Some diseases accompanied by deformity of the spine

As already mentioned, deformity of the spine is often one of the symptoms of diseases of other organs and systems. We found it necessary to describe in this section some of these diseases, not so much focusing on the characteristics of the vertebral syndrome as on insufficiently known facts concerning the nosological forms themselves.

[1], [2], [3]

Hereditary systemic diseases of the skeleton

One of the most extensive groups of diseases, in which spinal cord injury is noted with high frequency, are hereditary systemic diseases of the skeleton (NSC). The classification of the NESC is based on three types of violations of bone formation:

• dysplasia - endogenous malformation of bone formation,
• dystrophy - a violation of bone metabolism,
• dysplasia-dysostosis - a mixed form of systemic disease associated with a developmental disorder that develops secondary to the primary developmental defect in the mesenchymal and ectodermal tissues.

Dysplasia. The localization of the zone of impaired bone formation in dysplasia is determined by the x-ray anatomy scheme Ph. Rubin (1964), which absorbs the following sections of the tubular bone: epiphysis, physis or the actual growth zone, metaphysis and diaphysis. Accordingly to these zones, MV. Volkov identified epiphyseal, fizarnye, metaphyseal, diaphyseal and mixed lesions. In addition, taking into account the systemic nature of the pathology, dysplasias proceed with the obligatory presence of vertebral syndrome (systemic spondylodysplasia) and dysplasia, in which spinal cord injury is possible, but not necessary.

Dystrophy. To hereditary dystrophies, which occur with the defeat of bone tissue, including the spine, include deforming osteopathy Paget, marble disease, hereditary osteopenia, etc. Changes in the spine at the same time correspond to the general bone changes characteristic of these diseases. To this group include mycopolysaccharidosis - a violation of glycosaminoglycan metabolism. The diagnosis of mucopolysaccharidosis is confirmed by medical genetic examination and determination of the level of glycosaminoglycans of different types. With the defeat of the spine proceed:

• mycopolysaccharidosis type I-II - Pfundler-Hurler syndrome and type II - Hunter syndrome. Clinically, they are characterized by kyphotic deformation of the thoracolumbar region ("cat's" back), radiographically - wedge-lingual form of the T12-L2 vertebrae (usually one or two in this zone);
• Mucopolysaccharidosis type IV - Morkio syndrome (Morquio). The clinical and radiologic picture is the same as in the spondyloepiphysial dysplasia of Morquio-Brailsford.
• mucopolysaccharidosis of the VI type - the Maroto-Lamy syndrome (Maroteaux-Lamy). The back with this disease is direct, sometimes kyphosed. Radiographically biconvex vertebrae, gradually acquiring a cuboidal shape, but having a characteristic depression of the posterior closure plate of the lumbar vertebrae. In the thoracolumbar section, posterior wedge-shaped vertebrae are revealed. Possible hypoplasia of the tooth C2.

Mixed forms of systemic diseases of the skeleton (dysplasia-dysostosis)

The names of the diseases related to this group (cranial-clavicular, trichorinopharyngeal and chondroectodermal dysplasia, maxillofacial and spondylocostal dysostosis) have developed historically and rather reflect the localization of affected organs, rather than the essence of pathological processes. Spinal cord dysostosis proceeds with spinal cord injury, which is characterized by short stature, shortening of the neck and trunk, presence of scoliosis, deformation of the thorax. X-ray examination reveals multiple malformations of the vertebrae (more often - mixed variants) and ribs (more often - blocking the posterior sections).

Arnold-Chiari anomaly

Chiari anomaly (in the domestic literature the term "Arnold-Chiari anomaly" is adopted) is a developmental disorder characterized by displacement of the brain elements in the cranial part of the cervical spinal canal. WJ Oakes (1985) identifies several types of anomalies.

Types of Arnold-Chiari anomalies

Type of anomaly	Characteristic
Type1	Caudal mixing of the cerebellar tonsils below the level of the large occipital opening
Type 2	The caudal displacement of the cochlea of the cerebellum, the 4th ventricle and the brainstem below the line of the large occipital foramen is usually combined with myelodysplasia
Type 3	Caudal displacement of the cerebellum and brainstem in the upper cerebrospinal hernia
Type 4	Cerebellar hypoplasia

The cause of the development of the Arnold-Chiari anomaly can be both the developmental defects of the craniovertebral zone, and any options for fixing the spinal cord. Disturbance of liquorodynamics in the craniovertebral zone with the Arnold-Chiari anomaly leads to a disruption in the resorption of the cerebrospinal fluid and the formation of cysts (see syringomyelia) within the spinal cord. Vertebral syndrome is characterized by the presence of deformities of the spine, often atypical.

[4], [5], [6], [7], [8], [9], [10]

Syringomyelia

Until recently, syringomyelia (from the Greek syrinx - puff) has been considered as an independent chronic disease of the nervous system associated with the development of cysts (hydrosiringomyelia) in the zones of pathological growth and subsequent decay of glial tissue. The introduction into clinical practice of magnetic resonance imaging and a more detailed study of this pathology makes it possible to consider the development of cysts within the spinal cord not as an independent disease but as a symptom of various diseases.

Vertebral syndrome with syringomyelia is characterized by the presence of atypical (left-sided) scoliotic deformities of the thoracic region and early neurologic symptoms, the first of which usually appears asymmetry of abdominal reflexes. Genesis of vertebral syndrome can be associated with both the primary disease that led to the development of syringomyelia, and the violation of its own segmental innervation of the spine due to cystic spinal cord injury. In this section, we consider it necessary to bring the etiological classification, as well as the tactical-diagnostic and therapeutic algorithms of syringomyelia, developed by F. Denis (1998). In the author's opinion, the primary treatment for syringomyelia should be the treatment of the pathology that caused it. In the event that it is successful, no additional treatment is required. If primary therapy is not effective, the main methods of secondary treatment are drainage of cysts and syringo-subarachnoidal shunting.

Neurofibromatosis

Neurofibromatosis (NF) is a disease of the peripheral nervous system characterized by the development of typical neurogenic tumors (neurofibroma) or atypical accumulations of pigment cells (coffee stains, melanoma-like tumors) embryogenetically associated with paravertebral sympathetic ganglia. In the clinical classification of neurofibromatosis, two types of disease are identified: peripheral and central. It should be remembered that in patients with neurofibromatosis, malignant primary tumor nodes are not only possible but also a high risk of leukemia development is genetically determined.

For vertebral syndrome in neurofibromatosis is characterized by the development of rapidly progressive, usually mobile kyphoscoliotic deformations. It should be remembered that the presence of pathological nodes within the spinal canal often leads to neurological disturbances both in the natural course of deformation and in attempts at its conservative or operative correction. The possibility of these complications must be taken into account by the doctor when drawing up a plan of examination and treatment of a patient with neurofibromatosis, and the patient and his parents should be informed about it.

Syndromes of systemic hypermobility

Syndromes of systemic hypermobility include a group of diseases that occur with a deficiency of the connective tissue fixation apparatus of the skeleton and internal organs (the so-called syndromes of mesenchymal disorders) - the syndromes of Marfan, Eilers-Danlo (Ehlers-Danlos), etc. For skeletal lesions, the development of coarse , but mobile scoliosis or kyphoscoliosis, asymmetric deformations of the chest, joint deformities and arthropathies. F. Biro, H.LGewanter and J. Baum (1983) determined the pentad of systemic hypermobility features:

• when the thumb is drawn, the hand touches the forearm;
• the possibility of passive extension of the fingers of the hand to the position where the fingers are parallel to the forearm;
• overextension in the elbow joints more than 10 °;
• over-extension in the knee joints more than 10 °;
• The possibility of touching the floor with unbent knee joints in the standing position.

For the diagnosis of "hypermobility syndrome - a combination of at least four of the five listed symptoms.

It should be remembered that in patients with systemic hypermobility syndromes in surgical treatment, the period of adaptation of transplants is sharply slowed and the risk of their resorption is high. For this reason, deformations of the spine and thorax recur in such patients after osteoplastic operations much more often than deformations not associated with systemic hypermobility.