Case Review

Von-Recklinghausens disease and spine canal ectasis: An exceptional complication and a new therapeutic approach
Jawad Lrhezzioui1, Evelyne Emery1, Mihaela Irimia1, Jean-Francois Mallet2
Abstract: Von-Recklinghausens disease or neurofibromatosis type 1 (NF1) is a hereditary disorder in which the genetic transmission is autosomic dominant and supported by the chromosome 17. Scoliosis is a classical complication of this disease. Spinal canal ectasis, at the extremities of the arthrodesis, is a rare complication of scoliosis occurring in the context of NF1 and there is no clear treatment described in the literature. We report 3 observations of patients who were admitted for the complex association of NF1 and spinal canal ectasis occurring after the surgical treatment of scoliosis and discuss our concept of treating the spinal ectasis which weakened the fusion of arthrodesis. These 3 cases of NF1 in males whose mean age was 22-years-old (19, 23, 24 years-old) were operated at the age of 8, 9 and 14 years-old respectively for severe thoraco-lumbar scoliosis. At the initial surgical management, the spine canal diameter was within normal range. They underwent a two-stage surgery with anterior and posterior spinal arthrodesis. The abnormal spinal canal dilatation (spinal ectasis) appeared during the follow-up and was revealed by back pain of the lumbar and thoracic spine. Magnetic resonance imaging and computed tomography scan concluded a posterior body vertebral destruction with clear enlargement of the subdural space, mainly located at the extremity of the arthrodesis, which was directly at risk. It was hypothesised an abnormal hyperpression of the cerebrospinal fluid (CSF). Magnetic resonance imaging of the whole spine and the brain did not show any spinal cord anomaly, Chiaris malformation or hydrocephalus. We decided to measure the CSF pressure via lumbar puncture. It was abnormal in all 3 cases (18 - 21 mm Hg), as was the biochemical analysis of the CSF. All 3 patients underwent surgery with a lumbo-peritoneal programmeable shunt (Sophysa shunt). The postoperative follow-up (9 months to 3 years) was good without recurrence of pain and no cerebral hypotension symptoms. Vertebral bone destruction was seen to be halted on control MRI or CT scan. The CFS hyperpression theory must be studied more carefully so as to understand the intrinsic mechanisms in this particular clinical context by a prospective larger series with monitoring of the CSF pressure before lumbo-peritoneal shunting and a longer postoperative course to confirm the validity of this therapeutic approach. (p89-93) Key words: Von-Recklinghausens disease, spinal canal ectasis, lumbo-peritoneal shunting and CSF hyperpression

Introduction
Von-Recklinghausens disease (VRH) or neurofibromatosis type 1 (NF1) is an hereditary disorder in which the genetic transmission is autosomic dominant and supported by the chromosome 17. Scoliosis is a classical complication of this disease. Spinal canal ectasis, at the extremities of the arthrodesis, is an uncommon complication for which there is no clear treatment described in the literature. We report 3 cases of VRH with spinal canal ectasis which occurred after surgery for scoliosis. They were treated by lumboperitoneal shunt. We discuss the pathogenesis of this complication and suggest this new therapeutical option.

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Neurosurgical Department Department of Paediatric Orthopaedic Surgery Centre Hospitalier Universitaire de Caen Caen France Correspondence: Dr. Jawad Lrhezzioui Service de Neurochirurgie Hopital Militaire Avicenne Marrakech Morocco Tel: (212 1) 363 4325 Email: jlrhezzioui@gmail.com

Case Reports
Case 1: A 23-year-old male patient with NF1, diagnosed on caf-au-lait spots and progressive severe dorso-lumbar scoliosis (Fig. 1a), underwent anterior and posterior spinal arthrodesis from T3 - L3 in 1988 and was symptom free for 12 years. In 2001, he complained of lumbar back pain

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without any response to medical treatment. The radiological exploration detected the beginning of a posterior vertebral body lysis from T4 - T9 (Fig. 1b). The patient was operated and the old arthrodesis was changed with a titanium CD (Cotrel Dubousset) material MRI compatible (T3 - L4) and a new bone graft. The follow-up was uneventful but the patient still complained of back pain after 2 years of follow-up. The MRI control showed the vertebral bony destruction clearly and the anterior bone graft partially damaged (Fig. 1c). The spinal canal was enlarged and an arachnoid cyst was suspected but not confirmed by myelography. The arthrodesis was reinforced by a further anterior and lateral peroneal bone graft.

Thereafter, as there was no local or radiological improvement, we decided to measure the cerebrospinal fluid (CSF) pressure via a direct lumbar puncture and observed a high pressure (21 mm Hg). The biochemical analysis of the CSF was normal. The craniospinal MRI did not show any cerebral or spinal tumours, hydrocephalus or Chiaris malformation. A lumbo-peritoneal shunt was realised with a programmeable shunt (Sophysa shunt) in 2003. The followup was uneventful. The recovery was excellent without any back pain and the vertebral bony destruction all along the spinal canal ectasis had stopped on the last MRI control (Figs. 1d and e) done 3 years after initial lumbo-peritoneal shunting.

A
Figure 1a - Frontal MRI on T1 with dorsolumbar scoliosis

Figures 1d and e - Sagittal MRI T1 and T2 showing cessation of bone destruction and of the spinal canal ectasis after lumbo-peritoneal shunting

Figures 1b and c - (b) Sagittal MRI on T1: posterior vertebral body lysis of T4 - T9 with spinal canal ectasis in front of (c) sagittal MRI on T2: the same lesions on (b) shown clearly

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Case 2: A 24-year-old man with a NF1 disease diagnosed since the age of 3 months on caf-au-lait spots, presented with an evolutive dorso-lumbar scoliosis at the age of 9 years in 1991. He underwent a posterior spinal arthrodesis from T8 - L4 via CD material and anterior fusion with a tibial bone graft at the same levels (Fig. 2a). He had a good recovery until May 2005, when he came back to the hospital, complaining of a lumbar back pain without any response to analgesic medications. Spinal CT scan showed a posterior vertebral body lysis of T9 - L1 with spinal canal ectasis (Fig. 2b). A high CSF pressure (19 mm Hg) was noted via lumbar puncture. The MRI did not show any hydrocephalus, cerebrospinal tumour or Chiari malformation. We inserted a lumbo-peritoneal shunt in 2005 (Fig. 2c). Following a significant decrease in back pain, the patient presented with clinical symptoms of CSF hypotension. We modified the programmeable shunt to 130 mm Hg and the postoperative CSF hypotension symptoms disappeared. At the last clinical and radiological follow-up, the bone lysis was ceased.

Figure 2c - X-ray film: Sophysa lumbo-peritoneal shunt

Figure 2a - X-ray film: Spinal posterior arthrodesis T8 - L4 for dorso-lumbar scoliosis

Case 3: A 19-year-old man with NF1 underwent a thoracotomy via the ninth inter-rib space at the age of 12years-old for a neurofibroma and a laparotomy for an abdominal Queen tumour. He developed progressive dorso-lumbar scoliosis and underwent, at the age of 14years-old (1999), an anterior vertebral arthrodesis with peroneal bone graft from T10 - L3 and a posterior spinal osteosynthesis from T4 - L4 with tibial bone graft. He had a good recovery which lasted for 2 years. In December 2001, the patient presented again with a spinal back pain with a posterior vertebral body lysis at the extremities of the arthrodesis (T11 - L3 and T1 - T4) and a spinal canal ectasis (Figs. 3a and b) which was progressing on the MRI control at the end of 2003 (Fig. 3c). Moreover, he complained of headache and vomiting without encephalo-medullary tumours, hydrocephalus or Chiari malformation on the MRI. There was high CSF pressure at the lumbar puncture (18 mm Hg). A programmeable lumbo-peritoneal shunt at 110 mm Hg was inserted and the recovery was excellent with no further spinal back pain nor intracranial hypertension signs. At the last follow-up, the bony vertebral destruction and spinal canal ectasis were stopped (Fig. 3d).

Discussion
Neurofibromatosis type 1 is one of the most frequent autosomal dominant disorders, occurring with an incidence of around 1/3500. The NF1 gene maps to chromosome 17q11 and is highly pleiotropic and expressed in a diverse set of tissues and organs. Its penetrance is complete, but the manifestations are extremely variable.1

B
Figure 2b - Sagittal CT scan: Spinal canal ectasis with posterior vertebral body destruction

The incidence of skeletal involvement in this disease, according to different reports, ranges from 29 - 51%, scoliosis being the most common lesion (10 - 41%).3 When scoliosis is present, it seems to be consistently associated

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Figures 3a and b - (a) T2 lumbar sagittal MRI: Posterior vertebral body lysis of T11 - L3 with spinal canal widening. (b) T2 cervicodorsal sagittal MRI: Posterior vertebral body lysis of T1 - T4 with spinal canal ectasis

Figures 3c and d - (c) T2 thoracic axial MRI (T3): Progress of the spinal canal widening. (d) Lumbar sagittal CT scan: Cessation of progressive vertebral lysis and canal ectasis

with caf-au-lait spots on the skin, which was the case for all our 3 patients.3 The characteristic bony lesions of NF1 are generally considered to be dysplasia which is an intrinsic abnormality of development of bone and would therefore be a primary manifestation of the NF1 mutation.10,11 Alwan, et al believe that these lesions result from a vicious cycle of abnormal bony maintenance or repair that develops within NF1 haplo-insufficient bone in response to abnormal mechanical forces or other distorting influences that affect bone locally.1 Scoliotic pathologies in NF1 are subdivided classically on dystrophic and non-dystrophic types which can progress to a dystrophic form.5,10 Dystrophic scoliosis usually presents

between 6 - 10 years of age, as in our cases 1 and 2.11 Vertebral scalloping is described as highly characteristic of NF1 by Riccardi, et al and it has been reported to be present in about 10% of NF1 patients.11 This lesion, which refers to an exaggerated concavity, usually of the posterior side of the vertebral body, may also progress with age.1,2 The pathogenesis of vertebral lesions in NF1 is not clearly understood, and it remains controversial whether these bony changes represent primary osseous dysplasia or secondary responses to different causes. It is also possible that the pathogenesis differs from case to case.1 Dural ectasia regulary occurs in association with enlargement of the vertebral foramina and widening of the spinal canal in NF1 patients, but it is not clear whether dural ectasia is a primary abnormality of the dura or just response

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of the dura to changes in the vertebrae and adjacent tissues.1,2,6,13 In fact, vertebral wedging in NF1 is widely accepted as a secondary abnormality that results from the pressure of an adjacent paraspinal tumour rather than being a primary osseous defect.7,14 We believe that the enlargement of the spinal canal, consequence of the bony destruction of the posterior vertebral body, can be caused by high CSF pressure. This theory was evoked by Havlik and Boaz attributing sphenoid wing osteopathy to increased CSF pressure, much like the situation with temporal arachnoid cyst and chronic subdural haematoma.8 They reported a case with unilateral disturbance in CSF dynamics by radionucleotide cisternogram. Indirect evidence of right-side increasing in CSF pressure included the prominence of the right cerebral hemisphere with a slight midline shift, expansion of the temporal fossa, and herniation of the temporal lobe. Others have speculated that pressure is a primary consideration in the sphenoid wing dysplasia.4,12 Hsu, et al reported a CSF fistula after an anterior decompression and fusion for scoliosis in NF1 without any comment about the pathogenesis of this clinical case. It might be suggested that it could result from increased CSF pressure.9 In our 3 cases, the measurement of CSF pressure via lumbar puncture confirms this theory (18 - 20 mm Hg) and there was no craniospinal tumours, hydrocephalus or Chiari malformation. In addition, Case No. 3 presented with signs of intracranial hypertension which disappeared after insertion of lumbo-peritoneal shunt, and the recovery was good without any recurring spinal back pain. The shunting stopped the vertebral bone destruction and spinal canal ectasis. This new therapeutic approach (lumbo-peritoneal programmeable shunt) seems to be effective with a very good outcome.

carefully, so as to understand the intrinsic mechanisms in this particular context, by a prospective larger series with monitoring of CSF pressure before lumbo-peritoneal shunting and a longer postoperative course so as to confirm the validity of this therapeutic option.

References
1. Alwan S, Tredwell SJ, Friedman JM: Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)? Clin Genet 2005, 67: 378-390 Casselman ES, Mandell GA: Vertebral scalloping in neurofibromatosis. Radiol 1979, 131: 89-94 Chaglassian JH, Riseborough EJ, Hall JE: Neurofibromatous scoliosis. Natural history and results of treatment in thirty seven cases. J Bone Joint Surg 1976: 58A: 695-702 Ciricillo SF, Edwards MSB: Absence of the greater sphenoid wing in neurofibromatosis type 1: congenital or acquired: case report. Neurosurg 1995, 37(1): 133; Comment Crawford AH: Pitfalls of spinal deformities associated with neurofibromatosis in children. Clin Orthop 1989, 245: 29-42 Egelhoff JC, Bates DJ, Ross JS, et al: Spinal MR findings in neurofibromatosis types 1 and 2. AJNR 1992, 13(4): 1071-7 Funasaki H, Winter RB, Lonstein JB, et al: Pathophysiology of spinal deformities in neurofibromatosis: An analysis of seventyone patients who had curves associated with dystrophic changes. J Bone Joint Surg Am 1994, 76(5): 692-700 Havlik RJ, Boaz J: Cranio-orbital-temporal neurofibromatosis: are we treating the whole problem? J Craniofac Surg 1998, 9: 529-535 Hsu LCS, Lee PC, Leong JCY: Dystrophic spinal deformities in neurofibromatosis: Treatment by anterior and posterior fusion. J Bone Joint Surg Br 1984, 66B(4): 495-499 Hunt JC, Pugh DG: Skeletal lesions in neurofibromatosis. Radiol 1961, 76: 1-19 Riccardi VM (ed): Skeletal system. In: Neurofibromatosis: Phenotype, Natural History, and Pathogenesis, 3rd Ed. Baltimore, John Hopkins University Press 1999, pp 250-273 Schut L: Absence of the greater sphenoid wing in neurofibromatosis type 1: congenital or acquired: case report. Neurosurg 1995, 37(1): 133; Comment Stone JW, Bridwell KH: Dural ectasia associated with spontaneous dislocation of the upper part of the thoracic spine in neurofibromatosis. J Bone Joint Surg Am 1987, 69(7): 1079-1083 Vitale MG, Guha A, Skaggs DL: Orthopaedic manifestations of neurofibromatosis in children: An update. Clin Orthop Relat Res 2002, 401: 107-118

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Conclusion
The CSF hyperpression theory must be studied more

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