Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

Abstract

Abstract This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein electrophoresis interpretation.

Keywords

• constitutional mismatch repair deficiency
• electrophoresis
• microsatellite instability