Sprengel disease

The upper limbs are supported by the shoulder girdle. It includes the clavicle, shoulder blade and muscle. The scapula connects the humerus with the clavicle. It is flat, triangular, and has the shape of a spade. The deformity of the shoulder joint, in which the scapula is located above its usual state, is deployed and looks like a wing, is called Sprengel disease by the name of a German surgeon who first described it. It is both one-way and two-way. 

Epidemiology

The prevalence of Sprengel disease is unclear, but some studies suggest that its prevalence is about 1 in 40,000 live newborns. [1]In addition, this syndrome affects men more often than women.[2]

Causes of the sprengel disease

The cause of the pathology lies in the violation of fetal development. This is a congenital disease. The blades of the embryo are high, but as it develops, the bone system grows, including the entire shoulder girdle. The paddles are lengthened, taking the place prescribed by nature. Disturbance of full growth of the fetus leads to Sprengel disease, often it is combined with other skeletal defects.[3]

Risk factors

The likely factors contributing to impaired embryo development are:

• genetic predisposition;
• harmful working conditions in production;
• infectious diseases;
• strong toxicosis;
• pathology of the uterus.

Pathogenesis

The pathogenesis of the development of Sprengel's disease was attempted by many scientists to explain, but this question has not yet been fully clarified, there are only speculations. [4]The only thing in which they converge is that the defect begins to develop in the early stages of pregnancy, before the appearance of the kidneys of the upper extremities (before the 4th-5th week). Embryologically, the scapula develops with the upper limb; it appears during the fifth week in the upper dorsal and lower cervical regions together with the primordium and descends to the final anatomical position to one of the second to eighth thoracic vertebrae to the 12th week of pregnancy.[5], [6]

Deformity is usually associated with hypoplasia or muscle atrophy, and a combination of these factors leads to disfigurement and functional limitation of the shoulder. There are 2 types of deformation: muscular and bone. The first case is less severe and touches the trapezius and rhomboid muscles, the second is directly related to the scapula bone.

Symptoms of the sprengel disease

The first signs of the disease become noticeable immediately after birth: the scapula (usually one) is shorter than the other, higher and strongly deformed. Movement of the hand up is limited.

Sprengel's disease imposes an imprint on the appearance of a short neck, low hairline, asymmetrical shoulders. Often, pathology is not limited to a cosmetic defect, but also pain arises due to excessive tension of the nerve fibers. Patients note the feeling of an obstacle when moving the scapula, in some cases, clicking sounds appear.

Stages

The cosmetic aspect of the deformity was classified by Cavendish into four degrees in an attempt to simplify the indications for treatment. [7]

• Grade I (very soft) - The level of the shoulders is the same; deformity is invisible when the patient is dressed.
• Grade II (mild) - Shoulders almost the same level; deformation, visible as a curvature of the neck when the patient is dressed.
• Grade III (Moderate) - The shoulder joint is raised by 2-5 centimeters; visible deformation.
• Grade IV (severe) - The shoulder joint is raised; upper angle of the scapula near the occiput.

Complications and consequences

Ignoring the disease of the shoulder girdle leads to further processes of its deformation. This impairs the mobility of the upper limbs, increases pain symptoms, and has a negative effect on other organs.

Diagnostics of the sprengel disease

Abnormal development of the blades can be seen with the naked eye. Instrumental diagnostics X-ray analysis reveals a partial or complete connection between the scapula and the cervical spine, the so-called omovertebral bone, which is observed in a third of patients. Computed tomography (CT) with three-dimensional (3-D) reconstruction and magnetic resonance imaging (MRI) are currently required for the diagnosis of coexisting pathologies and treatment planning.[8], [9]

Changes in the muscles of the back, which are confirmed by electromyography, are characteristic of advanced conditions.

Differential diagnosis

Differentiation of Sprengel's disease is carried out with a birth injury of the brachial plexus, Erb-Duchenne paralysis, and thoracic scoliosis.

Treatment of the sprengel disease

There are 2 directions of treatment of Spregel's disease: conservative and operative. In the early stages, with no pronounced changes and minor dysfunctions, they do without surgery, strengthen the muscles of the shoulder and chest, and efforts are also directed towards enhancing the motor activity of the upper extremities. Patients with bilateral deformities or deformations according to Cavendish 1 degree can be observed by an orthopedist to assess the dynamics of the development of the disease.

To do this, appoint a massage, swimming, physical therapy. Effective application of ozokerite, paraffin.

Surgery

The progression of deformity with age, the development of secondary changes in the shoulder girdle, the hypotrophy of his muscles, which was originally a pronounced pathology of bone and muscle tissue, is an indication for surgical treatment. Surgical intervention at the age of 2 is technically more difficult. [10], [11]Surgical intervention is best recommended for patients aged 3 to 8 years with moderate or severe cosmetic or functional deformity. The presence of concomitant congenital anomalies may be a contraindication to surgery.[12]

The purpose of surgical intervention for Sprengel deformation is cosmetic and functional improvement, however, the disease is often combined with other anomalies, such as torticollis and congenital scoliosis, which limit the amount of correction that can be performed.

There are more than 20 methods of surgical treatment of the disease, one of the most effective is to lower the scapula to the healthy level and fix it to the underlying rib, in particular, partial resection of the scapula and release of the long triceps head for treating Sprengel's deformity [13], fixing the upper angle of the scapula to the lower thoracic spine [14], vertical scapular osteotomy [15], surgical treatment by the method of Mirs [16], Woodward operation.[17]

Within 3 weeks, a plaster cast fixes the upper limb in a retracted position. From the fifth day, the patient is prescribed massage, UHF, electrophoresis. In 3 cases out of 30, complications were observed after surgery in the form of paralysis of the brachial plexus. [18]Within six months, as a result of drug and physiotherapy treatment, such neurological disorders passed.

Prevention

The main role in the prevention of further deformation of the blades, as well as after the operation belongs to physical therapy, swimming, volleyball. They are designed to adapt the back to physical exertion, strengthen muscles.

Forecast

A serious defect caused by Spregel disease, unfortunately, cannot be completely remedied. The prognosis is the more favorable, the earlier they turned to a specialist.