Orthopedics

The articles prior to January 2011 are part of the back file collection and are not available with a current paid subscription. To access the article, you may purchase it or purchase the complete back file collection here

Case Report 

Posterior Spinal Fusion for Scoliosis in Ehlers-Danlos Syndrome, Kyphoscoliosis Type

Yang Liu, MD; Rui Gao, MD; Xuhui Zhou, MD; Wen Yuan, MD, PhD

Abstract

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. Surgical treatment of scoliosis associated with Ehlers-Danlos syndrome poses a challenge to spine surgeons because of the high risk of major complications. There is a paucity of evidence in the literature on surgical treatment for scoliosis in the Ehlers-Danlos syndrome patient.

This article describes 3 adolescent patients diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, which was treated by posterior spinal fusion only. After unsuccessful conservative treatment for at least 1 year, the patients underwent posterior spinal surgery for the correction of spinal deformity. A satisfactory correction in the spinal curve was achieved, with no obvious loss of correction during follow-up. No intra- or postoperative major complications were observed.

Our experience supports that a satisfactory correction of scoliosis can be achieved by posterior spinal fusion only in patients with Ehlers-Danlos syndrome, kyphoscoliosis type.

Drs Liu, Gao, Zhou, and Yuan are from the Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai, China.

Drs Liu, Gao, Zhou, and Yuan have no relevant financial relationships to disclose.

Drs Liu and Gao contributed equally to this article.

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. 1 A prevalence of approximately 1:5000 has been reported, with no racial predisposition. 2 Ehlers-Danlos syndrome, kyphoscoliosis type (previously described as Ehlers-Danlos syndrome VI), is a rare, autosomal recessive inherited pattern, and little is known about its incidence. The principal clinical features of this type include progressive curvature of the spine, fragile eyes, and severe muscle weakness, which are caused by a deficiency of collagen lysyl hydroxylase (a collagen-modifying enzyme) due to mutations in PLOD1. 1,3

Although all types of Ehlers-Danlos syndrome have a high risk of scoliosis compared to the general population, scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis type, is usually more severe and of earlier onset than that in other types. 2 Recently, Ehlers-Danlos syndrome has not been considered a contraindication for orthopedic surgery, Ehlers-Danlos syndrome patients with spinal deformity can be corrected by orthopedic surgery as necessary. Anterior and/or posterior spinal fusion has been applied in Ehlers-Danlos syndrome, but a high rate of major complications has been reported, such as paraplegia and fatal arterial rupture. 4–6

This article describes 3 patients with Ehlers-Danlos syndrome, kyphoscoliosis type, treated by posterior long spinal fusion alone from January 2000 to June 2005 with long-term follow-up (Table ).

Table 1. Patient Data

A 13-year-old girl presented with severe scoliosis, joint laxity, and skin hyperelasticity. Five years prior, she had an obvious spinal deformity and was treated with conservative treatment unsuccessfully. She was diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, because of the low activity of lysyl hydroxylase in fibroblasts cultured from her skin. Preoperatively, a major left thoracolumbar scoliosis of 78° from T10 to L3, a minor right thoracic curve of 45° from T3 to T10, and a kyphotic deformity of 15° from T12 to L2 were observed on radiographs, without intramedullary abnormalities on magnetic resonance imaging (MRI). The major curve reduced to 38° during the traction test.

The patient underwent posterior spinal surgery from T3 to L4 to correct the deformity. Bone grafts used were spinous process autografts and osteoinductive calcium phosphate ceramics. Total blood loss was 2100 mL, and neither vascular nor neurological complications were observed. Postoperatively, the major curve was corrected to 15°, the upper curve measured 5°, and a good spinal balance was observed. No obvious loss of correction was seen after 5 years and 9 months.

A…

Posterior Spinal Fusion for Scoliosis in Ehlers-Danlos Syndrome, Kyphoscoliosis Type

Abstract

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. Surgical treatment of scoliosis associated with Ehlers-Danlos syndrome poses a challenge to spine surgeons because of the high risk of major complications. There is a paucity of evidence in the literature on surgical treatment for scoliosis in the Ehlers-Danlos syndrome patient.

This article describes 3 adolescent patients diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, which was treated by posterior spinal fusion only. After unsuccessful conservative treatment for at least 1 year, the patients underwent posterior spinal surgery for the correction of spinal deformity. A satisfactory correction in the spinal curve was achieved, with no obvious loss of correction during follow-up. No intra- or postoperative major complications were observed.

Our experience supports that a satisfactory correction of scoliosis can be achieved by posterior spinal fusion only in patients with Ehlers-Danlos syndrome, kyphoscoliosis type.

Drs Liu, Gao, Zhou, and Yuan are from the Department of Orthopedics, Changzheng Hospital, Second Military Medical University, Shanghai, China.

Drs Liu, Gao, Zhou, and Yuan have no relevant financial relationships to disclose.

Drs Liu and Gao contributed equally to this article.

Correspondence should be addressed to: Wen Yuan, MD, PhD, Department of Orthopedics, Changzheng Hospital, Second Military Medical University, 415 Fengyang Rd, Shanghai, 200003, China (wenyuanspine@gmail.com).
Posted Online: June 14, 2011

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. 1 A prevalence of approximately 1:5000 has been reported, with no racial predisposition. 2 Ehlers-Danlos syndrome, kyphoscoliosis type (previously described as Ehlers-Danlos syndrome VI), is a rare, autosomal recessive inherited pattern, and little is known about its incidence. The principal clinical features of this type include progressive curvature of the spine, fragile eyes, and severe muscle weakness, which are caused by a deficiency of collagen lysyl hydroxylase (a collagen-modifying enzyme) due to mutations in PLOD1. 1,3

Although all types of Ehlers-Danlos syndrome have a high risk of scoliosis compared to the general population, scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis type, is usually more severe and of earlier onset than that in other types. 2 Recently, Ehlers-Danlos syndrome has not been considered a contraindication for orthopedic surgery, Ehlers-Danlos syndrome patients with spinal deformity can be corrected by orthopedic surgery as necessary. Anterior and/or posterior spinal fusion has been applied in Ehlers-Danlos syndrome, but a high rate of major complications has been reported, such as paraplegia and fatal arterial rupture. 4–6

This article describes 3 patients with Ehlers-Danlos syndrome, kyphoscoliosis type, treated by posterior long spinal fusion alone from January 2000 to June 2005 with long-term follow-up (Table ).

Patient Data

Table 1. Patient Data

Case Reports

Patient 1

A 13-year-old girl presented with severe scoliosis, joint laxity, and skin hyperelasticity. Five years prior, she had an obvious spinal deformity and was treated with conservative treatment unsuccessfully. She was diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, because of the low activity of lysyl hydroxylase in fibroblasts cultured from her skin. Preoperatively, a major left thoracolumbar scoliosis of 78° from T10 to L3, a minor right thoracic curve of 45° from T3 to T10, and a kyphotic deformity of 15° from T12 to L2 were observed on radiographs, without intramedullary abnormalities on magnetic resonance imaging (MRI). The major curve reduced to 38° during the traction test.

The patient underwent posterior spinal surgery from T3 to L4 to correct the deformity. Bone grafts used were spinous process autografts and osteoinductive calcium phosphate ceramics. Total blood loss was 2100 mL, and neither vascular nor neurological complications were observed. Postoperatively, the major curve was corrected to 15°, the upper curve measured 5°, and a good spinal balance was observed. No obvious loss of correction was seen after 5 years and 9 months.

Patient 2

A 14-year-old girl was diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, at our institution 6 years prior. She had a right lumbar curve of 27° at the first visit to another institution, which progressed to 36° after 2-year brace treatment, with reports of back pain.

Radiographs showed a right lumbar scoliosis of 36° from T11 to L2 and a kyphosis of 20° from L2 to L4. A subluxation at L3-4 was also recognized, with an unacceptable global trunk balance (Figure ). Subluxation like this is commonly seen in older patients with degenerative scoliosis and is a predictor of a progressive clinical course. Under traction test, a satisfactory correction (66%) of the major curve was observed. The activity of lysyl hydroxylase in fibroblasts cultured from the skin was low. A posterior spinal fusion from T4 to L4 was performed without complication. Bone grafts used were spinous process autografts and osteoinductive calcium phosphate ceramics, and total blood loss was 1800 mL. There was no obvious progression of the scoliosis curve, with a measurement of 10° at 6-year follow-up (Figure ). The trunk balance was also maintained at the end of follow-up.

Preoperative Spine Radiographs Showing Right Lumbar Scoliosis of 36° from L1 to L4, Rotational Subluxation in L3-L4 (A), and Lumbar Kyphosis of 20° from L2 to L4 (B).

Figure 1:. Preoperative Spine Radiographs Showing Right Lumbar Scoliosis of 36° from L1 to L4, Rotational Subluxation in L3-L4 (A), and Lumbar Kyphosis of 20° from L2 to L4 (B).

Postoperative AP (A) and Lateral (B) Spine Radiographs Showing Satisfactory Trunk Balance Without Any Decompensation.

Figure 2:. Postoperative AP (A) and Lateral (B) Spine Radiographs Showing Satisfactory Trunk Balance Without Any Decompensation.

Patient 3

A 13-year-old girl presented with elastic skin, joint laxity, and significant left thoracic scoliosis. The curve from T5 to T11 was 35° when she first visited our clinic at age 12, which progressed to 50° after 1-year brace treatment. The kyphotic curve from T12 to L2 was 5°, and no sagittal imbalance was noted. Correction rate of the major curve under traction test was 52%. Decreased activity of lysyl hydroxylase in fibroblasts cultured from the skin was observed. Posterior spinal fusion from T3 to L2 was performed on this patient, with a total blood loss of 1600 mL. Bone grafts used were spinous process autografts and osteoinductive calcium phosphate ceramics. Postoperatively, the curve was corrected to 10°. The balance of trunk was maintained, and the major curve of spine measured 12° at 4 years and 5 months postoperatively.

Discussion

Ehlers-Danlos syndrome is a heritable disorder of connective tissue characterized by symptoms due to connective tissue weakness. Skin, joints, ligaments, blood vessels, and eyes are predominantly affected in this disease. It is reported that thoracic scoliosis is common seen in the neonate with Ehlers-Danlos syndrome, kyphoscoliosis type. The kyphoscoliosis appears at birth or within the first year of life, and becomes moderate to severe in childhood. 1,2 Our 3 patients presented in their early teenage years with a severe scoliosis that had been unsuccessfully treated by conservative treatment for at least 6 months. Although it is uncertain whether scoliosis appears at birth, we believe that it presents at an early age.

Patients with severe kyphoscoliosis are at risk for complications such as respiratory compromise, recurrent pneumonia, and even cardiac failure. In another heritable connective tissue disorder, Marfan syndrome, which is also characterized by spinal deformities, spinal fusion is recommended in patients who have a spinal curve >40° to 50°. 7,8 However, the management of Ehlers-Danlos syndrome patients with progressive scoliosis remains one of the most challenging problems for spine surgeons because of the high incidence of major complications, especially fatal arterial rupture. 4–6 Coe et al 9 evaluated the incidence of surgeon-reported complications in a large series of spinal fusions for the patients with adolescent idiopathic scoliosis and found an incidence of 5.7% in 6334 patients.

There is a paucity of literature with regard to surgical management of scoliosis associated with the Ehlers-Danlos syndrome. Therefore, we cannot estimate the incidence of neurologic and vascular complications in patients with Ehlers-Danlos syndrome accurately.

Table shows spinal surgery-related complications in Ehlers-Danlos syndrome patients. Neurologic compromise was seen in posterior surgery, while most of the vascular complications were seen in anterior surgery. Generally, arteries from the lower aorta or iliac arteries were usually injured. 4–6,10,11 The spinal surgery-induced neurologic deficits and vascular injuries may reflect musculoskeletal hyperlaxity and vascular fragility. Ligamentous laxity may allow more correction than the neurologic or vascular structures can tolerate.

Spinal Surgery-Related Complications in Ehlers-Danlos Syndrome Patients as Described in the Literature

Table 2. Spinal Surgery-Related Complications in Ehlers-Danlos Syndrome Patients as Described in the Literature

Posterior surgery alone can avoid dissection of the segmental arteries and diskectomies, reducing major vessel-related complications by an anterior approach. 10 However, Ehlers-Danlos syndrome patients are more prone to intraoperative bleeding because of fragile small blood vessels. In our case series, excessive blood loss was observed but could be controlled without major problems. To avoid vascular complications in Ehlers-Danlos syndrome patients, we recommend using hypotensive anesthesia, avoiding blunt dissection, and liberally using electrocautery. Furthermore, intraoperative reptilase injection, controlling hypertension, and lowering diastolic blood pressure below 90 mm Hg are helpful in our practice.

In our experience, evaluating whether a patient can tolerate the corrective force by traction test preoperatively is an effective way to determine the anticipated correction level during the operation. Our 3 patients had a correction rate >50% under traction test. Moreover, assessment of preoperative bending radiographs can help to determine the lowest instrumented vertebra, which can be placed horizontally while the distal disk space can be opened bilaterally.

A primary goal in scoliosis surgery is to preserve motion in the distal lumbar segments without the predisposition to postoperative decompensation, which is attributed to inappropriate fusion levels, the derotation maneuver, or excessive thoracic curve correction. 12,13 It had also been considered that posterior fusion alone may provide equally satisfactory results as anterior approach. 14 In our practice, no spinal imbalance or decompensation was detected, and there was a satisfactory correction rate. We attribute this to the curvature that was <80°, the acceptable curve flexibility, and the long spinal fusion from at least 1 level proximal to the upper end vertebra to 1 level caudal to the lower end vertebra.

References

  1. 1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31–37. doi: 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O [CrossRef]
  2. 2. Steinmann B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome. In: Royce PM, Steinmann B, eds. Connective Tissue and Its Heritable Disorders. New York, NY: Wiley-Liss; 2002:351–407.
  3. 3. Steinmann B, Eyre DR, Shao P. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet. 1995; 57(6):1505–1508.
  4. 4. Vogel LC, Lubicky JP. Neurologic and vascular complications of scoliosis surgery in patients with Ehlers-Danlos syndrome. A case report. Spine (Phila Pa 1976). 1996; 21(21):2508–2514. doi: 10.1097/00007632-199611010-00021 [CrossRef]
  5. 5. Akpinar S, Gogus A, Talu U, Hamzaoglu A, Dikici F. Surgical management of the spinal deformity in Ehlers-Danlos syndrome type VI [published online ahead of print December 20, 2002]. Eur Spine J. 2003; 12(2):135–140.
  6. 6. Yang JS, Sponseller PD, Yazici M, Johnston CEII. Vascular complications from anterior spine surgery in three patients with Ehlers-Danlos syndrome. Spine (Phila Pa 1976). 2009; 34(4):E153–157. doi: 10.1097/BRS.0b013e31818d58da [CrossRef]
  7. 7. Robins PR, Moe JH, Winter RB. Scoliosis in Marfan’s syndrome. Its characteristics and results of treatment in thirty-five patients. J Bone Joint Surg Am. 1975; 57(3):358–368.
  8. 8. Sponseller PD, Bhimani M, Solacoff D, Dormans JP. Results of brace treatment of scoliosis in Marfan syndrome. Spine (Phila Pa 1976). 2000; 25(18):2350–2354. doi: 10.1097/00007632-200009150-00013 [CrossRef]
  9. 9. Coe JD, Arlet V, Donaldson W, et al. Complications in spinal fusion for adolescent idiopathic scoliosis in the new millennium. A report of the Scoliosis Research Society Morbidity and Mortality Committee. Spine (Phila Pa 1976). 2006; 31(3):345–349. doi: 10.1097/01.brs.0000197188.76369.13 [CrossRef]
  10. 10. Debnath UK, Sharma H, Roberts D, Kumar N, Ahuja S. Coeliac axis thrombosis after surgical correction of spinal deformity in type VI Ehlers-Danlos syndrome: a case report and review of the literature. Spine (Phila Pa 1976). 2007; 32(18):E528–531. doi: 10.1097/BRS.0b013e31813162b3 [CrossRef]
  11. 11. Im JS, Lim YH, Park JS, Lee SS, Kim KM. Rupture of abdominal aortic aneurysm after spine surgery in the patient with Ehlers-Danlos syndrome. A case report [published online ahead of print June 23, 2010]. Korean J Anesthesiol. 2010; 58(6):555–559. doi: 10.4097/kjae.2010.58.6.555 [CrossRef]
  12. 12. Cochran T, Irstam L, Nachemson A. Long-term anatomic and functional changes in patients with adolescent idiopathic scoliosis treated by Harrington rod fusion. Spine (Phila Pa 1976). 1983; 8(6):576–584. doi: 10.1097/00007632-198309000-00003 [CrossRef]
  13. 13. Moore MR, Baynham GC, Brown CW, Donaldson DH, Odom JAJr. Analysis of factors related to truncal decompensation following Cotrel-Dubousset instrumentation. J Spinal Disord. 1991; 4(2):188–192. doi: 10.1097/00002517-199106000-00009 [CrossRef]
  14. 14. Lipton GE, Guille JT, Kumar SJ. Surgical treatment of scoliosis in Marfan syndrome: guidelines for a successful outcome. J Pediatr Orthop. 2002; 22(3):302–307. doi: 10.1097/00004694-200205000-00006 [CrossRef]

Patient Data

Patient No. Scoliosis Curve Fused Levels Major Curve, deg
Correction Rate, %
Preop Postop Follow-up
1 T3-L3 T3-L4 78 15 16 79.5
2 T11-L4 T4-L4 36 8 10 72.2
3 T5-11 T3-L2 50 10 12 76.0

Spinal Surgery-Related Complications in Ehlers-Danlos Syndrome Patients as Described in the Literature

Reference Patient No./Age, y EDS Type Sex Deformity Complication Related Surgical Procedure
Vogel and Lubicky, 1996 4 1/8.5 NR M Scoliosis, T2-L4 Unilateral foot and ankle weakness with transient neurogenic bladder Posterior spinal fusion
2/7.5 NR F Scoliosis, T2-L5 Thoracic incomplete paraplegia with an anterior cord syndrome Posterior spinal fusion
3/13.5 NR F Kyphoscoliosis, T5-L4 Thoracic complete paraplegia Posterior spinal fusion
4/12 NR F Scoliosis, T10-L3 Injuries of 2 segmental arteries from the lower aorta Anterior surgery related
Akpinar et al, 2003 5 1/13 VI F Kyphoscoliosis, T5-L4 Injuries of segmental arteries from the lower aorta and common iliac vein Anterior surgery related
2/13 VI F Scoliosis, T6-L4 Injury of the superior gluteal artery Iliac bone graft harvest related
Debnath et al, 2007 9 1/20 VI M Kyphoscoliosis, T2-L4 Celiac artery thrombosis; died Posterior surgery related
Yang et al, 2009 6 1/13 I M Kyphoscoliosis, T6-L4 Injuries of the left external iliac vein and artery Anterior surgery related
2/7 II F Kyphoscoliosis, T3-L4 Injuries of the left common iliac artery and vein Anterior surgery related
3/9 IV M Kyphoscoliosis, T7–L3 Injuries of segmental arteries from abdominal aorta Anterior surgery related
Im et al, 2010 10 1/15 IV F Scoliosis, T4-L5 Injuries of the abdominal aorta; died NR

10.3928/01477447-20110427-28

Sign up to receive

Journal E-contents