Chronic Recurrent Multifocal Osteomyelitis (CRMO) and Synovitis Acne Pustulosis Hyperostosis Osteitis (SAPHO) Syndrome - Two Presentations of the Same Disease?

The two most common entities among generally rare but under-diagnosed autoinflammatory bone disorders are chronic recurrent multifocal osteomyelitis (CRMO) and synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Due to their similarities, many authors consider CRMO to be a subtype of SAPHO syndrome. The aim of this study was to compare clinical, laboratory, and imaging features and outcomes of patients with CRMO and SAPHO. The analysis of the data from 6 children with CRMO (four girls and two boys, age 3.5-14 years) and of 6 children (6 boys, age 13.5-17.5 years) with SAPHO syndrome was performed. The initiating symptoms in all patients with CRMO were bone pain with multifocal bone lesions. There were no skin manifestations. Five out of six patients achieved control with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids, while one patient required disease-modifying antirheumatic drugs (DMARDs). The initiating symptom in five patients with SAPHO syndrome were severe acne, while in one patient acne occurred two years after the disease onset. Two patients typically developed inflamed sternoclavicular joints and sternum, while the others showed changes affecting other skeletal regions. Three patients achieved control with NSAIDs and corticosteroids, the others required DMARDs and TNFα inhibitors. In comparison with patients with CRMO, patients with SAPHO suffered more frequent and longer lasting exacerbations. In conclusion, CRMO and SAPHO syndrome have an array of common characteristics, but also a number of differences. Nevertheless, further investigation into the etiopathogenesis is required to establish a definite relationship between CRMO and SAPHO.

Management of a Complex Lower Limb Open Fracture in a Teenage Patient: A Case Report.

The challenges of managing Gustilo IIIB tibial fractures (ie, high energy trauma with a contaminated wound >10 cm in length, severe comminution ["crumbling"] or segmental fractures, and periosteal stripping) in children are unique in part because no clear guidelines exist and the injuries may cause short-term and long-term complications. Repeated wound debridement and secondary reconstruction are required in approximately 20% of these cases in both adults and children. A 13-year-old girl presented with severe polytrauma including an open Gustilo type IIIB fracture of the left lower leg. The patient declined limb amputation; a multidisciplinary team (plastic, pediatric, orthopedic-trauma surgeons, pediatrician, psychiatrist, clinical pharmacologist, anesthesiologist, physiotherapist, nurses) was assembled in order to give the patient the best chance of a successful outcome. Multiple limb salvage and reconstructive procedures including wound debridements, necrectomies, long-term negative pressure wound therapy, soft tissue reconstructions, external bone fixation, bone osteosynthesis, multiple skin grafts, and free-flap reconstruction were provided over a period of 6 months with great success. The patient is doing well 3 years after initial injury and is walking without complications. A multidisciplinary approach and structured treatment plan are important to minimize complications, avoid unnecessary delays in treatment, decrease morbidity, and provide the patient with the best result possible. Studies examining optimal treatment strategies for children and adolescents with these complicated fractures are needed.

Immunohistochemical characterization of early and advanced knee osteoarthritis by NF-κB and iNOS expression.

This study was performed to determine the differences in grade of synovitis and expression of NF-κB and iNOS in knee synovial membrane between early and advanced stage of osteoarthritis (OA). Thirty synovial membrane intra-operative biopsies of patients (ten controls, ten with early and ten with advanced OA according to Kellgren-Lawrence radiological score) were immunohistochemically (NF-κB and iNOS) and hystologically (Krenn synovitis score) analyzed and correlated to WOMAC clinical score and pain duration. Krenn synovitis score of patients with radiologically early OA was significantly higher than in patients with advanced OA (p < 0.001). NF-κB expression in both synovial intima (p < 0.001) and subintima (p < 0.001) was also higher in early OA. iNOS expression in subintima was significantly higher in early than in advanced OA (p < 0.001), while in intima iNOS showed no statistical difference between groups (p = 0.07). The lymphocytic nodules, located in synovial subintima, were significantly higher in advanced OA when compared to early OA (p = 0.006) and the control group (p < 0.001). These results suggest that in early OA, there is a localized inflammation of the synovial membrane with high expression of NF-κB and iNOS. In advanced OA, number of expressed factors is reduced, with the exception of intima cells that highly express iNOS, reflecting the ongoing localized inflammatory process of lower degree. In advanced OA, the density of the resident cells is reduced and lymphocytic nodules appear, confirming the important role of adaptive immunity in later OA stage. Clinical significance of this study is better understanding possibilities of preventive measures for synovitis and OA advancement. © 2017 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:1990-1997, 2017.

Neurogenic muscle hypertrophy in a 12-year-old girl.

Muscular hypertrophy secondary to denervation is very rare, but well-documented phenomena in adults. This is the first report of a child with neurogenic unilateral hypertrophy due to S1 radiculopathy. A 12-year-old girl presented with left calf hypertrophy and negative history of low back pain or trauma. The serum creatinine kinase level and inflammatory markers were normal. Magnetic resonance imaging showed muscle hypertrophy of the left gastrocnemius and revealed a protruded lumbar disc at the L5-S1 level. The protruded disc abuts the S1 root on the left side. Electromyography showed mild left S1 radiculopathy. Passive stretching and work load might clarify the origin of neurogenic hypertrophy but there is still a need for further evidence. Clinical, laboratory, magnetic resonance imaging and electromyography findings showed that S1 radiculopathy could be a cause of unilateral calf swelling in youth even in the absence of a history of back or leg pain.

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.

Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.

[SUBUNGUAL EXOSTOSIS OF THE THUMB - CASE REPORT IN AN EIGHT YEAR OLD GIRL]. / SUBUNGVALNA EGZOSTOZA PALCA STOPALA - PRIKAZ OSMOGODISNJE DJEVOJCICE.

Subungual exostosis (SE) is a benign osteocartilaginous tumor of the distal phalanx of the finger, particularly of the toes. It affects both sexes, the most frequently occurring in the second and third decades of life, and very rarely in children younger than eight years. We present subungual exostosis (SE) in a eith year old female child affecting the terminal phalanx of the right thumb. She presented to us with gradually enlarging, painless, subungual hard nodule on the right thumb, spherical appearance size of 12 mm in diameter. Roentogram of the foot showed bony outgrowth arising from the terminal phalanx of right thumb. Lesion was excised with prior ablation of the nail, and sent for histopathological examination. Histology showed evidence of SE. No recurrence at postoperated site was seen till ten months of follow-up.

Ultrasound screening for decentered hips in children with severe cerebral palsy: a preliminary evaluation.

BACKGROUND: Ultrasound (US) is routinely used for hip screening in children with developmental hip disorders, whereas standard hip surveillance in children with cerebral palsy is based on repeated X-ray assessments. OBJECTIVE: To evaluate US as a diagnostic tool in screening for decentered hips in children with cerebral palsy. MATERIALS AND METHODS: We conducted a prospective, diagnostic single-center assessor-blind study that included consecutive children (age 2-8 years) with cerebral palsy and severe motor disability who underwent US and X-ray hip assessment. US lateral longitudinal scans were used to determine lateral head distance. X-ray assessment was used to determine migration percentage. Diagnostic properties of lateral head distance in detecting hips with a migration percentage ≥0.33 (which requires preventive treatment) were evaluated overall (n = 100) and for hips assessed at the age 24-60 months (n = 38) or >60 to ≤96 months (n = 62). Fifty hips underwent US assessment by two investigators to evaluate inter-rater reliability and agreement. RESULTS: Prevalence of migration percentage ≥0.33 was 22.0% overall and 26.2% and 19.4% in the younger and older age-based subsets, respectively. Lateral head distance well discriminated hips with a migration percentage ≥0.33 (areas under the receiver operating characteristics [ROC] curves 94%, 99% and 92%, respectively). At the optimum cut-off values of lateral head distance (5.0, 5.0 and 4.8 mm, respectively), sensitivity was 95.5%, 100% and 100% overall and in the two age-based subsets, respectively, whereas specificity was 85.9%, 96.4% and 72.0%, respectively. Consequently, positive predictive value was relatively low, but negative predictive value was 98.5% (95% CI 92.1-100) overall and 100% (97.5% one-sided CI 87.2-100) and 100% (97.5 one-sided CI 90.2-100) in the two age-based subsets, respectively. Inter-rater reliability was high (intraclass correlation coefficient = 0.98, 95% CI 0.97-0.99) and 95% limits of agreement were reasonably narrow (-1.203 mm to 0.995 mm). CONCLUSION: In children with cerebral palsy, US can be reliably used in screening for decentered hips and can greatly reduce the need for repeated radiographic assessments, thus reducing radiation burden in these children.

Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement.

OBJECTIVE: To define the clinical, radiologic and molecular characteristics of a patient with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia. METHODS: We describe an 18-year-old girl with early progressive osteoarthritis and mild spondyloepiphyseal dysplasia. The index case underwent a physical examination, anthropometric measurements and radiologic and laboratory studies. DNA of the patient and her only living parent (mother) was sequenced for the type II collagen gene (COL2A1). RESULTS: Mild scoliosis was noticed in the proband at the age of 13 years. At the same age, she began to have arthralgia in almost all the joints and osteoarthritis progressed fast, necessitating a hip, knee and ankle prosthesis at the age of 18 years. She was eumorphic with no ocular or hearing abnormalities. Molecular testing of the COL2A1 gene revealed a p.Gly204Val mutation. The mutation was absent in the healthy mother. CONCLUSION: This patient provides further proof that an early osteoarthritic phenotype can be caused by a mutation in the COL2A1 gene.

Long-term follow-up of congenital distal tibiofibular diastasis: a report of two female patients.

Congenital diastasis of the inferior tibiofibular joint is an extremely rare variant of dysplastic tibial anomaly, which is usually associated with significant shortening of the lower leg and ipsilateral foot deformity due to talus incarceration in the distal tibiofibular mortise. The purpose of this study was to present the long-term results of reconstructive treatment and the functional outcome after a follow-up of 11-16 years. The principles of extremity preservation and reconstruction with the Ilizarov frame have shown a stable ankle joint, a plantigrade foot, and fully independent outdoor ambulation in both patients at the final follow-up. We concluded that amputation should not be performed under this condition.

[Treatment of langerhans cell histiocytosis in children]. / Lijecenje histiocitoze langerhansovih stanica u djece.

Langerhans' cell histiocytosis (LCH) is a disease characterised by pathologic accumulation and proliferation of histiocytes, cells from the monocyte-macrophage system, in various tissues and organs. In this retrospective study we analyzed patients charts treated in the Department of pediatric hematology and oncology at the University Hospital Zagreb with the diagnosis of LCH. Twenty-two children were diagnosed between January 1st 1996 and December 31st 2010, and all were treated with chemotherapy. 19 patients survived (86%) and the remaining 3 (14%), all under the age of 2 with multisystem disease, died. At the time of diagnosis 12 children (55%) presented with single-system disease, the most common were bone lesions in 8 children (36%). All children were treated according to protocols LCH-I and LCH -III. Eight children had mild complications of treatment and the disease itself. Diabetes insipidus remains in 4 children.

[ISKRA guidelines for antimicrobial prophylaxis in surgery--Croatian National Guidelines]. / Smjernice ISKRA za antimikrobnu profilaksu u kirurgiji--Hrvatske Nacionalne Smjernice.

Summary. The development of the Guidelines for perioperative prophylactic use of antimicrobial agents (further on Guidelines) was initiated by the Interdisciplinary Section for Antibiotic Resistance Control (ISKRA) of the Croatian Ministry of Health and Social Welfare in accordance with the principles of AGREE (Appraisal of Guidelines for Research and Evaluation) methodology which means that the guidelines are the result of a consensus between all involved professional societies. Guidelines were composed in order to improve antibiotic use in surgical professions. Data obtained from observational studies have shown that the use of antimicrobials in surgical professions is unsatisfactory, and since around 50% of all prescribed drugs in surgical professions refer to perioperative prophylaxis, such guidelines could significantly improve current negative trend and reduce the occurrence of infections in surgical patients as well as slow down the selection of resistant bacteria. In the introductory part of the guidelines, principles of perioperative prophylaxis are presented. The advantages and risks of prophylaxis are listed as well as factors that determine prophylaxis effectiveness. For easier orientation, surgical professions have been divided into basic surgical fields. In each field, the specificity of the field has been described followed by uniform structured tables and with every listed surgical procedure there is the most probable cause of infection, the drug of choice for prophylaxis, alternative drug, remark for particular surgical procedure and finally the grade of recommendation. The Guidelines do not cover perioperative prophylaxis in immunocompromised patients nor perioperative prophylaxis in children. The Guidelines do not cover all possible surgical interventions, but can be used as a basis for most surgical procedures performed in our hospitals. At the very end of these Guidelines, a comprehensive list of references enables all those interested to find further information and details about this topic. The revision of the Guidelines is planned in three years' time.

Bilateral fibular stress fracture in young female basketball player.

This report is a unique case of three stress fractures in a 14-year-old active female basketball player and we emphasize the importance of triple-phase bone scanning in differential diagnosis of the stress fracture. According to radiographic examination and laboratory tests, which were normal, the stress fracture of the right fibula was strongly suspected while making the diagnosis. Despite the treatment applied, recurrence, and deterioration of the symptoms were presented. Repeated laboratory test results were again normal, but the presence of an abundant periosteal reaction on the plain radiographs was confusing, so osteomyelitis or Ewing sarcoma of the fibula was suspected. We decided to perform a three-phase bone scanning; its findings were critical for the judgment and we diagnosed three stress fractures involving both fibulae. Final confirmation of the diagnosis of the bilateral fibular stress fractures in our case, however, was done by computed tomography examination.

The rational strategies for detecting developmental dysplasia of the hip at the age of 4-6 months old infants: a prospective study.

Using ultrasound in evaluation of infant's hip development can reduce surgical procedures, hospitalization and late presentation of developmental dysplasia of the hip (DDH). The increasing incidence of DDH after ultrasound examination is observed and published by many authors. In a prospective study, radiograph of every single ultrasonographic positive hip in infants older than three months, was taken and analyzed in order to see whether it affects infants splintage rate in treating DDH. In a period of 30 months, clinical and simple static ultrasonographic examinations according to Graf were performed on 1430 consecutive infant hips in patients aged between 4 and 6 months. Sonographic positive hips were radiographed and acetabular index (AI) values on simple AP radiographs were analyzed. The sonographic DDH incidence was 51.75 per 1000 hips (51.75 per thousand). After X-ray examination of all 74 ultrasonographic positive hips, only 44 remained abnormal and required treatment indicating a true DDH incidence of 30.77 per 1000 hips (30.77 per thousand). The difference in incidence per ultrasonographic and X-ray positive hips is statistically significant p < 0.01 (t = 5,536). The rational approach in detection of DDH in a child more than 3 months old is to do radiographic assessment of every sonographic positive hip.

[Emergencies in paediatric orthopaedics]. / Hitna stanja u djecjoj ortopediji.

Emergencies in pediatric orthopaedics surgery comprise a wide spectrum of diseases and injuries which demand fast diagnosis and appropriate treatement. If certain diagnostic and therapeutic measures are not undertaken punctual, in diseases like septic arthritis of the hip, acute haematogenous osteomyelitis, acute slipped capital femoral epiphysis, changes that can give arise to permanent consequences and disabilities will be developed. Well knowing of clinical features, using of ultrasound, diagnostic punctures and if necesarry using other investigations are essential for the fast diagnosis of acute infections of the locomotor system, and along with antibiotics, methodes of decompression are basics of the treatment.