SYNDROMIC MANIFESTATIONS OF FIBROCORTICAL DEFECT IN AN ADOLESCENT – A CLINICAL CASE

Abstract

Fibrous cortical defect (FCD) occurs in children and adolescents and is most often diagnosed at the age of 1–15 years. Small FCDs usually have a latent course and do not manifest themselves in any way. Large FCDs that exceed half the bone diameter pose a threat of pathological fracture at the site of the fibrous focus, accompanied by pain, muscle atrophy, and lameness. In case of a bone fracture at the site of FCD, the clinic does not cause any difficulties: pain at the level of the fracture, change of the limb axis (in case of fragments mixing), and limb support is not possible due to pain. In this case, an X-ray examination clearly shows a fracture and, occasionally, a bone defect, namely a fibrous cortical defect. Almost all FCDs are located in the metaphysis of long bones. The most commonly affected are the distal and proximal metaphyses of the femur and tibia, respectively. The cause of FCD is not fully known, and it remains a great mystery why the islands of embryonic connective tissue in the long bones are not replaced by mature bone tissue immediately after birth, but are stretched in time until the child's growth is complete. The imbalance of connective tissue morphogenesis in FKD can be accompanied by various phenotypic manifestations, which should be kept in mind during a comprehensive examination of such children.The aim of the study is to familiarise practitioners with the multifaceted clinical manifestations of cortical fibrous defect of the femur in order to timely diagnose and adequately treat the main and concomitant pathology that was inherent in our clinical case.Materials and methods. A clinical examination of the child was carried out, which included an assessment of the general condition, orthopaedic pathology, as well as a physical examination to identify concomitant pathologies. Anamnesis was collected by interviewing parents and analysing medical records. X-ray examination was performed using standard equipment, magnetic resonance imaging – on a Philips Ingenia 1.5 Tesla device with expert-type gradients using a standard combination of pulse sequences, without and with intravenous contrast enhancement (7.0 ml gadovist). Ultrasound of internal organs is standard equipment. Complete blood count, biochemical blood count, coagulogram – standard methods. Nechyporenko and Zemnytsky test.Contrast cystography of the bladder. An enzyme-linked immunosorbent assay was performed to detect IgG, IgM to EBV capsular antigen, as well as a polymerase chain reaction method to detect EBV DNA in plasma and saliva.Results. The child was examined for right-sided Osgood-Schlatter disease. A fibrous cortical defect of the distal femoral metaphysis was incidentally diagnosed on an MRI radiograph of the right knee joint. A thorough clinical and laboratory examination revealed a number of concomitant syndromic pathologies: atypical (allergic) dermatitis, recurrent Epstein-Barr sporadic viral infection, shingles, neurogenic bladder dysfunction, frequent nosebleeds, and bilateral flat feet. The last year has been dominated by orthopaedic pathology – Osgood-Schlatter disease, fibrous cortical defect of the distal femoral metaphysis, bilateral flat feet.Conclusions. Local disorders of osteogenesis in the embryonic period, manifested by untimely replacement of mesenchymal tissue with bone tissue in the form of islands of fibrous cortical defect, were delayed at the age of 14 and were accompanied by disorders of tibial apophysis formation and a number of concomitant diseases – atypical (allergic) dermatitis, recurrent Epstein- Barr sporadic infection, shingles, neurogenic bladder dysfunction, frequent nosebleeds, bilateral flat feet. The presence of a fibrous cortical defect significantly reduces the child's quality of life due to the prohibition of all physiotherapy procedures necessary for the full treatment of Osgood-Schlatter disease and restriction of motor activity.