Kyphoscoliosis

The patient’s age at symptom onset, as well as complaints related to the presence of kyphoscoliosis (KS), depend on the severity of the condition [1]. If not diagnosed prenatally, severe symptoms of congenital KS may be seen at birth. However, mild deformities of the spine may not clinically manifest until years later [2]. In this context, it has been estimated that about 70% of congenital vertebral anomalies result in progressive deformities [3]. Besides the asymmetry of the thoracic wall and the deviation of the vertebral column – which may increase several degrees per year [4] – KS patients typically claim backaches and the inability to sit or stand for a prolonged period of time. Moreover, they may eventually present with the following comorbidities and sequelae:

• Respiratory insufficiency due to restrictive lung disease: Reduced tolerance to exercise may affect life quality, respiratory failure may be life-threatening. Lung function tests may reveal a diminished inspiratory capacity, vital capacity, and total lung capacity, and blood gas analyses may confirm decreased arterial oxygen saturation [5] [6]. Respiratory muscle strength may be severely reduced [7], and affected individuals may suffer from pulmonary hypertension. Patients may also suffer from recurrent infections of the respiratory tract.
• Neurological deficits due to spinal cord compression: This condition is more likely to occur in patients suffering from severe kyphosis than in those presenting with sole scoliosis. Thus, the severity of anteroposterior spine deformity correlates with the likelihood of paraplegia or paralysis in KS patients. Those individuals presenting with sharp-angle kyphosis are at high risks of spinal cord compression [8]. Furthermore, thoracic defects are more likely to lead to neurological deficits than lumbar anomalies [4].

Of note, a considerable share of children diagnosed with congenital spine anomalies suffers from additional developmental defects that may affect the cardiovascular or genitourinary system [3]. Thus, pediatric KS patients may present with symptoms unrelated to deviations of the vertebral spine.

Acquired KS may be related to degenerative disease, infectious disease or trauma, or may occur sporadically. While functional impairment of thoracic organs may cause complications as described above, the course of the disease may differ in the progression of the underlying disease.

Developmental defects due to disturbed somitogenesis and impaired formation of the axial skeleton may be detected during prenatal ultrasound examinations [9]. At a later age, vertebral anomalies causing KS may be visualized by means of plain radiography and computed tomography. The single most important advantage of computed tomography scans is the possibility of three-dimensional reconstructions of the vertebral spine [10]. In any case, the presence of single or multiple hemivertebrae and wedge vertebrae, unilateral unsegmented bars, block vertebrae and butterfly vertebrae may be visualized [11]. Magnetic resonance imaging may be indicated to assess the condition of the spinal cord and to identify comorbidities such as diastematomyelia [3] [12]. Diagnostic imaging may also be employed to depict acquired pathologies of the skeleton, e.g., rickets, osteopenia, and osteoporosis.

1. Campos MA, Weinstein SL. Pediatric scoliosis and kyphosis. Neurosurg Clin N Am. 2007; 18(3):515-529.
2. Jog S, Patole S, Whitehall J. Congenital scoliosis in a neonate: can a neonatologist ignore it? Postgrad Med J. 2002; 78(922):469-472.
3. Debnath UK, Goel V, Harshavardhana N, Webb JK. Congenital scoliosis - Quo vadis? Indian J Orthop. 2010; 44(2):137-147.
4. Marks DS, Qaimkhani SA. The natural history of congenital scoliosis and kyphosis. Spine (Phila Pa 1976). 2009; 34(17):1751-1755.
5. Huang SW, Wu CL, Lin CC, et al. Effect of long term intermittent nocturnal non-invasive positive pressure ventilation on patient with severe kyphoscoliosis and hypoxaemia. BMJ Case Rep. 2009; 2009.
6. Fuschillo S, De Felice A, Martucci M, et al. Pulmonary rehabilitation improves exercise capacity in subjects with kyphoscoliosis and severe respiratory impairment. Respir Care. 2015; 60(1):96-101.
7. Casas A, Pavia J, Maldonado D. [Respiratory muscle disorders in chest wall diseases]. Arch Bronconeumol. 2003; 39(8):361-366.
8. Masini M, Maranhao V. Experimental determination of the effect of progressive sharp-angle spinal deformity on the spinal cord. Eur Spine J. 1997; 6(2):89-92.
9. Goldstein I, Makhoul IR, Weissman A, Drugan A. Hemivertebra: prenatal diagnosis, incidence and characteristics. Fetal Diagn Ther. 2005; 20(2):121-126.
10. Kawakami N, Tsuji T, Imagama S, Lenke LG, Puno RM, Kuklo TR. Classification of congenital scoliosis and kyphosis: a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment. Spine (Phila Pa 1976). 2009; 34(17):1756-1765.
11. Kusumi K, Turnpenny PD. Formation errors of the vertebral column. J Bone Joint Surg Am. 2007; 89 Suppl 1:64-71.
12. Sucato DJ. Management of severe spinal deformity: scoliosis and kyphosis. Spine (Phila Pa 1976). 2010; 35(25):2186-2192.