Although easily performed and with optimal clinical results, scrotal ultrasound examinations are not free from technical difficulties. Some artifacts are relatively frequent, their creation mechanisms are well known and are easily recognized; others are uncommon, produce images which can be difficult to recognize, and need modifications of scan planes and examination techniques to be properly understood. The aim of this paper is to describe some rare artifacts and pitfalls in scrotal ultrasound, trying to explain their genesis and how to avoid them. We describe four different artifacts (flow signals not related to blood flow, refraction phenomena causing appearance of testicular pseudo-masses, pseudo-thickening of the tunica vaginalis, testicular anomalous echogenicity from thickening of the scrotal wall) that can cause diagnostic difficulties during scrotal examinations.

Background: Poland syndrome (PS) is a rare congenital syndrome characterized by unilateral pectoralis major muscle defect. In 2016, we proposed the thorax, breast, and nipple-areola complex (TBN) classification and a subsequent treatment algorithm, which included conservative and surgical procedures. Our aim is to report the results we obtained treating all thoracic anomalies according to the proposed algorithm in a cohort of adolescents affected by PS. Methods: Between January 2016 and June 2023, 52 patients with PS were treated using the TBN classification in our institute. Each patient was evaluated by a multidisciplinary team composed of pediatric and plastic surgeons and treated according to the algorithm. Surgical procedures included were minimally invasive pectus excavatum repair, open sternochondroplasty, patch, metal plate, 3-dimensional chest wall prosthesis, fat grafting, tissue expanders, and breast and pectoral implants. Conservative treatments included vacuum bell and corset. Results: Half of the patients had no thoracic skeletal defect (T1), but all had soft-tissues defects. Nineteen patients required thoracoplasty, all of whom experienced T downstaging after treatment, and 90% were postoperatively reclassified as T1. Conservative treatment for T correction was proposed in 8 patients; 83% underwent fat grafting, and 88% had a breast/pectoral prosthesis implanted. There were no major complications registered. The mean follow-up was 5.9 years. Conclusions: The proposed algorithm can be considered a useful tool for standardized surgical decision-making in PS. Fat grafting can play a major role in a pediatric setting. A multidisciplinary and minimally invasive approach, whenever possible, should be prioritized in patients younger than 18 years.

Background Temporomandibular joint (TMJ) involvement is frequent in patients with Juvenile Idiopathic Arthritis (JIA) and may cause severe craniofacial growth disturbances. Contrast-enhanced MRI is considered the best available tool for TMJ assessment[1]. Objectives To investigate the agreement between MRI and physical examination in the detection of TMJ involvement; to describe the evolution of TMJ activity and osteochondral damage by means of MRI during disease course; to evaluate the relationship between socio-demographic, clinical variables and radiologic outcomes in terms of resolution of inflammation and structural damage progression. Methods 121 JIA patients with TMJ involvement who underwent at least 2 MRI examinations in our Centre between 2012 and 2022 were included in this retrospective study. TMJ inflammation and damage were evaluated according to the MRI scoring system proposed by the OMERACT (Outcome Measures in Rheumatology and Clinical Trials)[2]. The agreement between physical examination and MRI was analysed by means of Cohen’s kappa coefficient. The relationship between socio-demographic and clinical variables and radiologic outcomes was estimated by bivariate analyses. Comparison between survival curves for damage progression was done by the Log-Rank test. Results 339 TMJ MRIs obtained from 121 JIA patients were reviewed. First MRI was performed at a median time of 0.6 years (0.2-1.5) after TMJ symptoms onset. Baseline MRI showed active synovitis in 85 out of 121 patients (70.2%) and condylar damage in 112 (92.6%) patients. A poor agreement was found between physical examination and MRI (right TMJ Cohen’s kappa = 0.15; left TMJ Cohen’s kappa = 0.26). MRI showed active TMJ synovitis in 63% of the exams performed in patients who were in clinical remission according to Wallace criteria. During follow-up, synovitis improved in 56.2% of patients and structural damage progression was observed in 21.0% of patients. Younger age (< 9.4 years) at onset of TMJ involvement was associated with the resolution of the inflammatory process (p=0.023) and with a lower rate of structural damage progression (p=0.027). Significant association was observed between persistence of TMJ synovial inflammation and damage progression (p=0.0013). Higher baseline MRI synovitis (p=0.018) and bone erosion scores (p<0.0001) were associated with the development of a severe osteochondral damage at last follow-up MRI. Conclusion Our study confirms that TMJ involvement is clinically silent in most of JIA patients and supports the role of MRI in the diagnosis and monitoring of TMJ arthritis. Active TMJ synovitis was found in a substantial proportion of patients in clinical remission with relevant implications for the therapeutic strategy. Old age at TMJ onset, a high degree of synovial inflammation and its persistence over time were negative prognostic factors for the development of severe TMJ damage. References [1]Arabshahi B, Cron RQ. Temporomandibular joint arthritis in juvenile idiopathic arthritis: the forgotten joint. Curr Opin Rheumatol. 2006 Sep;18(5):490–5; [2]Tolend MA, Twilt M, Cron RQ, Tzaribachev N, Guleria S, von Kalle T, et al. Toward Establishing a Standardized Magnetic Resonance Imaging Scoring System for Temporomandibular Joints in Juvenile Idiopathic Arthritis. Arthritis Care Res (Hoboken). 2018 May;70(5):758–67. Acknowledgements: NIL. Disclosure of Interests None declared.

AbstractBackgroundPoland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.Main bodyThe aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.ConclusionBeing Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts.

Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed.

Background: Poland syndrome is a congenital deformity characterized by unilateral anomalies of pectoralis muscles, breast, nipple, axillary fold, subcutaneous tissue, ribs, and upper limb. The thoracic anomaly, which is the pathognomonic malformation of Poland syndrome, presents a wide phenotype variability and has been classified by different authors. However, these classifications do not include all the possible phenotypes of Poland syndrome. The aim of this study is to propose a simple classification of the whole spectrum of thoracic anomalies and a treatment algorithm that could have a practical value for determining the surgical approach. Methods: Since 2008, 100 patients have been evaluated by the same plastic surgical team at San Martino Hospital-IST and Istituto Gaslini of Genoa, Italy, using the thorax, breast, nipple-areola complex (TBN) classification. Thoracic anomalies were classified as follows: thorax (T), from T1 (muscle defect only) to T4 (complex deformity with rib and sternal involvement); breast (B), in B1 (hypoplasia) or B2 (amastia); and nipple-areola complex (N), from N1 (dislocation <2 cm) to N3 (athelia). Results: The most frequent thoracic anomalies were T1 (47 percent) and N2 (74 percent), whereas in female patients, B1 was more frequent than B2. The surgical approach to breast and pectoral reconstruction was based not only on the patient’s age and sex, but also on the type of anomaly according to the TBN classification. In particular, a two-step approach with tissue expanders was required in N2 and N3 cases, whereas in N1 patients a single step was sufficient. Conclusion: The TBN classification can be a useful tool for surgical decision-making according to each specific thoracic anomaly. CLINICAL QUESTION/LEVEL OF EVIDENCE: Diagnostic, IV.

OBJECTIVES:Intraneural ganglia are nonneoplastic cystic formations contained within the epineurium of peripheral nerves. The common peroneal nerve at the fibular neck is the most frequently affected site. Intraneural ganglia are not a frequent occurrence in the adult patients and are even rarer in children, with only 10 pediatric cases reported in the English language literature. We report on a new pediatric case of intraneural ganglion of common peroneal nerve and present a review of the English language literature on this topic in children.METHODS:A 10-year-old girl was admitted to our institution because of pain referred to posterior and anterior aspects of the right leg and right foot drop. The radiologic investigations showed a wide (20 cm long) intraneural ganglion cyst of the right common peroneal nerve. The patient underwent surgical treatment according to the Spinner technique.RESULTS:Postoperative course was uneventful. A gradual improvement of motor and sensory functions was observed, starting from the third postoperative day, with a complete motor function restoration registered 26 months after surgery.CONCLUSIONS:Intraneural ganglia of the common peroneal nerve should always be considered in the differential diagnosis of foot drop in pediatric age since because early diagnosis and adequate surgical treatment play a crucial role in the patient's motor and sensory outcomes.

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown.

ObjectiveTo evaluate agreement among musculoskeletal pediatric specialists in assessing radiographic joint damage in juvenile idiopathic arthritis (JIA).MethodsTwo pediatric rheumatologists, 2 pediatric radiologists, and 2 pediatric orthopedic surgeons evaluated independently 60 radiographs of both wrists and hands of children with polyarticular-course JIA. Films were scored using an adapted and simplified version of the Larsen score, ranging from 0-5. Study radiographs were selected from 568 films used in a previous study aimed to validate an adapted pediatric version of the Sharp/van der Heijde (SHS) score. To enable comparison of specialists' scores with the adapted SHS score, the 60 radiographs were divided into 6 classes of severity of damage based on quintiles of the adapted SHS score. Agreement was evaluated in terms of absolute agreement and through weighted kappa statistics.ResultsThe pediatric radiologists tended to assign lower scores and to provide more frequently scores of 0 than did the other specialists. Weighted kappa for the 3 pairs of specialists ranged from 0.67-0.69, indicating substantial agreement. Absolute agreement ranged from 51.3-55.7%, depending on the pair of specialists examined. Both absolute and weighted kappa concordance between specialists' scores and the adapted SHS score were poorer for the pediatric radiologist than for the other specialists.ConclusionWe observed fair agreement in the assessment of radiographic damage among pediatric specialists involved in the care of children with JIA. The radiologists tended to be more reserved than the rheumatologists and orthopedic surgeons in labeling radiographs as damaged or in considering changes as important.

We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene. Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia.

The management of children juvenile idiopathic arthritis (JIA) is ideally conducted through the establishment of a multidisciplinary team of musculoskeletal pediatric specialists. Some therapeutic decisions, either medical or surgical, are made through discussion and consensus between specialists by viewing patient radiographs. However, it is unknown whether and to what extent different specialists agree in the assessment of the amount of radiographic joint damage.

US is a technique particularly suited to the investigation of musculoskeletal disorders in children and adolescents. This review paper describes a range of clinical settings beyond the hip joint where US has a significant role to play, including sports injuries, infectious diseases, inflammatory and degenerative conditions, congenital and developmental disorders, acute trauma of bone and joints, and peripheral nerve injuries. In some circumstances, US can be regarded as the most effective means of diagnostic imaging, whereas in other instances, it is an alternative or supplement to other more comprehensive imaging modalities, like MRI and CT. Although MRI offers superior soft-tissue contrast resolution, US is low-cost, non-invasive and has higher spatial resolution and real-time capability for the assessment of musculoskeletal structures during joint movement and stress manoeuvres.

In newborns, US has an established role in the detection and management of developmental dysplasia of the hip. Later in childhood, when the limping child is a major diagnostic dilemma, US is extremely helpful in the identification of the varied disease processes underlying this condition, as transient synovitis, septic arthritis, Perthes disease and slipped femoral capital epiphysis. In adolescent practicing sporting activities, US is an excellent means to identify apophyseal injures about the pelvic ring, especially when avulsions are undisplaced and difficult-to-see radiographically. Later on, in the adulthood, US is an effective modality to diagnose tendon and muscle injuries about the hip and pelvis, identify effusion or synovitis within the hip joint or its adjacent bursae and guide the treatment of these findings. The aim of this article is to provide a comprehensive review of the most common pathologic conditions about the hip, in which the contribution of US is relevant for the diagnostic work-up.

From the anatomical point of view, apophyses are protuberances on bone (from Greek αποφισις, composed of apo “to bring forth” and physis “to grow”) that make up specialized structures for the attachment of tendons and ligaments. Among children and adolescents, lesions on the apophysis are a common clinical problem related to sporting and recreational activities. This is due to the fact that, between the age of 12 and 16 years, the structure of apophyses makes them vulnerable: the development of their ossification center is not yet complete, and the cartilage, under hormonal influence, loses elasticity and is unable to give firm stability to the osteotendinous junction. Hence, rough application of shear or torsion forces, exercised upon the apophyses by tendons and ligaments, can overcome the threshold of cartilage and bone resistance. This may result in fragmentation or detachment, which consequently impairs function to an extent that can be more or less disabling for the patient. The range of apophyseal injuries is extremely broad and is influenced by the following factors: degree of bone and cartilage maturation (and, therefore, age of the child or adolescent at the time of trauma); anatomical location of the apophysis; and the geometry and degree of the forces applied to the myotendinous system. This pathophysiologic complexity may explain the large number of terms used to define this type of injury, often generating confusion in descriptions of the process itself. Terms range from “apophyseal irritation”, to “traction apophysitis”, “osteochondrosis”, “chronic apophysitis”, “osteochondritis”, and “apophyseal separation”.

Traumatic peripheral nerve lesions are relatively rare in the pediatric age group and are generally distinguished by a more rapid healing process and an improved prognosis compared to lesions observed in adults. The type of nerve injury varies according to age. Nerve lesions from sprains and accidental insult during treatment of peripheral nerves, as happens in particular with the sciatic nerve, generally occur during the neonatal period; lacerations from cuts or compression of a nerve can occur in children over 3 years of age. In pre-adolescence, the most frequent causes of nerve lesion are intra-articular dislocation, and fractures of the elbow (especially supracondylar fractures) and knee, which are sometimes a secondary consequence of sports injuries. Supracondylar fractures of the elbow with severe dislocation of the bone fragments can lead to a nerve lesion of the median nerve and the ulna, while the common lesion of the peroneal nerve is most frequently caused by spraining the knee during sports such as football and skiing. Nerve deficits resulting from elbow fractures generally have a positive evolution with a relatively rapid spontaneous recovery. In adolescents, peripheral nerve lesions are similar to those encountered in adults and are mainly caused by road accidents or by wounds from firearms or knives.

Objectives To develop and validate a paediatric-targeted MRI scoring system for the assessment of disease activity and damage in juvenile idiopathic arthritis (JIA). To compare the paediatric MRI score with the adult-designed. Outcome Measures in Rheumatology Clinical Trials—Rheumatoid Arthritis MRI Score (RAMRIS), whose suitability for assessing growing joints was tested. Methods In 66 patients with JIA the clinically more affected wrist was studied. Thirty-nine patients had a 1-year MRI follow-up. Two readers independently assigned the paediatric score and the RAMRIS to all studies. Validation procedures included analysis of reliability, construct validity and responsiveness to change. A reduced version of the bone erosion score was also developed and tested. Results The paediatric score showed an excellent reproducibility (interclass correlation coefficient >0.9). The interobserver agreement of RAMRIS was moderate for bone erosions and excellent for bone marrow oedema (BMO). The paediatric score and RAMRIS provided similar results for construct validity. The responsiveness to change of the paediatric score was moderate for synovitis and bone erosion, and poor for BMO and did not improve when RAMRIS was applied. The reduced version of the bone erosion was valuable for the assessment of joint damage, and provided time-saving advantages. Conclusion The results demonstrate that the paediatric MRI score is a reliable and valid method for assessing disease activity and damage in JIA. Unexpectedly, the RAMRIS provides acceptable suitability for use in the paediatric age group. Further work, especially in a longitudinal setting, is required before defining the most suitable MRI scale for assessing growing joints.