Gaucher's disease in a patient presenting with hip and abdominal pain

Summary Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease.

Malignant fibrous histiocytoma in a patient presenting with urinary system symptoms

Summary Malignant fibrous histiocytoma is a rare tumor. It is most commonly seen in individuals between the fifth and seventh decades of life, in extremities, and less frequently in the retroperitoneum. Although its etiology is not clearly known, radiotherapy, chemical agents, previous history of surgery, trauma and fracture, and Hodgkin lymphoma have been blamed. Leiomyosarcoma, liposarcoma and rhabdomyosarcoma should be taken into account in differential diagnosis. It is seen on computed tomography as a mass lesion with irregular borders and density similar to that of the surrounding muscle tissue. Necrotic and hemorrhagic components in the mass are characterized as heterogeneous low density areas. Fluid-fluid levels can be detected by computed tomography and magnetic resonance imaging.

Huge pancreas helps diagnosis in von Hippel-Lindau disease.

We describe five patients diagnosed with von Hippel-Lindau disease who complained of abdominal distension, pain and discomfort for a long time. All patients underwent ultrasonography, CT scan and MRI, which showed huge pancreas filled with multiple cysts. Additionally, extrapancreatic findings such as cerebellar hemangioblastoma (3 patients), retinal hemangioblastoma (2), renal cell carcinoma (3), renal adenoma (1), renal cysts (4), and splenic cyst (1) helped to reach the right diagnosis. One patient who had no known associated pathology had a family history of von Hippel-Lindau disease. Pancreatic cysts detected on imaging may be a clue to the diagnosis of von Hippel-Lindau disease. In all patients with multiple pancreatic cysts, this disease should be included in the differential diagnosis.