Klippel-Feil syndrome

ABSTRACT

In analysing and investigating 66 consecutive cases of congenital scoliosis, we aimed to evaluate the clinical pattern of presentation, identify the underlying vertebral anomaly causing the deformity, and determine the frequency of associated intraspinal anomalies, cardiovascular anomalies and genitourinary anomalies.

Associated general anomalies were seen in 44% of the cases. The commonest pattern of deformity was a right-sided thoracolumbar curve. Hemivertebra was the most common vertebral anomaly (45%). Occult intraspinal anomalies were seen in 15% of cases, diastematomyelia being the commonest anomaly. Genitourinary anomalies and cardiovascular abnormalities were encountered in 6% and 15% of patients respectively.

As decision making in the treatment of congenital scoliosis depends on the natural history of progression of the deformity and associated intra and extra spinal anomalies, identification of all associated anomalies is essential.

Key words: congenital scoliosis, intraspinal anomalies, renal anomalies, cardiac anomalies

INTRODUCTION

Congenital scoliosis is due to the presence of vertebral anomalies that cause an imbalance in the longitudinal growth of the spine. Even though contributing vertebral anomalies are present at birth, the clinical deformity may become evident only later in childhood7. The true incidence of congenital scoliosis in the general population remains unknown because some vertebral anomalies cause so little deformity that they may remain undetected.5,7 Being a developmental anomaly, it is often associated with intraspinal, genitourinary, cardiovascular and other general abnormalities7,11,13 Congenital deformities of the spine are relatively rigid with a concurrent danger of neurological complications.5 All these factors are important in decision making and the management of congenital scoliosis. This study was undertaken to analyse the patterns of presentation of congenital scoliosis seen at one centre.

MATERIALS AND METHODS

Of 253 consecutive patients with scoliosis seen during a 5 year period, 66 cases were congenital scoliosis, and they form the basis of this study (Table 1).

Clinical Assessment

The age at presentation, sex, curve pattern, presence of associated kyphosis and the neurological status were documented. Associated general abnormalities like Sprengel's deformity, high arched palate, Klippel-Feil syndrome, cutaneous abnormalities (Fig. la), etc. were noted.

Radiological Evaluation

All the patients had standing anteroposterior and lateral views of the spine from C5 to L5. The underlying vertebral anomalies were classified as per the classification of MacEwen et al.4, namely, failure of formation, failure of segmentation, and mixed or unclassifiable anomalies.

The patients were subjected to myelography followed by computerized axial tomography to detect the associated intraspinal anomalies (Fig. 1c). The dye flowed up to the occipitovertebral junction to rule out Arnold-Chiari malformation, syringomyelia, etc.

Ultrasonography was used as a screening procedure to detect genitourinary anomalies (Fig. 2). Intravenous pyelogram was performed to confirm the diagnosis when anomalies were detected on the ultrasonogram.

Evaluation of Cardiovascular Anomalies

A cardiovascular evaluation was done of all the patients by both clinical examination and echocardiography to exclude cardiac anomalies.

RESULTS

The various types of scoliosis encountered during the period of study are shown in Table 1. Congenital scoliosis accounted for 26%.

The median age at the time of presentation of congenital scoliosis was 12 years (range 2 months to 32 years). Congenital scoliosis was more frequent in girls (male:female ratio 1:1.27).

Right-sided and left-sided curves were seen with a frequency of 1.44:1 (39 right sided versus 27 left sided). The various types of curve patterns seen are shown in Table 2.

Associated kyphosis was seen in 16 (24%) patients. General abnormalities were seen in 29 (44%) patients in different combinations. The incidence of various general abnormalities noted is shown in Table 3.

Of all the patients, 5 had neurological deficits at the time of presentation and all 5 had associated kyphosis. Bilateral weakness of toe extensors with absent ankle jerk was seen in 3 patients. In the remaining 2 there was hypoaesthesia at L5, Si dermatome and weakness of toe extensors as well as flexors.

Hemivertebra was found to be the commonest type of vertebral anomaly. Most rapidly progressing unilateral unsegmented bar with or without contralateral hemivertebrae were seen in 15 (27.77%) patients (Fig. 2). The vertebral anomalies seen are shown in Table 4.

Intraspinal anomalies were seen in 10 (15%) patients with diastematomyelia (Fig. lc) being the commonest anomaly seen in 9 patients. Lumbar canal stenosis was seen in a single patient. Two patients with a diastematomyelia also had an intraspinal lipoma. Of the 5 patients who presented with neurological deficit, 3 had diastematomyelia. Unilateral unsegmented bar with contralateral hemivertebrae was seen in 5 patients who had diastematomyelia. The level of diastematomyelia in 8 patients was the thoracolumbar region. In these patients the diastematomyelia was at the site of spinal deformity, whereas in one patient it was in the lumbar region distant from the site of the apex of the curve, which was in the thoracic region.

Genitourinary anomalies were seen in 4 patients (Table 5). None of them had clinical features suggestive of genitourinary anomalies, but were incidental findings detected on screening.

Cardiovascular anomalies were seen in 10 patients (Table 6) with mitral valve prolapse being the commonest anomaly.

DISCUSSION

Although congenital scoliosis is considered to be relatively uncommon,7 in our series it accounted for 26% of patients with scoliosis. This is significantly higher than the frequency noted at the Alfred I. Dupont Institute, Wilmington, Delaware, USA, where congenital scoliosis represented only 12% of patients with scoliosis.4 This difference may be, in part, due to referral patterns and the relative paucity of spinal surgery centres in India.

The median age at presentation was 12 years. This may support the hypothesis that though the vertebral anomalies are present at birth, they may manifest as a visible deformity only much later. However, socioeconomic factors may have also contributed to this delay in presentation.

In this series, congenital scoliosis was most commonly found in the thoracolumbar region (60.66%) and least commonly in the lumbosacral region (1.51 %) of the spine (Table 2). This differs from the observation of McMaster and Ohtsuka who found that the commonest site for congenital scoliosis was the lower thoracic region.5

Neurological involvement at the time of presentation may indicate the underlying occult intraspinal anomaly.2,6,13 It is therefore essential to exclude underlying spinal cord anomalies if a patient presents with a neurological deficit, which would then dictate the treatment options. Neurological deficit at the time of presentation was seen in 5 patients. All of them had associated kyphosis. However only 3 were found to have diastematomyelia.

Associated general abnormalities were seen in 44% of the patients. We found a higher incidence of general abnormalities than Nasca et al. who found general abnormalities in 13.33% of patients,8 but a lower incidence in comparison with the findings of Kahanovitz et al.3

The progression of the curve depends upon the type of vertebral anomaly. A unilateral unsegmented bar with contralateral hemivertebrae at the same level is considered to be the most progressive.5,7,13 In this series the incidence of this combination was 12% (Table 4) which is comparable to the frequency of 10% noted by McMaster and Ohtsuka.5

Intraspinal anomalies were detected in 15% of patients with diastematomyelia being the commonest (13.66%). McMaster found intraspinal anomalies in 18.3% of 251 patients of congenital scoliosis with diastematomyelia as the commonest anomaly (16%). In an earlier study, Winter et al. found diastematomyelia in only 4.9% of 392 patients with congenital scoliosis.13 According to McMaster, the lower incidence seen by Winter et al. was probably due to the fact that myelography was not performed in all the patients and other types of intraspinal anomalies were not studied. Gillespie et al. reported on 32 patients who had intraspinal anomaly associated with congenital scoliosis; 17 of them had diastematomyelia and 15 had other anomalies. These authors did not, however, report the overall prevalence of these anomalies in their patients with congenital scoliosis.2

Clinically intraspinal anomalies can present in different ways. In this study, 3 of the 10 patients presented with varying degrees of neurological deficits; one patient had a hairy patch over the back (Fig.la) and in the remaining, there were no clinical features suggestive of an intraspinal anomaly. We found unilateral unsegmented bar with contralateral hemivertebrae as the most commonly associated osseous anomaly with diastematomyelia (Fig. 1b, 1c). These findings correlate well with that of McMaster.6

Congenital scoliosis is frequently associated with congenital anomalies in other systems, especially those formed from mesenchymal tissue. These anomalies are often asymptomatic and may remain undetected until the patient is fully assessed following the diagnosis of congenital scoliosis.1,7 Genito-urinary anomalies that can cause obstruction are silent and, if not searched for, may cause serious damage before they are diagnosed. The incidence of genito-urinary anomalies was found to be 6.06%. This is less than the frequency seen in other studies.1,10,12

Cardiovascular anomalies were the most common of the associated systemic anomalies in our study. They were seen in 15.15% of patients with mitral valve prolapse being the commonest anomaly. This is in contrast to the views of various authors who stated that genitourinary anomalies were the commonest systemic anomalies.1,11,12 According to Winter, the incidence of congenital heart disease in congenital scoliosis was 7%.11 The study done by Roth et al. showed that the overall incidence of scoliosis inpatients with congenital heart disease was 12%.9

CONCLUSION

As decision making in congenital scoliosis depends upon the natural history of progression, clinical and radiological assessment is essential. Detection of inherent problems in the spinal cord and other associated anomalies become relevant in choosing the appropriate surgical management. Hence, we feel all patients with congenital scoliosis should be thoroughly investigated before opting for definitive treatment.

REFERENCES

1. Bunch WH, Patwardhan AC. Scoliosis, Making clinical decisions. St. Louis: CV Mosby Co 1989, 68-98.

2. Gillespie R, Faithfull DK, Roth A, Hall JE. Intraspinal anomalies in congenital scoliosis. Clin Orthop 1973, 93:103-9.

3. Kahanovitz N, Brown JC, Bonett CA. The operative treatment of congenital scoliosis. Clin Orthop 1973, 93:103-9.

4. MacEwen GD, Conway JJ, Miller WT. Congenital scoliosis with a unilatelar bar. Radiology 1968, 90:711-15.

5. McMaster Ml, Ohtsuka K. The natural history of congenital scoliosis. J Bone Joint Surg 1982, 64-A:1128-47.

6. McMaster MJ. Occult intraspinal anomalies and congenital scoliosis. J Bone Joint Surg [Am] 1984, 66-A:588-601.

7. McMaster MJ. Congenital scoliosis. In: Weinstein SL, ed. The Pediatric Spine - Principles and Practice, Vol.1. New York: Raven Press 1994, 227-44.

8. Nasca RJ, Stelling FH, Steel HH. Progression of congenital scoliosis due to hemivertebrae and hemivertebrae with bars. J Bone Joint Surg [Am] 1975, 57-A:456-66.

9. Roth A, Rosenthal A, Hall JE, Mizel M. Scoliosis and congenital heart disease. Clin Orthop 1973, 93:95-102.

10. Tori JA, Dickson JH. Association of congenital anomalies of the spine and kidneys. Clin Orthop 1980, 148:259-62.

11. Winter RB. Congenital scoliosis. Clin Orthop 1973, 93:75-94.

12. Winter RB. Congenital scoliosis. Orthop Clin North Am 1988, 19:95-408.

13. Winter RB, Haven JJ, Moe JH, Laggard SM. Diastematomyelia and congenital spine deformities. J Bone Joint Surg [Am] 1974, 27-39.

S Mohanty and N Kumar

Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.

Address correspondence and reprint requests to: Professor SP Mohanty, Department of Orthopaedics, Kasturba Medical College, Manipal 576 119, Karnataka, India. E-mail: sp_mohanty@hotmail.com.

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