ABSTRACT
A 58-year-old man was admitted to our hospital complaining of right chest pain. Chest X-ray and chest computed tomography (CT) disclosed a 9 cm mass in the right anterior mediastinum. The tumor demonstrated low signal intensity on T1-weighted images, and high signal intensity on T2-weighted images. It showed delayed enhancement on dynamic magnetic resonance (MR). The operation was performed and the tumor including the infiltrated pericardium and upper and middle lobe of right lung was resected. Histologically, the tumor showed a multinodular proliferation of spindle-shaped or polygonal tumor cells with abundant myxoid background. The histopathological diagnosis of the tumor was myxoid malignant fibrous histiocytoma (MFH). This is a case report of primary myxoid MFH in the anterior mediastinum. The case is rare in its primary site, but it is typical in CT and MR findings.
Subject(s)
Histiocytoma, Malignant Fibrous/pathology , Mediastinal Neoplasms/pathology , Humans , Male , Middle AgedABSTRACT
We present a 26-year-old woman with glycogen storage disease type III (debranching enzyme deficiency) complicated with liver cirrhosis and hypertrophic cardiomyopathy. Glycogen debranching enzyme has two catalytic sites, oligo-1,4,-1,4- glucantransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33). Variability in the clinical phenotype could be a function of the involvement of one or other catalytic site, or differences in tissue expression of the defective enzyme, or both. We hypothesize that some subtypes of glycogen storage disease (GSD) type III may cause liver cirrhosis as seen in GSD type IV due to the accumulation of glycogen of abnormal structure.