Lifethreatening tracheal obstruction in a child caused by nodular fasciitis: case presentation

Background Nodular fasciitis (NF) is a rare non-neoplastic inflammatory tumor and usually presents as a painless, rapidly growing subcutaneous soft tissue mass. The head and neck are relatively common locations for nodular fasciitis, particularly in children. NF in the trachea is rare and may evolve to a fatal condition, especially due to its rapidly growing nature that can cause life-threatening tracheal obstruction. Case presentation We report the case of a 5-year-old child with NF in the trachea and subtotal tracheal obstruction. Bronchoscopy and biopsy proved the diagnosis, and bronchoscopic excision of the tumor was performed. Conclusions NF is a rare airway tumor, occurring mostly in adults, and may presenting with pneumonia-like symptoms. Early detection of the lesion is essential to avoid life-threatening airway obstruction.

Features of infective native aortic aneurysms on computed tomography

Background Infective native aortic aneurysm (INAA) is a rare clinical diagnosis. The purpose of this study was to describe the CT findings of INAAs in detail. Methods This was a retrospective single-center study of INAA patients at a major referral hospital between 2005 and 2020. All images were reviewed according to a protocol consisting of aneurysm features, periaortic findings, and associated surrounding structures. Results One hundred and fourteen patients (mean age, 66 years [standard deviation, 11 years]; 91 men) with 132 aneurysms were included. The most common locations were infrarenal (50.8%), aortoiliac (15.2%), and juxtarenal (12.9%). The mean transaxial diameter was 6.2 cm. Most INAAs were saccular (87.9%) and multilobulated (91.7%). Calcified aortic plaque was present in 93.2% and within the aneurysm in 51.5%. INAA instability was classified as contained rupture (27.3%), impending rupture (26.5%), and free rupture (3.8%). Rapid expansion was demonstrated in 13 of 14 (92.9%) aneurysms with sequential CT studies. Periaortic inflammation was demonstrated as periaortic enhancement (94.7%), fat stranding (93.9%), soft-tissue mass (92.4%), and lymphadenopathy (62.1%). Surrounding involvement included psoas muscle (17.8%), spondylitis (11.4%), and perinephric region (2.8%). Twelve patients demonstrated thoracic and abdominal INAA complications: fistulas to the esophagus (20%), bronchus (16%), bowel (1.9%), and inferior vena cava (IVC) (0.9%). Conclusion The most common CT features of INAA were saccular aneurysm, multilobulation, and calcified plaques. The most frequent periaortic findings were enhancement, fat stranding, and soft-tissue mass. Surrounding involvement, including psoas muscle, IVC, gastrointestinal tract, and bronchi, was infrequent but may develop as critical INAA complications.

Intra and extraarticular localized pigmented villonodular synovitis

<p class="abstract">A 28 year old woman had a history of knee trauma and presented with unilateral knee acute swelling and pain symptoms with sudden onset, which was there from last 2 years. She had been treated for seronegative rheumatoid patient for 1 year. Recent expansion of the LPVNS (localized pigmented villonodular synovitis) caused the development of a tender palpable soft tissue mass in the anterolateral aspect of the knee and acute reduced mobility. Preoperative magnetic resonance imaging of the knee revealed the presence of only the soft tissue mass and mild degenerative changes. Open synovectomy was performed successfully to excise the mass. Intraoperatively, macroscopic features of the bright brown inflamed synovium suggested LPVNS, which was confirmed histopathologically. Postoperatively, the symptoms of limited mobility and pain were appreciably relieved. Recurrence was not observed during the clinical follow up at 1, 6 or 18 months after surgery. Here, we reported the unique case of localized pigmented villonodular synovitis of the knee in a misdiagnosed patient with intra and extraarticular lesion, which might be attributed to the history of knee trauma and the focal defect of the lateral patellar retinaculum. Open synovectomy effectively relieved the symptoms of limited mobility and pain and no recurrence was observed prior to 18 months postoperatively. To reduce misdiagnosis, MRI examinations are recommended for all patients suspected of having PVNS, including those who have a history of hyperuricemia.</p>

Nevus lipomatosus cutaneous superficialis presenting as papilloma: A case report

Nevus Lipomatosus Cutaneous Superficialis (NLCS) is an uncommon hamartomatous lesion of the skin. NLCS is classified into two clinical forms classic and solitary. Some authors consider this lesion as a type of connective tissue nevus. We report a rare case of solitary NLCS in a 69 year old male with a long history of pedunculated swelling in the right gluteal cleft with review of literature. On gross appearance the lesion was a grey brown, exophytic, cerebriform, smooth skin covered soft tissue mass measuring 4.5 cms in the largest dimension with a broad peduncle attached. On histopathological examination the lesion showed superficial and deep dermal infiltration of the adipose tissue with distortion of the dermal collagen.

High grade non-germinal centre-like diffuse large B-cell lymphoma double expressor presenting as a hydrocoele

A 72-year-old man was referred to our urology outpatient department with a left hemi-scrotal swelling increasing in size over a matter of weeks, initially suspicious for a left hydrocoele. Initial investigation with ultrasound (US) identified a heterogenous enlargement of the left testis and epididymis with a soft tissue mass extending through the inguinal canal. Subsequent CT detected this soft tissue mass to extend along the left gonadal vein to the level of the left renal vein. A biopsy of the retroperitoneal mass confirmed a diagnosis of diffuse large B-cell lymphoma. Immunohistochemical staining further categorised this lymphoma as double expressor but not double hit.Through multidisciplinary team involvement the patient was treated with combination steroids and chemotherapy. Given the scrotal involvement this was considered a sanctuary site for chemotherapy therefore the patient also received radiotherapy to the scrotum. He recovered well following his treatment. This case highlights how early specialist referral can identify rare variants of disease. Essential preoperative imaging with US prior to treating a presumed hydrocoele prevented inappropriate surgical excision. A multidisciplinary team approach improved the patient’s outcome and is hoped to have improved his chances of recurrence-free survival.

Plasma metabolomic profiling of hypertrophic cardiomyopathy patients before and after surgical myectomy suggests postoperative improvement in metabolic function

Background Hypertrophic cardiomyopathy (HCM) is a common inherited heart disorder complicated by left ventricle outflow tract (LVOT) obstruction, which can be treated with surgical myectomy. To date, no reliable biomarkers for LVOT obstruction exist. We hypothesized that metabolomic biomarkers for LVOT obstruction may be detectable in plasma from HCM patients. Methods We conducted metabolomic profiling on plasma samples of 18 HCM patients before and after surgical myectomy, using a commercially available metabolomics platform. Results We found that 215 metabolites were altered in the postoperative state (p-value < 0.05). 12 of these metabolites were notably significant after adjusting for multiple comparisons (q-value < 0.05), including bilirubin, PFOS, PFOA, 3,5-dichloro-2,6-dihydroxybenzoic acid, 2-hydroxylaurate, trigonelline and 6 unidentified compounds, which support improved organ metabolic function and increased lean soft tissue mass. Conclusions These findings suggest improved organ metabolic function after surgical relief of LVOT obstruction in HCM and further underscore the beneficial systemic effects of surgical myectomy.

Profunda Brachii Pseudoaneurysm following Supracondylar Fracture of Humerus Repair in an 8-Year-Old Boy: A Case Report and Review of Literature

Arterial pseudoaneurysm can manifest in almost all arteries, but peripheral ones such as brachial artery pseudoaneurysm are rare and typically happen after trauma or infections. We describe an 8-year-old boy who presented with a large nonpulsatile soft tissue mass-like lesion 20 days after supracondylar fracture of the humerus which was fixed using Kirschner wire. The neurovascular examination was normal; CT angiography revealed a large pseudoaneurysm arising from the left profunda brachii artery. The patient went under surgical repair and was discharged from the hospital with an uneventful postop course. A high index of suspicion is necessary in cases with humeral fractures for the early diagnosis of pseudoaneurysm where the delayed diagnosis may cause fatal outcomes.

Extraskeletal mesenchymal chondrosarcoma mimicking a thrombosed venous aneurysm with femoral vein involvement: A case report

Introduction/Objective Mesenchymal chondrosarcoma is a high-grade primitive mesenchymal tumor, which accounts for &lt;5% of all chondrosarcomas and commonly affects young adults (peak incidence in second to third decade of life). The tumor has a widespread anatomic distribution, frequently involving the craniofacial bones as well as extraskeletal sites. The clinical presentation of an inguinal mass mimicking a thrombosed venous aneurysm is unusual and represents a potential diagnostic pitfall. Methods/Case Report A 42-year-old female with hypertension and obesity initially presented with a two-week history of left lower leg swelling. Venous doppler revealed presumed venous thrombosis, and she was prescribed apixaban while no history of coagulopathy, immobility, or recent surgery was noted. Two months later, she had residual swelling. Follow-up CT scan favored a large, peripherally thrombosed venous aneurysm arising from the left common femoral vein, while MRI showed a lobulated, inguinal soft tissue mass abutting the vein. Biopsy of the mass demonstrated a spindle cell mesenchymal neoplasm; subsequent resection revealed a pink-to-tan, well-circumscribed, and encapsulated mass (5.2 cm) with focal left common femoral vein invasion. Microscopically, the lesion demonstrated poorly-differentiated, oval-to-spindle cells with prominent staghorn vasculature interspersed were focal areas of well-differentiated hyaline cartilage. Immunohistochemical stains showed that the lesional cells were negative for cytokeratin cocktail, EMA, SMA, desmin, S100 protein, SOX10, STAT6, MUC4, MDM2, and ER. Next-generation sequencing (NGS) revealed a HEY1-NCOA2 gene fusion, confirming the diagnosis of extraskeletal mesenchymal chondrosarcoma. Results (if a Case Study enter NA) N/A Conclusion Extraskeletal mesenchymal chondrosarcoma can rarely present as an inguinal soft tissue mass with vascular invasion, mimicking a thrombosed venous aneurysm. Molecular confirmation of HEY1-NCOA2 gene fusion can help confirm the diagnosis in unusual clinical presentations.

Pseudoaneurism of the brachial artery mimicking a soft tissue sarcoma: Case report

The current case is one of the rare clinical presentations of the brachial artery pseudo aneurysm presentation in children Pseudo-aneurism is one of the late complications of a missed or untreated arterial injury. The diagnosis is suggested in the presence of clinical signs such as: an expending, ill-defined mass with or without pulsation; bruit, pain, paresthesia, or paralysis due to nerve compression. Although plain X-Rays may show a nonspecific soft tissue mass, arteriography is essential in defining differentiating pseudo aneurisms from other soft masses. We report a case of a 10years old boy with a history of a stab injury in a well vascularized left cubital fossa region. The physical examination revealed a soft tissue mass with eroded skin. Ultrasound and MRI findings were respectively of an infected soft tissue mass and probable malignant soft tissue mass. Open biopsy was planned but surgical finding revealed a pseudo aneurism of the left brachial artery before its bifurcation. Brachial arterial lesion was repaired blood flow reestablished with clinical improvement.

Secondary Pulmonary Vein Stenosis Due to Total Anomalous Pulmonary Venous Connection Repair in Children: Extravascular MDCT Findings

Purpose: To evaluate extravascular findings on thoracic MDCT angiography in secondary pulmonary vein stenosis (PVS) due to total anomalous pulmonary venous connection (TAPVC) repair in children. Materials and Methods: All patients aged ≤18 years with a known diagnosis of secondary PVS after TAPVC repair, confirmed by echocardiography, conventional angiography, and/or surgery, who underwent thoracic MDCT angiography studies between July 2008 and April 2021 were included. Two pediatric radiologists independently examined MDCT angiography studies for the presence of extravascular thoracic abnormalities in the lung, pleura, and mediastinum. The location and distribution of each abnormality (in relation to the location of PVS) were also evaluated. Interobserver agreement between the two independent pediatric radiology reviewers was studied using kappa statistics. Results: The study group consisted of 20 consecutive pediatric patients (17 males, 3 females) with secondary PVS due to TAPVC repair. Age ranged from 2 months to 8 years (mean, 16.1 months). In children with secondary PVS due to TAPVC repair, the characteristic extravascular thoracic MDCT angiography findings were ground-glass opacity (19/20; 95%), septal thickening (7/20; 35%), pleural thickening (17/20; 85%), and a poorly defined, mildly heterogeneously enhancing, non-calcified soft tissue mass (17/20; 85%) which followed the contours of affected pulmonary veins outside the lung. There was excellent interobserver kappa agreement between two independent reviewers for detecting extravascular abnormalities on thoracic MDCT angiography studies (k = 0.99). Conclusion: Our study characterizes the extravascular thoracic MDCT angiography findings in secondary pediatric PVS due to TAPVC repair. In the lungs and pleura, ground-glass opacity, interlobular septal thickening, and pleural thickening are common findings. Importantly, the presence of a mildly heterogeneously enhancing, non-calcified mediastinal soft tissue mass in the distribution of the PVS is a novel characteristic thoracic MDCT angiography finding seen in pediatric secondary PVS due to TAPVC repair.