible. She was evaluated with CT spine (plain + contrast). CT scan showed complete excision of the tumor and vascular clip in situ [Figure 3]a and [Figure 3]b.
Figure 1: (a) Magnetic resonance imaging (T1 weighted, Sag) showing a solitary lesion adjacent to C6–D2 spinous process, periphery, and lower-part hyperintensity suggestive of bleed. (b) Magnetic resonance imaging (T2 weighted, Cor) showing superoinferior extent (C6–D2) and lower margin abutting the left subclavian artery. (c) Magnetic resonance imaging (T2-weighted, axial) showing extraspinal location with central–posterior hypointensity. (d) Computed tomography, axial, showing erosion of part of transverse process. (e) Magnetic resonance imaging (T1-weighted, contrast) showing peripheral enhancement with central nonenhancing part. (f) Magnetic resonance imaging (T1-weighted, contrast) showing no intraspinal extension

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Figure 2: (a) Digital subtraction angiography subclavian injection showing distal filling. (b) Digital subtraction angiography right vertebral injection showing proximal filling of the left vertebral artery. (c) Histopathological examination: (H and E, ×200): microphotograph showing a loose hypocellular spindle cell neoplasm with wavy nuclei and myxoid change. The neoplasm is highly vascular with fibrin deposits. The features are suggestive of neurofibroma

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Figure 3: (a) Computed tomography spine (axial, contrast) showing complete excision of the tumor. (b) Computed tomography spine (axial, bone window) showing vascular clip in situ

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   Discussion Top

Among the paraspinal neurofibromas, 72% were with intradural extramedullary localization, whereas 14% were with extradural, 13% were with both intraspinal and extraspinal components, and 1% was with intramedullary localizations.[2] A detailed history may reveal familial neurocutaneous syndromes that predispose the patient to tumor development. This patient had multiple subcutaneous neurofibromas, café-au-lait spots, and a family history of NF in first-degree relatives, satisfying the diagnostic criteria for NF.[1] The patient in the present study had presented with sudden-onset neck pain associated with left upper-limb weakness and drooping of the left eyelid. Upper-limb weakness can possibly be explained by the mass effect of a tumor on the ventral roots forming the brachial plexus.

The mechanism of Horner's syndrome in this patient could be due to the sudden increase in the size of the tumor due to bleed, causing mass effect on the ascending second-order neuron from the ciliospinal center of Budge–Waller to superior cervical ganglia. In the past, few cases[3],[4],[5],[6],[7] of Horner's syndrome in patients with NF have been reported, which are summarized in [Table 1].
Table 1: Literature review and index case of neurofibromatosis presented with Horner's syndrome

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A hemorrhagic complication in neurofibroma or schwannoma is uncommon, which may be seen either at operation or following trauma.[8] Acute hemorrhage following minor trauma may occur due to the increased vascular fragility of the dysplastic vessels associated with the neurofibroma[9] or vascular invasion by the tumor.[10] Furthermore, Schwann cells have angiogenic potential which may contribute to the hypervascularity of tumor. Various factors such as angiogenin, transforming growth factors α and β, epidermal growth factor, fibroblast growth factors, and acidic and basic fibroblast growth factors have been described for angiogenesis.[11]

The literature review showed extraspinal neurofibroma presenting as acute-onset monoparesis, and Horner's syndrome is not reported yet. In the past, acute-onset paraplegia or quadriplegia due to bleed in the schwannoma has been reported.[12],[13]

   Conclusion Top

An extraspinal neurofibroma presenting with sudden-onset monoparesis and Horner's syndrome is very rare. Acute hemorrhage within the tumor may probably be the reason for acute presentation. Prompt evaluation and surgery is the goal in this rare type of cases.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-8.  Back to cited text no. 1
Kumar SA, Kumar M, Malgonde M. Dumbbell-shaped neurofibroma of the upper thoracic spine: A case report. South Asian J Cancer 2013;2:226.  Back to cited text no. 2
[PUBMED]  [Full text]  
Cackett P, Vallance J, Bennett H. Neurofibromatosis type 1 presenting with Horner's syndrome. Eye (Lond) 2005;19:351-3.  Back to cited text no. 3
Lee JH, Jeen YM, Kang SG, Tark MS, Kim CH. Horner syndrome in neurofibromatosis type 1. J Craniofac Surg 2015;26:165-6.  Back to cited text no. 4
Basuthakur S, Sengupta A, Bandyopadhyay A, Banerjee A. Malignant peripheral nerve sheath tumour presenting with Horner's syndrome. J Assoc Physicians India 2013;61:661-3.  Back to cited text no. 5
Ruckley RW, Blair RL. Neurofibroma of the cervical sympathetic chain presenting with Horner's syndrome. J Laryngol Otol 1986;100:1433-6.  Back to cited text no. 6
Oguz F, Altınel Z, Calıskan M, Sıdal M, Alper G, Ozek MM, et al. Acase of segmental neurofibromatosis presented with Horner syndrome. Turk Pediatr Ars 1993;28.  Back to cited text no. 7
Francis DM, Mackie W. Life-threatening haemorrhage in patients with neurofibromatosis. Aust N Z J Surg 1987;57:679-82.  Back to cited text no. 8
Yang L, Robertson T, Tollesson G, Francis L, Campbell D, Winter C, et al. An unusual presentation of a solitary benign giant neurofibroma. Case report. J Neurosurg Spine 2009;11:49-52.  Back to cited text no. 9
Kashyap RR, Gogineni SB. Hypervascular neurofibromas in a case of neurofibromatosis type 1 – A case report. J Clin Exp Dent 2011;3 Suppl 1:356-9.  Back to cited text no. 10
Sheela S, Riccardi VM, Ratner N. Angiogenic and invasive properties of neurofibroma Schwann cells. J Cell Biol 1990;111:645-53.  Back to cited text no. 11
Huang KM, Leung JH, Huang KC, Tung CL, Huang CL, Huang KM. A long Segmental hemorrhagic spinal schwannoma with atypical presentation. JRadiol Sci 2011;36:191-4.  Back to cited text no. 12
Sahoo RK, Das PB, Sarangi GS, Mohanty S. Acute hemorrhage within intradural extramedullary schwannoma in cervical spine presenting with quadriparesis. J Craniovertebr Junction Spine 2015;6:83-5.  Back to cited text no. 13


  [Figure 1], [Figure 2], [Figure 3]

  [Table 1]


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