Spontaneous pneumomediastinum, a rare manifestation of clinically amyopathic dermatomyositis.

Clinically amyopathic dermatomyositis (CADM) is a rare condition characterized by dermatomyositis skin lesions without clinically apparent muscle involvement. Respiratory involvement is common, occurring in about half of the cases. Spontaneous pneumomediastinum (PnM) is a rare, and often fatal, complication of CADM. We report a case of a 61-year-old female patient who was diagnosed with anti-melanoma differentiation- associated gene 5 antibody-associated CADM and interstitial lung disease. She developed an extensive spontaneous PnM with subcutaneous emphysema. The patient was treated with a conservative approach which was, initially, successful in reducing the size of the PnM. However, the patient died from an eventual nosocomial pneumonia requiring mechanical ventilation. This case illustrates that improving the management of CADM associated PnM, remains a major unmet need.

Ultrasonographic Assessment of Deltoid Ligament Integrity in Ankle Fractures.

BACKGROUND: Regardless of fibular status, the presence of a superficial deltoid ligament disruption or a combination of deep and superficial deltoid ligament disruption is central to the decision-making process in treating ankle fractures. The aims of the present study were to test whether ultrasonography can assess deltoid ligament integrity and to determine its validity and reliability by comparing it with gravity stress radiography. METHODS: A consecutive series of 81 eligible patients with a nondisplaced or minimally displaced fibula fracture identified on a standard radiograph were prospectively enrolled. All patients underwent gravity stress radiography and ultrasonography. Image analysis included the layer type, integrity, and tear site of the deltoid ligament. Ultrasound validity and intra- and interobserver reliability were assessed by the interpretations of the first author and an independent observer who were blinded to the results. RESULTS: Of all patients, 64 (79.0%) had a deltoid ligament disruption; most of the tears were of both the superficial and deep layers, partial and proximal attachment tears, and only 8 (12.5%) were complete tears. Patients with an intact deltoid ligament had a mean medial clear space (MCS) value of 2.7 ± 0.5 mm, and those with deltoid ligament tears had a mean MCS value of 5.9 ± 3.4 mm (P < .001). In a comparison between ultrasonography and gravity radiography, we found a sensitivity of 100% versus 97%, a specificity of 90% versus 100%, a positive predictive value of 97% versus 100%, and a negative predictive value of 100% versus 90%, respectively. The intra- and interobserver reliability was evaluated as almost perfect in all conditions. In a comparison between ultrasonography and gravity radiography, we found a sensitivity of 100% versus 97%, a specificity of 90% versus 100%, a positive predictive value of 97% versus 100%, and a negative predictive value of 100% versus 90%, respectively. CONCLUSION: Ultrasonography proved to be an accurate tool, allowing the identification of deltoid ligament disruption and the involved components in a more dynamic fashion. Its relative ease of use and lack of ionizing radiation make it a useful and confident technique that can be performed by an orthopedist. LEVEL OF EVIDENCE: Level II, prospective comparative study.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature.

Angiografia como método de diagnóstico da síndorme do desfiladeiro torácico neurovascular. A propósito de um caso / Angiography as a disngostic tool in the neurovascular outlet syndrome. A clinical case

O termo síndrome do desfiladeiro torácico (SDT) é usado para descrever o quadro clínico atribuível à compressão do plexo braquial, artéria e veia subclávicas na região desginada por desfiladeiro torácico. Até hoje, nenhum exame foi considerado gold standard para o diagnóstico. Os autores descrevem o caso de uma adolescente de 16 anos observada na consulta de Reumatologia por omalgia direita com 3 meses de evolução, acompanhada de disestesias do antebraço e mão homolaterias, desncadeadas por movimentos de abdução do ombro. Na observação, a manobra de hiperabdução do membro superior direito desencadeava os sintomas e um enfraquecimento significativo do pulso radial e da pressão arterial, que não sucediam no membro superior contralateral, tendo sido diagnosticada síndrome do desfiladeiro torácico à direita. Foi realizada tomografia axial computadorizada (TAC) da região torácica, que não revelou massas infra-claviculares nem axilares à direita. O ecodoppler do membro superior mostrou uma onda trifásica na artéria subclávia, realizou-se também angiografia das artérias subclávia e axilar do membro superior direito. Esta apresentou-se normal em posição neutra, mas, com o braço em abdução máxima, observou-se uma redução do contraste no interior da artéria axilar. Os autores propõem que, quando a clínica for sugestiva de SDT e existir uma suspeita de compressão vascular, deve ser realizada angiografia das artérias subclávia e axilar, para localizr e caracterizar a compressão. A SDT dessa paciente foi atribuída a uma hipotonia muscular do ombro, que foi ultrapassada após fisioterapia com exercícios de reforço dos músculos elevadores do ombro