An Extremely Rare and Demanding Diagnosis of Primary Renal Synovial Sarcoma: A Case Report.

Primary renal synovial sarcoma (PRSS) is an extremely rare malignancy. The diagnosis of PRSS is unforeseen due to the absence of clinical and radiological typical aspects. Here, we present a case of a 69-year-old male with complaints of hematuria and left lumbar pain. Abdominal-pelvic computed tomography scan with contrast injection showed a solid mass of 8cm diameter in the left kidney and renal vein tumor thrombus. The patient was further subjected to robotic-assisted left radical nephrectomy and renal vein thrombectomy. We concomitantly performed left adrenalectomy and paraaortic lymphadenectomy. Immunohistochemical and genetic analysis revealed PRSS. This entity is characterized by abnormal chromosomal translocation t(X;18)(p11.2; q11.2) and consequently the characteristic SYT-SSX fusion gene. Due to the disease's rarity and severity, diagnosis and management of PRSS rely upon a demanding and multidisciplinary approach.

Rare paediatric case of agenesis of the vermiform appendix, ileal duplication and sickle cell disease.

This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare gastrointestinal malformations whose association has never been described. The preadolescent girl presented with abdominal pain and vomiting, and the ultrasound was suggestive of acute appendicitis. Surgical findings were agenesis of the vermiform appendix and a T-shaped ileal malformation with inflammatory changes. The patient underwent resection and ileal end-to-end anastomosis. Histopathological evaluation identified an ileal duplication, with small bowel and colonic mucosa, no communication to the adjacent ileum and ischaemic changes. At 8-month follow-up, the patient was asymptomatic.

Cystic Adventitial Disease of the Popliteal Vein, a Rare Cause of Lower Limb Deep Vein Thrombosis.

Introduction: Cystic adventitial disease (CAD) is characterised by the accumulation of gelatinous fluid within the adventitial layer of a blood vessel. Over 90% of CAD occurs in the arterial system. Venous CAD most commonly involves the iliofemoral rather than the popliteal segments. Report: This is the report of a 49 year old female patient with a previous right leg deep vein thrombosis (DVT). She presented to a vascular outpatient appointment with recurrent right lower extremity swelling. Venous duplex ultrasound showed an ectatic and incompetent right popliteal vein. Computed tomography (CT) venography showed focal ectasia of the right popliteal vein resulting from an eccentric low density cyst with a diameter of 15 mm. Under general anaesthesia, the patient was placed in the prone position. A lazy S incision was performed in the right popliteal fossa. The popliteal vein had an eccentrically thickened lateral bulge. After heparinisation, a longitudinal venotomy, endophlebectomy, and en bloc cyst removal were performed sequentially. Popliteal patch venoplasty was performed subsequently using the ipsilateral small saphenous vein. After six months, the patient remains on rivaroxaban. A follow up venous duplex ultrasound showed vein reflux through a standard calibre popliteal vein without evidence of cyst recurrence. Conclusion: Venous CAD is a rare disease and should be considered if previous DVT or symptoms mimicking DVT occur. Cyst resection and reconstruction with vein patch, venous or synthetic graft is the most commonly used strategy and has lower rates of cyst recurrence and need for re-operation.

Bone Marrow Granulomatosis in Acute Q Fever.

Reported cases of Q fever in people living in urban areas after occasional contact with farm animals or infected pets such as dogs and cats have been increasing. The diagnosis of Q fever is usually laborious due to unspecific and variable clinical manifestations. The most common clinical presentation is an influenza-like illness with varying degrees of pneumonia and hepatitis. Acute hepatitis is more frequent than pneumonia in countries where the disease is endemic, such as in Portugal. We report a case of acute Q fever with hepatic and bone marrow involvement presented as fever of unknown origin (FUO) in a 56-year-old sportive hunter man. Typical fibrin ring granulomas (doughnut granulomas) were found in the bone marrow biopsy and were essential for the diagnosis. Bone marrow involvement is considered a rare manifestation of Q fever. Coxiella infection activates a granulomatous inflammatory response that can lead to persistent immune cell activation. Doughnut granulomas are not pathognomonic but they are highly specific for the diagnosis of Q fever.