Zespół żyły głównej górnej o obrazie nawracającego obrzęku Quinckego. Opis przypadku

Introduction. Superior vena cava syndrome (SVCS) is a complex ofsymptoms of different aetiology, characterized by facial oedema,cyanosis, phlebectasia of the upper half of the chest and glottis oedema.Objective. To present a case of a woman with symptoms and medicalhistory suggesting recurrent Quincke's oedema of drug-induced aetiology,who was finally diagnosed with SVCS due to ongoing pathologyin the mediastinum.Case report. We present a case of a 54-year old woman who twice in thelast year experienced oedema of the face, diagnosed and treated as recurrentQuincke's oedema of drug-induced aetiology. Allergic history waspositive – allergy to grass pollen (hay fever), several episodes of contactallergy. The patient was treated with antihistamines and glucocorticosteroids.Due to the unsatisfactory response to treatment during the secondepisode of oedema, the presence of dilated veins on the chest and theexacerbation of dyspnoea, mainly in the morning, computed tomography(CT) of the chest was performed. The image showed the presence ofpathological masses in the mediastinum and thrombi in the right atrium,the enlarged superior vena cava and the enlarged right jugular vein. Theimage suggested lymphoma and required further differentiation. Basedon the result of CT of the chest, SVCS was diagnosed.Conclusions. The presented case of the patient with face swelling diagnosedas recurrent Quincke’s oedema, with seemingly obvious druginductedaetiology, demonstrates the necessity of careful observationof the patient and reported symptoms. It also reflects the diagnostic difficulties,because many conditions may give cutaneous reactions superficiallyresembling angioedema

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13

Mesomelia-synostoses syndrome (MSS) or mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type is a rare autosomal-dominant disorder characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations. So far, five patients in four unrelated families have been reported worldwide with MMS. By using whole-genome oligonucleotide array CGH, we have identified an interstitial deletion at 8q13 in all patients. The deletions vary from 582 Kb to 738 Kb in size, but invariably encompass only two genes: SULF1, encoding the heparan sulfate 6-O-endosulfatase 1, and SLCO5A1, encoding the solute carrier organic anion transporter family member 5A1. SULF1 acts as a regulator of numerous growth factors in skeletal embryonic development whereas the function of SLCO5A1 is yet unknown. Breakpoint sequence analyses performed in two families showed nonrecurrent deletions. Real-time quantitative RT-PCR analysis showed the highest levels of SULF1 transcripts in human osteoblasts and cartilage whereas SLCO5A1 was highly expressed in human fetal and adult brain and heart. Our results strongly suggest that haploinsufficiency of SULF1 contributes to this mesomelic chondrodysplasia, highlighting the critical role of endosulfatase in human skeletal development. Codeletion of SULF1 and SLCO5A1—which does not result from a low-copy repeats (LCRs)-mediated recombination event in at least two families—was found in all patients, so we suggest that haploinsufficiency of SULF1 combined with haploinsufficiency of SLCO5A1 (or the altered expression of a neighboring gene through position effect) could be necessary in the pathogenesis of MSS