An uncommon variant of rare type of muscular dystrophy

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

Primary systemic amyloidosis: a case report

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