Clinical and radiological manifestations of progressive fibrodysplasia ossificans in children

29.01.2021

Myositis is inflammation of the muscles, accompanied by local pain during movement or palpation. Trying to protect the affected area on its own, the body increases muscle tension, which limits joint mobility, and subsequently weakness and atrophy of the damaged muscle may develop.

Muscle inflammation does not stop at one location or cause. Myositis often occurs as a consequence of infectious and autoimmune diseases. The course of the disease can be either acute or chronic, with skin rashes. With local infection, there is a high probability of development of purulent processes in the muscles.

Every person suffers from myositis at least once in their life. But in most cases, the disease remains undiagnosed, because the patients themselves define the pain as an exacerbation of osteochondrosis of the cervical or thoracic regions. Severe forms of myositis require long-term treatment and hospitalization, so you should not turn to self-diagnosis and self-medication for myositis.

Causes

Myositis is caused by various conditions that lead to inflammation in the muscles. The causes of myositis can be divided into several main groups:

Inflammatory diseases causing myositis

Diseases that cause inflammation throughout the body can affect the muscles, causing myositis. Many of these conditions are autoimmune diseases, in which antibodies have a damaging effect on the body's own tissues. Inflammatory diseases causing potentially severe myositis include:

• Dermatomyositis
• Polymyositis
• Myositis ossificans (Munchmeyer's disease)

Other inflammatory diseases can cause more mild forms of myositis:

• Systemic lupus erythematosus
• Scleroderma
• Rheumatoid arthritis

Inflammatory diseases are the most serious causes of myositis, requiring long-term treatment.

Infectious myositis

Viral infections are the most common infection that causes myositis. Much less commonly, myositis can be caused by bacteria, fungi or other microorganisms. Viruses or bacteria can directly affect the muscles themselves or through secreted toxins. Acute influenza viruses, as well as the immunodeficiency virus, can also cause myositis .

Medicines that cause myositis

There are many medications that can cause permanent muscle damage. Since it is not possible to confirm the inflammatory process in such cases, these conditions are sometimes called myopathy rather than myositis. Medications that cause myositis and/or myopathy include:

• Statins
• Colchicine
• Plaquenil
• Alpha interferon
• Cocaine
• Alcohol

Myopathy may appear immediately after starting medication or after some time (several months), especially when it comes to drugs. As a rule, drug-induced myositis is rarely severe.

Myositis after injury . Intense exercise, especially with untrained muscles, can lead to muscle pain, swelling and weakness for hours or days after exercise. Inflammation in the muscles is associated with microtears in the muscle tissue and, as a rule, the symptoms of such myositis quickly disappear after sufficient rest. Sometimes, with severe muscle damage, necrosis of muscle tissue is possible. This condition is called rhabdomyolysis. It occurs when a large group of muscles is damaged and is accompanied by a general reaction of the body to necrotic muscle tissue. Myoglobin molecules can change the color of urine from brown to red.

Classification

In clinical practice, several classifications of muscle myositis are used, which are based on the etiology, characteristics of symptoms and the course of the disease.

Depending on the origin, all myositis is divided into the following forms¹:

• Infectious purulent. Variants of myositis caused by pathogenic bacteria, in which the inflammatory process is accompanied by the formation of purulent-necrotic masses.
• Infectious non-purulent. Inflammation of striated muscles of infectious origin (most often viral), in which purulent masses do not form. They occur more easily than purulent forms.
• Parasitic. Muscle myositis, which is the result of toxic-allergic reactions and characteristic changes caused by infection with protozoa.
• Myositis ossificans. A characteristic difference is the deposition of calcium salts in the connective tissue. The shoulders, hips and buttocks are most often affected.
• Polymyositis. A variant of autoimmune myositis, in which a large number of muscles become inflamed at once. In children, such myositis can be combined with damage to the lungs, heart, blood vessels and skin, and in adults it is often associated with malignant tumors of internal organs.
• Dermatomyositis or Wagner's disease. An independent autoimmune pathology, in which, in addition to inflammation of the striated muscles, the skin, smooth muscles and internal organs are also affected.

Depending on the prevalence of the pathological process, the following are distinguished:

• Local myositis. More often they are of traumatic and infectious origin. Accompanied by inflammation of one or more adjacent muscles.
• Diffuse or generalized. Inflammation of skeletal muscles in different parts of the body differs. In most cases, they are associated with autoimmune pathologies.

Based on the activity and nature of inflammation, myositis is divided into the following options:

• Spicy. They are characterized by a debut with pronounced symptoms.
• Subacute. They often appear gradually, but progress relatively quickly.
• Chronic. They can be the result of acute myositis or develop independently, accompanied by moderate persistent symptoms.

Figure 1. Exercises for the neck: maximum turns of the head to the right and left (5 times), slow tilts of the head to the shoulders to the right and left (5 times in each direction). Dynamic resistance of the neck and palms to head tilts in different directions. Image: cteconsulting/Depositphotos

Symptoms of myositis

The main symptom of myositis is muscle weakness. The weakness may be obvious or only discovered during testing. Muscle pain (myalgia) may or may not be present.

Dermatomyositis, polymyositis and other inflammatory diseases accompanied by myositis are manifested by muscle weakness with a tendency to gradually increase over weeks or months. Muscle weakness can affect numerous muscle groups, including the neck, shoulders, hips, and back muscles. Typically, there is bilateral muscle weakness.

Muscle weakness from myositis can lead to falls, and even difficulty performing simple motor functions such as getting up, from a chair or from a bed. Other symptoms of myositis that may be present with inflammatory diseases include:

• Rash
• Fatigue
• Thickening of the skin on the hands
• Difficulty swallowing
• Breathing problems

Patients with myositis caused by a virus usually have symptoms of the viral infection, such as a runny nose, sore throat, cough, nausea, and diarrhea. However, symptoms of a viral infection may disappear several days or weeks before symptoms of myositis appear.

Some patients with myositis have muscle pain, but often there is no pain. Half of patients with myositis due to an inflammatory disease do not have intense muscle pain.

Most muscle pain is not associated with myositis, but with muscle overstrain or a reactive reaction to acute respiratory diseases (acute respiratory infections or influenza). These and other common muscle pains are called myalgias.

Treatment depending on location

Myositis affects any muscle group. The set of therapeutic measures depends on the location of the pathology.

Pain concentrated in the cervical spine indicates myositis of the neck. A sample list of assignments would look like this:

• anti-inflammatory drugs for internal use;
• local application of creams and ointments with a warming, antispasmodic, analgesic effect;
• massage to eliminate spasms, restore blood circulation, improve neck mobility;
• physiotherapeutic procedures to speed up recovery.

The inflammatory process in the muscles of the back and lumbar region most often occurs as a result of a cold, hypothermia, or after high physical activity. Myositis is differentiated from kidney diseases, spinal osteochondrosis, and then treatment is prescribed. The therapy program stipulates bed rest and restriction of movements for the duration of acute pain. Analgesics are prescribed in the form of injection blockades and for internal use, NSAIDs, hardware muscle traction, and reflexology.

Myositis of the chest is often accompanied by an increase in body temperature. Under these conditions, the patient is prescribed bed rest. The main task is to stop the cause of inflammation. To alleviate the condition, painkillers and anti-inflammatory drugs are prescribed. If there is a bacterial component, antibiotic treatment is carried out. For autoimmune pathology, the treatment program includes immunosuppressants and glucocorticosteroids. Electrophoresis of the thoracic region is prescribed as maintenance therapy during recovery. Acupuncture and hirudotherapy have a good effect.

For myositis of the extremities, muscle rest is provided at the initial stage of treatment. It is necessary to exclude any stress on muscles and joints. Injections and external agents are used for pain relief. To relieve the inflammatory process, NSAIDs are prescribed. Thermal procedures are indicated in the absence of swelling and redness. After stopping the acute process, massage procedures, exercise therapy, and reflexology are allowed.

Shoulder myositis is also treated comprehensively: anti-inflammatory therapy, anesthetics, and physiotherapy are used. Additionally, kinesiotherapy can be prescribed - a rehabilitation technique, a type of physical therapy, the purpose of which is to reduce muscle tension, reduce inflammation, and increase mobility. Kinesiotherapy also includes various types of therapeutic massage. The technique is effective for severe pain and functional disorders of the limbs and spine. If the shoulder joint is affected at the same time as the muscle tissue, chondroprotectors and massage products are used for external use.

Diagnostics

A doctor may suspect myositis based on symptoms such as muscle weakness, pain, and other symptoms consistent with myositis. The following are used in the diagnosis of myositis:

Blood tests. Elevated levels of muscle tissue enzymes (eg, creatine kinase) may indicate muscle tissue damage. Autoantibody tests can identify autoimmune disease.

Magnetic resonance imaging (MRI). A scan using a powerful magnet and a computer produces images of the muscles. MRI analysis helps identify areas of muscle damage currently and over time.

Electromyography (EMG). By inserting needle electrodes into the muscles, the doctor can test how the muscles respond to electrical stimulators and nerve impulses. EMG allows you to identify muscles that are weak or damaged by myositis.

Muscle biopsy. This is the most accurate analysis for diagnosing myositis . The doctor identifies the weak muscle, makes a small incision, and removes a small piece of muscle tissue to examine the tissue under a microscope. A muscle biopsy provides a definitive diagnosis of myositis .

There are many causes of muscle weakness and muscle pain more common than myositis. And therefore, the diagnosis of myositis may not be made immediately, but after some time.

Rehabilitation of the patient after therapy for neck myositis

After treatment, experts recommend that patients:

• during therapy and upon its completion, remain at rest and do not unnecessarily strain the neck muscles;
• follow a strict diet high in proteins, vitamins and microelements;
• periodically do therapeutic exercises. An exercise program can be developed by a rehabilitation physician;
• gradually increase physical activity;
• avoid injury and hypothermia.

Treatment

Treatment for myositis depends on the cause of the disease.

The inflammatory (autoimmune) diseases that cause myositis often require treatment with drugs that suppress the immune system, including:

• Prednisone
• Imuran
• Methotrexate

Myositis caused by an infection, usually viral, does not require treatment. Myositis caused by bacteria is not common and requires treatment with antibiotics (up to intravenous administration in order to avoid a dangerous condition for the body such as sepsis).

Although acute necrosis of skeletal muscle is rare with myositis, if rhabdomyolysis is present, it is necessary to hospitalize the patient because large fluid infusions must be administered to prevent kidney damage.

Drug-related myositis is treated by stopping the medications. In cases of myositis caused by statin drugs, muscle inflammation decreases within a few weeks of stopping the drug.

Treatment of myositis in the Solnechny sanatorium

Good treatment results are achieved through an integrated approach and a developed therapy program. All conditions for high-quality diagnosis and treatment of myositis have been created in the Solnechny sanatorium in the Republic of Belarus. This is a specialized medical institution specializing in diseases of the musculoskeletal system. A powerful therapeutic base includes a variety of techniques, including hydrotherapy, mud therapy, physiotherapy, physical therapy, ultrasound and laser effects on the body. A variety of treatment and rehabilitation programs are carried out using the latest equipment. Clients are offered a balanced diet. All this, coupled with a healing climate, gives excellent healing results.

Functions of the trapezius muscle

The functions of the trapezius muscle provide movement and static movement of the shoulder, scapula and neck. For example, we use this muscle if we want to straighten our shoulders and straighten our neck, or when we bring our shoulder blades together and throw our head back, or when we move our shoulders up and down and back and forth. While walking, we swing our arms, and the muscle works dynamically, and if we are sitting at a computer, it works statically. And even when we just stand with our arms down, the muscle also works to provide an anti-gravity effect. By the way, precisely in order to relieve tension and relieve the trapezius muscle, we automatically fold our arms on our chests or put them in our pockets.

Speaking about the anti-gravity function of the trapezius muscle, it becomes clear why, when working at a desk, you need to make sure that your elbows are not suspended - otherwise the weight of your arms will cause overload. And, if this is repeated day after day and continues for many hours, then the appearance of pain cannot be avoided. This is about the cause of pain in the trapezius muscle. The same can be said for driving – your elbows should not be hanging.

The “cervical” function of the trapezius muscle provides turns and tilts of the head. Therefore, the monitor and TV screen should be located directly in front of us. This will also prevent the development of pain and pathology. And, by the way, the habit of holding the phone with your ear also causes pain in the trapezius muscle.

Anatomy of the trapezius muscle

The anatomy of the trapezius muscle indicates that the muscle is indeed shaped like a trapezoid. To be precise, we have two trapezius muscles - left and right. Each individually has the shape of a triangle, with its apex facing the shoulder joint and its base facing the spine. Connecting together at the spine, they form a trapezoid. Recall that a trapezoid is a quadrilateral in which two sides are parallel and the other two are not. By the way, due to the fact that there are not one, but two muscles, situations are possible when the trapezius muscle hurts on the left, on the right, or on both sides.

The anatomy of the trapezius muscle involves dividing the muscle into three parts: upper, middle and lower. The upper part is usually called the trapezius muscle of the neck, and the middle and lower part are called the trapezius muscle of the back. But let us immediately clarify that this division is not official - for documents, but colloquial - for ease of use in speech. In general, the trapezius muscle is one of the largest muscles. Starting from the back of the head, it extends to the lower thoracic vertebra, while, covering the top of the shoulder girdle, it reaches the collarbone.

Characteristics/Clinical picture

Typical symptoms of trapezius myalgia are:

• Sudden onset of pain.
• Muscle stiffness and spasms.
• Tightness of the cervico-brachial region.
• Heaviness in the head and headache in the occipital region.
• Soreness of the upper trapezius muscle.

Other signs:

• Bad mood.
• Anxiety.
• Paresthesia.

It is noteworthy that the intensity of pain usually decreases after moderate exercise.

Clinical and radiological manifestations of progressive fibrodysplasia ossificans in children

Fibrodysplasia ossificans progressiva (FOP), myositis ossificans progressiva (OPM), Munchmeyer's disease, disease of the “second skeleton” is a rare, congenital, disabling disease with an incidence of 1 in 2 million people.

Fibrodysplasia is characterized by congenital bone pathology and progressive heterotopic ossification of muscles, tendons, ligaments, and aponeuroses [1, 2]. There is no racial, gender or geographic predisposition. The disease most often occurs as a result of a spontaneous new mutation. Hereditary transmission is autosomal dominant, maternal mosaicism is possible.

In 2006, a predominantly same heterozygous mutation (c.617G>A; p.R206H) was discovered in the glycine and serine residue (GS) of the activin A receptor type 1 (ACVR1)/activin-like kinase 2 (ALK2) activation region ) receptor type 1 bone morphogenetic protein (BMP), regarded as a genetic cause of FOP. Seven additional mutations were subsequently identified in the GS region and ACVR1 kinase region in patients with “atypical” forms of the disease [3, 4].

The c.617G>A mutation results in the replacement of arginine by histidine at codon 206 (p.R206H). Structural homology modeling of proteins predicts that amino acid substitution leads to conformational changes in the receptor, which causes changes in its sensitivity and activity [3].

In FOP, active production of CMP-4 is expected above a threshold, which explains excessive ossification and ectopic bone formation postnatally [4].

Congenital phenotypes caused by FOP metamorphosis include a number of congenital deformities (deformations) and skeletal anomalies: deformed big toe (the main diagnostic sign of the disease), metaphyseal dysplasia, short phalanges, short thumbs, synostosis - symphalangism of the fingers, fusion of the surfaces of the cervical joints , fusion of costovertebral joints, proximal medial tibial osteochondromas, short wide necks of the humerus, sparse hair, deafness, etc. [1, 4, 5].

In the domestic literature, there are isolated studies on the development of FOP in children, mainly at school age [6–8].

In this report, we present the most typical clinical and radiological manifestations of FOP in 30 children aged 1.5 to 14 years, observed in the clinic of pediatric diseases of the First Moscow State Medical University named after. I. M. Sechenov in 1968–2010 and two cases with the identified FOP gene.

Children complained of the appearance of soft elastic formations on the head, which gradually spread down and became denser. The onset of the disease was often accompanied by malaise, low-grade fever, painful lesions, their gradual hardening, increasing general stiffness and contractures in the area of ​​large joints. The speed of spread of the process ranged from 2–3 months to 3–5 years.

In some patients, spontaneous disappearance and/or recurrence of lesions was observed, in others the process steadily progressed. Gradually, the children seemed to be enveloped in a bone shell, a “second skeleton”, became inactive, had difficulty dressing independently, eating, changing position in space and eventually became disabled, dependent on the help of adults (Fig. 1, 2). Children of preschool age could lag behind their peers in development; older children were more withdrawn, but did well in school.

Sharp skeletal deformation, kyphoscoliosis, contractures in the joints, multiple ossifications on the back in an 8-year-old girl and a 14-year-old boy (own observations, 1970s)

Rice. 1. Photos of the first patients with FOP

About half of the children had a typical sign of the “classic” variant of FOP: pathology of the first toes: shortening, subluxations, symphalangism, monophalangism, etc.

Rice. 2. Contractures and extraskeletal bone formations on the back and anterior surface of the abdomen in two patients, 10 and 1.5 years old

Radiographs revealed extraskeletal, bone-density shadows (ossifications), both single and merging into large conglomerates. Typically, multiple linear shadows of bone density were detected, localized in the soft tissues of the extremities and trunk. Often the shadows intertwined with each other like the branches of a tree. The most common locations were the lateral surfaces of the chest and the inner surfaces of the shoulders, with the formation of synostoses between each other in the form of a “bridge” (Fig. 3). In young children, this localization was primary. Single or multiple exostoses were also common.

Rice. 3. Ossification on the lateral surfaces of the chest in the form of a bridge in a 2-year-old child

Basic laboratory parameters, including general and biochemical blood and urine tests (including enzymes and mineral metabolism indicators), levels of thyroid and parathyroid hormones, remained normal.

Treatment was carried out with corticosteroid hormones (prednisolone or methylprednisolone at a dose of 0.5–1 mg/kg per day) in short courses, non-steroidal anti-inflammatory drugs (NSAIDs), intravenous administration of a 5% solution of disodium salt of ethylenediaminetetraacetic acid (Na2 EDTA), 10% solution of Xidifon orally and/or locally by electrophoresis or ointment with Xidifon. In recent years, new generation bisphosphonates (disodium pamidronate or Aredia, Bonefos, Bonviva, etc.), antileukotriene drugs (montelukast) and mast cell blockers (cromolyn sodium) have been used.

We present interesting observations of two patients examined genetically in 2010.

Patient 1, aged 14, came to the clinic in June 2010.

The mother's pregnancy proceeded normally, but at the end swelling of the legs appeared, A/D - 150/100 mm Hg. Art., weight gain 10 kg. Due to the baby's head tilting, a cesarean section was performed (12-hour anhydrous period). Birth weight 3200 grams, length 53 cm, head circumference 36 cm. He grew and developed satisfactorily. He has been sitting since he was 6 months old, started walking at 10 months old, and his first tooth erupted at 4 months old. Weight at one year 11 kg, speech from 1 year 3 months. Breastfeeding for 2 months, then artificial, mild anemia was diagnosed.

For all vaccinations, except for the Mantoux reaction, a rise in temperature to 39–40 °C was noted. During DPT, the buttock became swollen (like “glass”).

Illnesses suffered before school - chicken pox, mononucleosis, later - ARVI.

At the age of two, a diagnosis of congenital valgus deformity of the big toes was made, and an operation was performed to straighten the subluxation of the first toe of the left foot (a pin was inserted).

At the age of 5 he was diagnosed with Perthes disease, an exostotic disease.

At the age of 6, an operation was performed to remove “growths” (exostoses) on both sides on the back surface of the knee joints. But a relapse occurred, and new lesions appeared in the front.

At the age of 9, due to a bruise (falling from a bicycle), my left leg began to bend poorly at the knee and I began to limp.

Bilateral sensorineural hearing loss was diagnosed at the age of 11.

At the age of 14 (April 2010), a lump appeared on the left side of the neck. During surgery, a strand of cartilaginous density was identified in the sternocleidomastoid muscle. The biopsy material was consulted at the Russian Cancer Research Center of the Academy of Medical Sciences of the Russian Federation: there is no evidence of a tumor.

Consulted at CITO in May 2010, exostoses and limitation of movements in the left sternocleidomastoid muscle were determined.

Ultrasound of the left sternocleidomastoid muscle (05/21/2010) - in its middle sections, an area of ​​altered structure is identified, covering the entire thickness of the muscle over 5.2 cm with compaction, decreased echogenicity, and without a characteristic fibrous structure; higher and lower in the muscle tissue there are areas of hyperechoic muscle inclusions (postoperative changes against the background of specific myositis). On the right are similar inclusions.

Ultrasound of the anterior surface of the right thigh - at the level of the upper third - ossification (2.8 × 0.3 cm in thickness), in the soft tissues of the back on the right, at the level of the lower thoracic vertebrae - ossification, similar in structure.

Upon completion of the examination and face-to-face consultation at the Russian Cancer Research Center. N. N. Blokhin in May 2010, progressive myositis ossificans was suspected.

During a consultation with a geneticist, a diagnosis was made: “fibrodysplasia ossificans progressiva with an autosomal dominant type of inheritance in the pedigree “de novo.” The phenotype includes thickening of the muscles in the neck, back, and right thigh, from the age of 9 years, osteochondral exostoses in the upper third of the tibia and the lower third of the left thigh, congenital anomaly of the first fingers and toes (shortening, stiffness in the interphalangeal joints), shortening and expansion of the neck of the femur.

He was examined on an outpatient basis at the clinic of children's diseases (06/15–17/2010).

On examination, the boy is of good height and well-nourished (height 160 cm, weight 60 kg). Complains of difficulty turning the neck and bending the body forward. Feels awkwardness in the back and pelvis when walking and feeling, limps on the right leg.

The skin is clean with traces of tan. Shortening of the big toes and hands with subluxation on the legs - halux valgus (Fig. 4). There is a lump on the neck in the area of ​​the left sternocleidomastoid muscle with a scar in the center. Turning left is difficult. Tilt the torso forward only to a horizontal level. On the right side of the front thigh there is a thickening of the muscle. On the back on the right, at the level of the 6th thoracic vertebra, a bone cord about 5–7 cm long is identified, without connection with the spine. Lymph nodes are not enlarged. From the lungs, heart, abdominal organs without pathology.

On the R-gram of the feet: on the right - hallux valgus deformity of the first toe, the main phalanx is significantly shortened, thickened, and displaced laterally (subluxation). On the left - deformation of the head of the metatarsal bone and the proximal phalanx of the first toe (after surgery). The joint space is unevenly narrowed (Fig. 4).

On the left – deformation of the head of the first metatarsal bone and the main phalanx of the first toe after surgery at the age of 2 years. On the right, shortening and subluxation of the main phalanx of the first toe (Halux valgus)

Rice. 4. Patient 14 years old. Shortening of big toes

On an x-ray of the hip joints with coverage of 2/3 of the femurs, the heads of the femurs are flattened, the left one is displaced laterally. On the left, the roof of the acetabulum is sloping. Thickening of the cortex in the femurs. In the projection of the neck and upper half of the diaphysis of the femur on the left, shadows of bone density are determined in the soft tissues. On the right - single shadows in the projection of the femoral neck (

).

On radiographs of the hands, the relationship of the bones is not disturbed. Metaepiphyseal osteoporosis is noted. The metacarpal bones are shortened. On the left, the main phalanx of the first finger is shortened, hypoplasia of the epiphysis. The middle phalanges of the fifth fingers are curved.

EchoCG (06/17/2010). The dimensions of the heart cavities and myocardial thickness are within normal limits. Systolic and diastolic functions of the left ventricle are not impaired. Pulmonary artery pressure is normal. Along the anterior wall of the right ventricle, the minimum divergence of the pericardial layers in diastole is 1.3–1.5 mm. MARS: accessory basal chords and trabeculae in the cavity of the left ventricle. The Eustachian valve is lengthened.

Clinical diagnosis: “Fibrodysplasia ossificans progressive. Classic shape. Late stage. Congenital anomalies of the big toes: shortening and thickening of the main phalanges with subluxation (Halux valgus) and hands (shortening of the metacarpal bones and the main phalanx of the first finger on the left with hypoplasia of the epiphysis. Curvature of the middle phalanges of the fifth fingers). Osteochondral exostoses on the left at the level of the lower and upper thirds of the femur. Shortening and widening of the neck of the femur. Multiple extraskeletal bone formations (ossifications) in the thickness of the muscles of the back, hips, and neck.

MARS: accessory basal chords and trabecula in the cavity of the left ventricle, elongation of the eustachian valve. Bilateral sensorineural hearing loss.

In the DNA diagnostics laboratory: the Arg206 His mutation was found in the ACVR1 gene.”

Conclusion. The child was observed for a long time with diagnoses of congenital hallux valgus, exostotic disease, Perthes disease, suspected neck tumor with a biopsy of a changed area of ​​the sternocleidomastoid muscle; received all vaccinations and vaccinations, despite a high fever for each administration of vaccines, did not comply with the necessary gentle motor regimen, was repeatedly injured, underwent numerous radiation studies, operations, and only after 14 years the diagnosis of FOP was verified and confirmed genetically.

Currently, he is recommended a gentle motor regimen, avoidance of all intramuscular injections, manipulations in the lower jaw, prevention of acute respiratory viral infections (Arbidol, sanitation of the nasal cavity - rinsing with sea water, drops - Marimer, vaccination during an influenza epidemic subcutaneously or intranasally), swimming in the pool with sea water or at sea, the use of prednisolone (2 mg/kg for 5–7 days) and bisphosphonates (Aredia) if new ossifications occur, registration of disability and dynamic observation in a specialized hospital.

The second patient has been under clinical supervision since 1 year 3 months.

History: mother, 27 years old, healthy, father, 39 years old, suffers from bronchial asthma and alcohol addiction. At the 18th week of pregnancy, the mother suffered from influenza and was subsequently hospitalized in the pregnancy pathology department due to disproportionate development of the head. Childbirth on time, physiological. The child's weight is 2530 g, length is 48 cm. Apgar score is 8–9. He screamed right away. Breastfeeding for 8 months, hypogalactia was noted. From early childhood, holding the head in a position on the stomach, at 3 months - massage due to hypertonicity of the neck muscles. Sits from 7 months, walks from 12 months, teeth from 5 months.

At the age of 5 months, he fell off the couch without consequences. Later, at 12 months, he fell again and hit his forehead. At the site of the injury there was swelling the size of a chicken egg. I received hydrocortisone and topical lotions with effect.

X-ray and tomography revealed a congenital anomaly of C1–C2 - deformation of the vertebral bodies in the form of platyspondylia, nonfusion at the level of the posterior sections (spina difida posterior), hypoplasia of the odontoid process of C2.

When echocardiography shows, the size of the heart chambers is higher than the age norm (high-nutrition boy: weight 15 kg at 1 year 2 months). Additional chord in the left ventricle.

At the initial examination, the child is in good physical development, has increased nutrition, is mobile, and sociable. There is “stiffness” and elevation in the shoulder girdle, tension and tightening of the neck muscles, limitation in turning the head and bending back. Movements in the joints of the limbs are not limited, there are no deformities. Squats, walks, runs freely. The skin and mucous membranes are clean. Teeth 10/8. The internal organs showed no pathology, hypospadias was detected.

There are diagnostic signs of the classic form of FOP - shortened big toes with subluxation (Fig. 6), as well as congenital pathology of the cervical vertebrae and hypospadias.

Rice. 6. Shortening and valgus deformity of the first toes in a 1.5-year-old patient

General blood and urine tests, biochemical blood tests are within normal limits.

Genetic examination revealed the presence of the Arg206His mutation in the ACVR1 gene, characteristic of the classic variant of FOP.

Clinical diagnosis: “Fibrodysplasia ossificans progressive. Classic shape. Early stage. Initial phase of the disease. Recurrent tumor-like formations on the head and neck. Cartilage-like elements in the form of longitudinal elastic cords (shadows on radiographs) in the soft tissues of the shoulder girdles and along the spine. Congenital bone abnormalities: shortening of the big toes. Underdevelopment of the odontoid process of the 2nd cervical vertebra. Platyspondyly and nonfusion of the posterior parts of the C1–C2 bodies. Hypospadias. Mutation Arg206 His in the ACVR1 gene."

The child is observed for a year. The disease does not progress. From time to time, elastic “tumors” appear on the head due to minor injuries, which quickly disappear when using ointment with Xydifon. A waiver has been given from all intramuscular vaccinations and vaccinations. A protective motor home regime is recommended. For falls and the formation of soft tumors on the head - ointment with Xidifon, NSAIDs orally, antileukotrienes. Dynamic observation in the clinic for therapy correction. Registration of childhood disability.

Thus, our observations indicate insufficient familiarity with FOP among doctors of various specialties - pediatricians, surgeons, orthopedists, which leads to lengthy verification of the diagnosis, unnecessary interventions and soft tissue injuries (surgeries, biopsies, intramuscular administration of drugs, vaccinations).

Summarizing the literature and our own data, the main factors for diagnosis should be considered to be the presence of congenital pathology of the big toes (often in combination with pathology of the fingers) and extraskeletal ossifications. In preschool children, as a rule, they appear on the neck, shoulder girdle and gradually spread downwards. In older children, ossification can appear in any area of ​​soft tissue (muscles, tendons, etc.), more often as a result of injuries of any origin or against the background of influenza and ARVI. If FOP is suspected, a search for mutations in the ACVR1 gene is necessary.

Unfortunately, the prognosis of the disease is unsatisfactory. It is very important to follow all preventive measures to avoid any soft tissue injuries and to prevent acute respiratory viral infections and influenza, which can accelerate the progression of the disease and provoke pulmonary heart failure.

Currently, a community of scientists is actively developing and testing (in experiments and on animals) drugs that have the ability to block mutations in the ACVR1 gene, which will prevent or interrupt heterogeneous ossification and improve the condition of patients.

Literature

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T. V. Ryabova, Candidate of Medical Sciences N. A. Geppe , Doctor of Medical Sciences, Professor G. V. Mikhaleva I. G. Sermyagina First Moscow State Medical University named after. I. M. Sechenova, Medical Genetic Research Center of the Russian Academy of Medical Sciences, Moscow

Contact information for authors for correspondence

Trapezius syndrome

Pain in the trapezius muscle is not always limited to just the muscle area.
For example, this muscle can cause pain in the ear, eye or lower teeth, and it is also a common cause of headaches. Moreover, all these pains are felt not as radiating from the back to the head or teeth, but as completely independent toothaches or headaches. And, in general, the trapezius muscle is perhaps the most common source of pain in our body. This is due to the fact that the muscle performs many different functions and is often overloaded. Overwork and overload open the door to illness. It has been established that pain in the trapezius muscle is caused by trigger points. According to Travell and Simons, authors of a book on myofascial syndrome, trigger points in the trapezius muscle are much more common than in other muscles [J. Travell and D. Simons, Myofascial Pain and Dysfunction. Volume I. P. 353].

But the cause of trapezius muscle pain does not always lie only in the physical plane. This muscle, like no other, is influenced by emotional factors. However, we will talk about the psychosomatics of the trapezius muscle and myofascial syndrome a little lower, in the “Symptoms...” section, and now - anatomy.