Case Connector | Spondyloptosis of the Cervical Spine in a Patient with Neurofibromatosis Type 1: A Case Report and Review of the Literature

Case Reports | January 09, 2013

Spondyloptosis of the Cervical Spine in a Patient with Neurofibromatosis Type 1: A Case Report and Review of the Literature

Senthil T. Nathan, MD¹; Francesco T. Mangano, DO¹; Alvin H. Crawford, MD¹

¹ Divisions of Orthopaedic Surgery (S.T.N. and A.H.C.) and Pediatric Neurosurgery (F.T.M.), Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, MLC 2017, Cincinnati, OH 45229-3039. E-mail address for S.T. Nathan: senorth2002@yahoo.co.in

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Investigation performed at the Divisions of Orthopaedic Surgery and Pediatric Neurosurgery, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio

Disclosure: None of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of any aspect of this work. None of the authors, or their institution(s), have had any financial relationship, in the thirty-six months prior to submission of this work, with any entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. Also, no author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by authors are always provided with the online version of the article.

JBJS Case Connector, 2013 Jan 09;3(1):e5 1-7. doi: 10.2106/JBJS.CC.L.00135

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Extract

Kyphotic deformities of the cervical spine in patients with neurofibromatosis type 1 (NF-1) have received little attention because of their low incidence and the presence of coexisting thoracic or thoracolumbar spine deformities^1-3. To the best of our knowledge, there are few cases (Table I) of severe cervical kyphosis (>90°) in a patient with NF-1 that have been reported in the literature^4-7. We present the case of an adolescent who was referred to our NF-1 clinic for a progressive cervical kyphosis (130°) with no neurologic deficits. There was radiographic evidence of a C2-C3 intramedullary spinal cord tumor (IMSCT) with extensive cervical plexiform neurofibromas with intraspinal encroachment. The patient and his parents were informed that data regarding this case would be submitted for publication, and they provided consent.

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Introduction

Introduction | Case Report | Discussion | Acknowledgements

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TABLE I Cases in the Literature of Severe Cervical Kyphosis (>90°) in Patients with Neurofibromatosis Type 1

Reference	No. of Patients	Age (yr)	Kyphosis (deg)	Anterior Vertebral Wedging	Anterolisthesis/Spondyloptosis	Dural Ectasia	Plexiform Neurofibroma
Craig and Govender⁴	5	18-36	94-110	*	*	*	3 of the 5 patients
Kokubun et al.⁷	1	29	100	*	*	*	*
Haddad et al.⁶	1	41	97	*	*	*	*
Goffin and Grob⁵	1	41	100	*	*	*	*
Our case	1	12	130	*	*	*	*

*Feature is present.

TABLE I Cases in the Literature of Severe Cervical Kyphosis (>90°) in Patients with Neurofibromatosis Type 1

Reference	No. of Patients	Age (yr)	Kyphosis (deg)	Anterior Vertebral Wedging	Anterolisthesis/Spondyloptosis	Dural Ectasia	Plexiform Neurofibroma
Craig and Govender⁴	5	18-36	94-110	*	*	*	3 of the 5 patients
Kokubun et al.⁷	1	29	100	*	*	*	*
Haddad et al.⁶	1	41	97	*	*	*	*
Goffin and Grob⁵	1	41	100	*	*	*	*
Our case	1	12	130	*	*	*	*

*Feature is present.

Case Report

Introduction | Case Report | Discussion | Acknowledgements

An eleven-year-old boy with NF-1 was referred to our institution with a history of severe cervical kyphosis. Progressively worsening neck pain was present, although there were no symptoms of weakness, numbness or tingling sensation, or bladder and bowel incontinence. Physical examination revealed multiple café-au-lait spots, plexiform neurofibromas in the region of the cervical spine, axillary and inguinal freckles, and substantial cervical kyphosis with no neurological deficit. Radiographs of the cervical spine revealed a kyphosis of 87° (Figs. 1-A and 1-B). Magnetic resonance imaging (MRI) revealed an IMSCT at C2-C3 and large paraspinal plexiform neurofibromas involving the right-sided nerve roots of the cervical spine that extended to T2 with an intraspinal extension from C3-C6, dural ectasia, and focal kyphosis (Figs. 2-A and 2-B). Based on the clinical examination and imaging studies, we recommended intervention. However, the patient was not able to return for the treatment for one year.

Fig. 1

Anteroposterior (Fig. 1-A) and lateral (Fig. 1-B) radiographs of the cervical spine at initial presentation show a short angular cervical kyphosis of 87°.

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Fig. 2

Preoperative sagittal (Fig. 2-A) and axial (Fig. 2-B) MRIs show the large plexiform neurofibromas along with the intradural intramedullary spinal cord tumor. (Fig. 2-A reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1065.)

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On physical examination one year after the initial presentation, the patient had a fixed chin-on-chest deformity with no neurological deficit. Radiographs confirmed the clinical findings with evidence of spondyloptosis of the cervical vertebra (Figs. 3-A and 3-B), resulting in a severe kyphosis (130°) with no change in the dynamic views of the spine (Figs. 4-A and 4-B).

Fig. 3

Preoperative anteroposterior (Fig. 3-A) and lateral (Fig. 3-B) radiographs of the cervical spine approximately one year after initial presentation show a cervical kyphosis of 130° with anterior wedging of the vertebral body, a spondyloptosis of the C3 over the C4 vertebral body, and a chin-on-chest deformity. (Fig. 3-B reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1065.)

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Fig. 4

Preoperative dynamic flexion (Fig. 4-A) and extension (Fig. 4-B) radiographic views of the cervical spine show no flexibility of the cervical kyphosis. (Figs. 4-A and 4-B reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1065.)

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The patient was placed in halo-femoral traction with progressive weight-loading on a Stryker frame for two weeks. Substantial correction was achieved with the halo-femoral traction (Fig. 5). We performed a posterior laminectomy and resection of the intradural IMSCT, followed by a five-level laminectomy from C2-C6. Intraoperative ultrasound was used to delineate the superior and inferior margins of the intramedullary spinal cord tumor. Once the margins were identified, a midline durotomy was performed. The cord was found to be expanded and kyphotic (Fig. 6-A). We used somatosensory evoked potentials to locate the midline, which correlated with the location of the dorsal vein. Transcranial motor and somatosensory evoked potentials were used throughout the procedure. After identifying the extent of the IMSCT, we resected the intradural extramedullary extension of the plexiform neurofibromas that were causing substantial spinal cord compression. Then, a midline myelotomy was made to expose the IMSCT (Fig. 6-B). After careful dissection with plated bayonets, we were able to delineate the spinal cord from the tumor. The frozen-section analysis of the biopsy reported a grade-I glioma. The tumor was resected with use of a combination of an ultrasonic surgical tip that works based on shear stress (CUSA; Integra Spine, Medina, Ohio) and a suction bipolar technique under microscopic guidance (Fig. 6-C). A repeat intraoperative ultrasound of the spinal cord was performed to confirm the complete removal of the tumor. The dura was closed with use of 5-0 HEMO-SEAL (Johnson & Johnson, New Brunswick, New Jersey) suture and small amounts of Tisseel (Baxter, Deerfield, Illinois). The wound was closed in layers, and the patient was continued on halo-femoral traction.

Fig. 5

Lateral radiograph shows the substantial correction of the kyphosis (180°) that was achieved with use of halo-femoral traction. (Reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1066.)

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Fig. 6

Figs. 6-A through 6-D Intraoperative exposure for removal of the intradural intramedullary spinal cord tumor. Durotomy (Fig. 6-A) and myelotomy (Fig. 6-B) exposing the intramedullary tumor (Fig. 6-C) and placement of bone graft (Fig. 6-D) after removal of the tumor. Note the nonabsorbable sutures securing the fibulae to the rods. (Figs. 6-B and 6-D reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1066.)

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Five days after tumor resection, the patient underwent posterior occipitothoracic fusion. The spine was exposed through the midline incision from the occiput to the upper thoracic spine (T4), and care was taken to prevent injury to the dura. An occipital plate-and-rod system was used to stabilize the occiput to the thoracic spine. Autologous fibular graft was harvested and used to bridge the previous area of the wide laminectomies. The fibular grafts were notched so that nonabsorbable sutures could be used to secure the fibulae to the rods (Fig. 6-D). Autologous grafts along with cancellous allograft and bone morphogenetic protein (BMP-2) collagen sponges were placed between the occiput and thoracic spine over the fibular constructs, and the patient was placed in a halo vest (Figs. 7-A and 7-B). There were no changes in the somatosensory evoked potentials during either procedure. The patient was discharged home on the twenty-third postoperative day after a short stay in the rehabilitation unit, and it was recommended that he continue to use the halo vest for six months. After discontinuing the halo vest, a sternal-occipital-mandibular immobilizer brace was used until the anterior surgery. He had adjuvant chemotherapy for the low-grade glioma for eighteen months. The reason we chose a staged procedure was because of the presence of a large plexiform tumor at the site of the anterior incision and the desire of the oncologist to proceed with chemotherapy to possibly decrease the size of the tumor mass.

Fig. 7

Immediate postoperative anteroposterior (Fig. 7-A) and lateral (Fig. 7-B) radiographs show the correction of kyphosis through the posterior occipitothoracic fusion with placement of the fibular autograft and halo vest.

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Given the concern that the patient might collapse anteriorly and place the posterior fusion at risk with the inherent risk for neurologic dysfunction, we decided to decompress and fuse the anterior cervical spine (Figs. 8-A and 8-B). Two years after the posterior surgery, the patient underwent multiple anterior cervical corpectomies as well as a fusion from C2-C6 with fibular autograft and resorbable plate osteosynthesis to further stabilize the cervical spine (Figs. 9-A and 9-B).

Fig. 8

Anteroposterior (Fig. 8-A) and lateral (Fig. 8-B) radiographs of the cervical spine with a sternal-occipital-mandibular immobilizer brace two years after the posterior surgery show severe osteopenia and anterior cervical vertebral body resorption.

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Fig. 9

Postoperative anteroposterior (Fig. 9-A) and lateral (Fig. 9-B) radiographs after the anterior surgery show the anterior cervical fusion with the fibular autograft and resorbable plates as well as the posterior cervical fusion with correction of the kyphosis.

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Because of the altered anatomical configuration of the spine and the adherence of the dura to the osseous anatomy, we encountered a dural tear during the anterior exposure. DuraGen (Integra Spine) was used to seal the leak, and a lumbar drain was placed. Following the anterior procedure, the patient was placed in a Minerva brace for a period of four months. At the latest follow-up three years after the posterior surgery and one year after the anterior surgery, the patient was asymptomatic, and the most recent radiographs showed no evidence of pseudarthrosis or recurrence of the IMSCT (Figs. 10-A and 10-B). There was an 84% correction of kyphosis and an 80% correction of scoliosis.

Fig. 10

Preoperative (Fig. 10-A) and three-year postoperative (Fig. 10-B) lateral radiographs of the cervical spine. No junctional problems were noted. (Fig. 10-B reproduced, with permission, from Crawford AH, Gabriel KR. Dysplastic scoliosis: neurofibromatosis spinal pathology. In: Bridwell KH, DeWald RL, editors. The textbook of spinal surgery. 3rd ed. Philadelphia: Wolters Kluwer; 2011, p.1066.)

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Discussion

Introduction | Case Report | Discussion | Acknowledgements

Deformity of the spine is very common in patients with NF-1; however, the presence of severe cervical kyphosis has rarely been reported (Table I)^3-7. Kyphotic deformities associated with NF-1 are progressive and may be associated with myelopathy^2-4,8. The presence of plexiform neurofibromas results in severe structural abnormalities in adjacent tissue and in the osseous anatomy as well⁸.

Craig and Govender reported on five patients with a kyphosis of more than 90°⁴. Kokubun et al. described a twenty-nine-year-old woman with a cervical kyphosis of 100° and neck pain⁷. Haddad et al. reported on a forty-one-year-old man with a cervical kyphosis of 97° who presented with neck pain⁶. Goffin and Grob described a forty-one-year-old woman with a history of left-sided brachialgia with pyramidal signs⁵. Our patient had no neurological deficit, and imaging studies showed angular kyphosis with anterior vertebral body wedging, spondyloptosis of the C3 over the C4 vertebra, and an IMSCT. To our knowledge, this patient is the youngest who has been reported with spondyloptosis of the cervical spine (Table I).

Kyphoscoliosis and/or scoliosis of the thoracic or thoracolumbar spine are usually the major types of spinal deformities in patients with NF-1^1,8,9. Definitive features have been described for dystrophic curves of the thoracic and thoracolumbar spine in neurofibromatosis⁹. However, no clear delineation of the dystrophic features in the cervical spine of patients with NF-1 has been described.

Multiple aspects concerning the surgical management of patients with severe cervical kyphosis and plexiform neurofibroma are challenging. Our initial plan of an anterior procedure followed by a posterior procedure had to be abandoned because of the severe chin-on-chest deformity in our patient. In the presence of extensive plexiform neurofibroma, the risk of substantial blood loss exists as a result of the hypervascularity of the plexiform tumor and the associated vascular anomalies.

Our preference is to perform laminoplasty for exposure and resection of IMSCTs. In our patient, the deformed vertebrae secondary to the adjacent tumors with loss of lateral masses and attenuated dysplastic deformed laminae precluded laminoplasty. We used autologous fibular graft and BMP-2 across the resected region of the spine, along with instrumentation from the occiput to the thoracic spine. Only one case of tumor stimulation with the use of BMP has been reported in a patient with NF-1; no clear association between tumor and use of BMP could be found¹⁰. BMP as an adjunct to bone-healing is currently considered by some to be the best treatment of tibial pseudarthrosis in congenital tibial dysplasia¹¹. Our patient subsequently underwent an anterior fusion with use of an autologous fibular graft along with resorbable plates and screws to provide adequate biomechanical support to the construct. We felt that a circumferential fusion was mandatory to achieve long-term spinal stability.

We report a rare case of spondyloptosis of the cervical spine with a kyphosis of 130° with an IMSCT and extensive plexiform neurofibromas with intraspinal extension in a patient with NF-1. It highlights the necessity for the development of clinical strategies to provide surgical excision of the intramedullary spinal tumor as well as correction of sagittal and coronal deformities.

Acknowledgements

Introduction | Case Report | Discussion | Acknowledgements

Note: The authors thank Emily Eismann for her assistance with the completion of this manuscript. This study was completed in its entirety at Cincinnati Children’s Hospital Medical Center. Research was supported by the Division of Pediatric Orthopaedic Surgery at Cincinnati Children’s Hospital Medical Center. None of the authors received financial support for this study.

Crawford AH; Parikh S; Schorry EK; Von Stein D. The immature spine in type-1 neurofibromatosis. J Bone Joint Surg Am. 2007 Feb;89 Suppl 1:123-42.[CrossRef]

Heard GE; Holt JF; Naylor B. Cervical vertebral deformity in von Recklinghausen’s disease of the nervous system: a review with necropsy findings. J Bone Joint Surg Br. 1962;44:880-5.

Yong-Hing K; Kalamchi A; MacEwen GD. Cervical spine abnormalities in neurofibromatosis. J Bone Joint Surg Am. 1979 Jul;61( 5):695-9.

Craig JB; Govender S. Neurofibromatosis of the cervical spine. A report of eight cases. J Bone Joint Surg Br. 1992 Jul;74( 4):575-8.

Goffin J; Grob D. Spondyloptosis of the cervical spine in neurofibromatosis. A case report. Spine (Phila Pa 1976). 1999 Mar 15;24( 6):587-90.[CrossRef]

Haddad FS; Williams RL; Bentley G. The cervical spine in neurofibromatosis. Br J Hosp Med. 1995 Apr 5-18;53( 7):318-9.

Kokubun S; Ozawa H; Sakurai M; Ishii Y. One-stage anterior and posterior correction of severe kyphosis of the cervical spine in neurofibromatosis. A case report. Spine (Phila Pa 1976). 1993 Nov;18( 15):2332-5.[CrossRef]

Crawford AH; Schorry EK. Neurofibromatosis update. J Pediatr Orthop. 2006 May-Jun;26( 3):413-23.[CrossRef]

Durrani AA; Crawford AH; Chouhdry SN; Saifuddin A; Morley TR. Modulation of spinal deformities in patients with neurofibromatosis type 1. Spine (Phila Pa 1976). 2000 Jan;25( 1):69-75.[CrossRef]

Steib JP; Bouchaïb J; Walter A; Schuller S; Charles YP. Could an osteoinductor result in degeneration of a neurofibroma in NF1?Eur Spine J. 2010 Jul;19 Suppl 2:S220-5. Epub 2010 May 7.[CrossRef]

Oetgen ME; Richards BS. Complications associated with the use of bone morphogenetic protein in pediatric patients. J Pediatr Orthop. 2010 Mar;30( 2):192-8.[CrossRef]

Topics

cordotomy ; plexiform neurofibroma ; neurofibromatosis 1 ; congenital kyphosis ; scoliosis ; halo-vest immobilization ; cervical spine ; intramedullary spinal cord neoplasms ; spondyloptosis ; cervical traction

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Senthil T. Nathan, Francesco T. Mangano, Alvin H. Crawford; Spondyloptosis of the Cervical Spine in a Patient with Neurofibromatosis Type 1A Case Report and Review of the Literature. JBJS Case Connector. 2013 Jan;3(1):e5 1-7.

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