A case report on Winchester syndrome

Abstract

Winchester syndrome is a rare inherited disease characterized by severe osteolysis particularly in the hands and feet, generalized osteoporosis and absence of subcutaneous nodules. It is a group of hereditary metabolic diseases in which certain enzymes are lacking or defective that would normally break down molecules into smaller units, which leads to the accumulation of molecules in cells and tissues. A middle-aged female who is a known case of Juvenile inflammatory arthritis presented with complaints of deformities in hands, feet, knees, and hip joints. She was short stature and the random of motion of her ankle, knee, and hip was restricted. Winchester syndrome is an extremely rare disorder inherited as an autosomal recessive trait. Winchester syndrome is caused by an alteration in a gene called MMP2. Symptomatic treatment can be given with anti-inflammatory drugs and skeletal muscle relaxants. Physical therapy may be advised as a supportive measure to improve the functioning of affected limbs. Genetic counseling on the basis of the inheritance of this disease may be beneficial. Our patient was symptomatically managed with anti-inflammatory drugs and discharged with calcium supplements. Furthermore, regular physiotherapy and replacement surgeries for joints were done. This syndrome was first diagnosed in 1969; only a few cases have been reported in the medical literature till now.