RESUMO
We hereby describe an unusual case of a 17-year-old female with severe mitral regurgitation secondary to heavily calcified immobile valve leaflets. Along with the mitral valve, corneas were also calcified, due to congenital systemic metabolic disorder, distal renal tubular acidosis. Histopathology proved that there was no intrinsic pathology of the mitral valve. Congenital distal renal tubular acidosis with normokalemia presenting with severe mitral and corneal calcification is not known. This case notes important clinical features and is thought to add to the existing knowledge regarding the disease. Patient succumbed to her illness during mitral valve surgery and genetic analysis was not done prior. This is the limitation of our reporting. In this modern era, specific clinical features are also important and of equal value to try and understand molecular and genetic basics of the diseases.
