ABSTRACT
Primary amyloidosis is a group of monoclonal plasma cell disorders, characterized by extracellular deposition of immunoglobulin light chain fibrils in multiple organs leading to progressive multiorgan dysfunction. It is a rare disease which usually occurs in elderly persons and has a poor prognosis. We report a 72-year-old male patient with chronic abdominal distension, bilateral pitting pedal edema with nephrotic range proteinuria and amyloid deposition in liver and bone marrow. Immunoelectrophoresis of serum demonstrated the presence of immunoglobulin light chains of the circulating monoclonal protein. He was treated with IV bortezomib and IV dexamethasone.
ABSTRACT
The muscular dystrophies are a group of hereditary degenerative diseases characterised by progressive myopathy. Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetically heterogenous type of muscular dystrophy characterized by early contractures (especially in the neck, elbows and ankles), slowly progressing muscle weakness more prominent in humeroperoneal region, onset in early childhood and cardiac problems. Emery-Dreifuss muscular dystrophy is commonly inherited in an X linked recessive pattern and rarely autosomal dominant inheritance or autosomal recessive fashion. Here we report a case of autosomal recessive type of Emery-Dreifuss muscular dystrophy from our hospital.
ABSTRACT
Intussusceptions originating in the jejunum are rare. We report a 20-year-old woman who had a chronic jejuno-jejunal intussusception due to an inflammatory fibroid polyp manifesting in the post-partum period as peritonitis. Resection-anastomosis of the intussuscepted segment was done. She is well one year later.
Subject(s)
Abdominal Pain/diagnosis , Adult , Biopsy, Needle , Female , Follow-Up Studies , Humans , Immunohistochemistry , Intestinal Polyps/complications , Intussusception/etiology , Jejunal Diseases/complications , Laparotomy/methods , Risk Assessment , Treatment OutcomeABSTRACT
Malignant mesenchymal tumours of the breast are relatively rare tumours that have yet to receive universal approval in terms of terminology. With classification based on histogenesis rapidly gaining acceptance, we present a case with histological features of both fibrosarcoma and malignant fibrous histiocytoma, with the former predominating. An unusual finding was the presence of large areas with haemangiopericytomatous appearance. The literature on changing concepts regarding classification of malignant mesenchymal tumours of the breast is reviewed.