Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review.

Gaucher's disease (GD) is a lysosomal storage disorder characterized by the storage of glucosylceramide in macrophages ("Gaucher cells"), mainly in the reticuloendothelial system. GD type 1 (GD1) is the most common phenotype that usually manifests with hepatosplenomegaly, cytopenias, and bone involvement. Skeletal manifestations are the most debilitating characteristic and result in significant morbidities.

Soft Tissue Sarcomas Mimicking Benign Inflammatory Processes: A Diagnostic Dilemma.

Background: Soft tissue sarcomas are rare and often go undetected until a later stage, particularly when they present as intra-articular or tenosynovial lesions mimicking benign synovial pathologies. The failure to distinguish between malignant and benign synovial disease can have a significant impact on patient outcomes and limit alternatives for local control surgery and limb salvage.

Case Description: In this case series, we present two cases of soft tissue sarcomas, one being an intraarticular synovial chondrosarcoma, and the other a pleomorphic spindle cell sarcoma centred along tendon sheaths.

Secondary Chondrosarcoma Arising in Synovial Chondromatosis of Wrist Joint.

Introduction: Chondrosarcoma of the synovium is a rare and malignant form of cartilaginous tumor that originates in synovial tissue. There have only been a limited number of reported cases of malignant transformation of synovial chondromatosis (SC) into secondary chondrosarcoma (SCH), primarily in the hip and knee, in patients with resistant illness. The occurrence of chondrosarcoma in SC of the wrist is highly uncommon, as evidenced by only a single previous case study that has been documented in the literature.

Monostotic Paget's Disease Involving the Scapula Encountered Incidentally on a Trans-arterial Aortic Valve Implantation Scan.

Paget's disease of the bone is a chronic bone disorder. However, to our knowledge, only a few cases of Paget's disease with isolated scapular involvement have been documented in the literature. In this case study, we describe an 81-year-old male patient who was incidentally diagnosed with monostotic Paget's disease of the left scapula during a computed tomography scan for the placement of a trans-arterial aortic valve.

Acute Disseminated Encephalomyelitis Following Thoracic Endovascular Aortic Repair.

Acute disseminated encephalomyelitis (ADEM) is a central nervous system demyelinating condition. The postulated etiology is an autoimmune reaction, however, the mechanistic details are yet unknown. While infection and immunization are the most prevalent precipitating causes of ADEM, we postulate that radiopaque contrast material might have played a role as an immunological trigger.

Radiological Appearance and Imaging Techniques in the Diagnosis of Advanced Central Pontine Myelinolysis.

Conventional magnetic resonance imaging (MRI) and computed tomography (CT) are used to diagnose central pontine myelinolysis (CPM), which is seen in the setting of osmotic changes, typically with the rapid correction of hyponatremia. However, they typically follow clinical symptoms and fail to detect myelinolytic lesions within the first two weeks, limiting their efficacy in early diagnosis. CPM can mimic brainstem ischaemic changes on CT head and a glioma on MRI.

Haemorrhagic Brain Metastasis From Malignant Pleural Mesothelioma: A Rare Case.

Malignant pleural mesothelioma (MPM) typically has a short median survival of only a few months from diagnosis, with death usually due to thoracic disease. This has led to the belief in the past that mesothelioma rarely has distant metastasis, with cerebral metastasis accounting for only 3%. The multiple cases of brain metastasis from MPM recorded so far were discovered after death at autopsy.

Radiological appearances of metastatic Marjolin ulcer in a chronic pressure sore: a case report and literature review.

Marjolin ulcer is a type of aggressive ulcerating squamous cell skin tumor that typically develops in areas of previously traumatized, burned, chronically inflamed, or scarred skin. It typically occurs following a period of dormancy. We present a rare case of Marjolin ulceration with an unusual combination of continued non-compliance after diagnosis and 40 years of unusually long latency.