Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

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.