FEATURES OF CLINICAL SYMPTOMS OF SPRENGEL'S DISEASE

Abstract

Sprengel's disease is a rare congenital disorder with no known cause. The amount of information about this disease is limited. It is characterised by an atypical location of the underdeveloped scapula on the neck, restriction of its mobility and arm, muscle atrophy, which is sometimes combined with other developmental defects: scoliosis, bone fusion of the cervical vertebrae, and shortening of the upper limb. As a rule, the disease is unilateral – 80%. The prognosis for life is favourable, functional – not favourable. Aim. To study the peculiarities of clinical manifestations of Sprengel's disease and to draw the attention of practitioners to the main concomitant changes that occur most often in order to diagnose and treat them in a timely manner. Materials and methods. A boy D. aged 17 years, who was undergoing inpatient treatment was examined. A comprehensive examination was conducted: X-ray radiography (standard equipment); computerised planography; abdominal ultrasound (standard equipment). Inpatient and outpatient records were studied. The data obtained were compared with the results of research conducted by scientists over the past ten years. Results. A thorough examination revealed a rare congenital pathology – right-sided Sprengel's disease. The high position of the right shoulder blade was the cause of difficult childbirth and simulated congenital muscular torticollis, for which he was unsuccessfully treated for a long time. The left-sided, adolescent, upper-thoracic scoliosis of the second degree contributed to the lowering of the right scapula, resulting in a ‘pseudocorrection’ of the high scapular position. An additional lung lobe of the unpaired vein (v. azygos), a double right kidney, atopic dermatitis, congenital malformation of the right foot with its shortening, and bilateral flat feet were detected: I stage – on the right; II stage – on the left. Conclusions. Sprengel's disease is a rare disease combined with multiple malformations of the development, lungs, kidneys, feet, scoliosis, hip dysplasia, and haemorrhoids. In our case, the multiple malformations were right-sided. Recurrent bronchitis, conjunctivitis, tonsil hyperplasia, dermatitis are manifestations of a whole group of atopic diseases. Multiple developmental defects in the boy, mother, and older brother indicate a family nature of the disease with various phenotypic manifestations. Prospects for further research. The limited number of clinical observations of this disease requires further in-depth study of this interesting disease for the purpose of early diagnosis, treatment and prevention of possible complications in the process of child growth.