Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment.

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.

Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome.

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.

Intraneural Ganglia of the Common Peroneal Nerve in Children: Case Report and Review of the Literature.

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.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

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.

Hip ultrasound.

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.

Development and preliminary validation of a paediatric-targeted MRI scoring system for the assessment of disease activity and damage in juvenile idiopathic arthritis.

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.

Dextrocardia in patients with Poland syndrome: phenotypic characterization provides insight into the pathogenesis.

OBJECTIVE: Poland syndrome is a rare congenital anomaly characterized by complete or partial agenesis of the pectoralis major muscle variably associated with other thoracic malformations, upper limb malformations, or both. More than 20 patients with dextrocardia and left-sided Poland syndrome have been previously described. The association between these 2 rare anomalies suggests a causal relationship, but the etiopathogenetic mechanism has not been clarified yet. We studied the clinical correlation between these 2 anomalies, and we tried to elucidate whether dextrocardia or Poland syndrome comes first. METHODS: This is a multicentric multidisciplinary study conducted over the last 5 years. We identified 122 patients with Poland syndrome, and we investigated heart position through different imaging techniques. Logistic regression statistical analyses were carried out. RESULTS: We observed dextrocardia in 14 (11.5%) patients, which was never associated with situs inversus. All of them presented with left-sided Poland syndrome and partial agenesis of 2 or more ribs. Conversely, all patients with Poland syndrome with partial agenesis of 2 or more ribs presented with dextrocardia, whereas dextrocardia was never associated with partial agenesis of a single rib. Three patients with dextrocardia presented with simple congenital heart defects. CONCLUSIONS: These findings suggest that mechanical factors during embryonic life could explain the strong association between left-sided Poland syndrome and dextrocardia. According to this hypothesis, partial agenesis of 2 or more ribs is needed to displace the heart toward the right side. The peculiar features of dextrocardia when associated with Poland syndrome (neither associated with situs inversus nor complex intracardiac anomalies) support our hypothesis.

Development and initial validation of a radiographic scoring system for the hip in juvenile idiopathic arthritis.

OBJECTIVE: To develop and validate a radiographic scoring system for the assessment of radiographic damage in the hip joint in patients with juvenile idiopathic arthritis (JIA). METHODS: The Childhood Arthritis Radiographic Score of the Hip (CARSH) assesses and scores these radiographic abnormalities: joint space narrowing (JSN), erosion, growth abnormalities, subchondral cysts, malalignment, sclerosis of the acetabulum, and avascular necrosis of the femoral head. Score validation was accomplished by evaluating reliability and correlational, construct, and predictive validity in 148 JIA patients with hip disease who had a total of 381 hip radiographs available for study. RESULTS: JSN was the most frequently observed radiographic abnormality, followed by erosion and sclerosis of the acetabulum. The least common abnormalities were avascular necrosis, growth abnormalities, and malalignment. Interobserver and intraobserver reliability on baseline and longitudinal score values and on score changes was good, with intraclass correlation coefficients ranging from 0.76 to 0.98. Early score changes, but not absolute baseline score values, were moderately correlated (r(s) > 0.4) with clinical indicators of disease damage at last followup observation, thereby demonstrating that the CARSH has good construct and predictive validity. The amount of structural damage in the hip radiograph at last followup observation was predicted better by baseline to 1-year score change (r(s) = 0.66; p < 0.0001) than by absolute baseline score values (r(s) = 0.40; p = 0.002). CONCLUSION: Our results show that the CARSH is reliable and valid for the assessment of radiographic hip damage and its progression in patients with JIA.

Ultrasound of tendons and nerves.

Tendons and nerves represent probably one of the best application of musculoskeletal US due to the high lesion detection rate and accuracy of US combined with its low cost, wide availability, and ease of use. The refinement of high-frequency broadband linear-array transducers, and sensitive color and power Doppler technology, have improved the ability of US to detect fine textural abnormalities of these structures as well as to identify a variety of pathological conditions. Characteristic echotextural patterns, closely resembling the histological ones, are typically depicted in these structures using high US frequencies. In tendon imaging, US can assess dislocations, degenerative changes and tendon tears, including intrasubstance tears, longitudinal splits, partial and complete rupture, inflammatory conditions and tendon tumors, as well as postoperative findings. In nerve imaging, US can support clinical and electrophysiological testing for detection of compressing lesions caused by nerve entrapment in a variety of osteofibrous tunnels of the limbs and extremities. Congenital anomalies, nerve tears, and neurogenic tumors can also be diagnosed. Overall, US is an effective technique for imaging tendons and nerves. In most cases, a focused US examination can be performed more rapidly and efficiently than MR imaging.