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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.

SUBMITTER: Paul C 

PROVIDER: S-EPMC7752390 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Constitutional Mismatch Repair Deficiency Syndrome in a patient from India.

Paul Chandramallika C   Chakraborty Subhosmito S   Chakraborty Sarit S   Goswami Kalyan K  

Clinical case reports 20200903 12

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. ...[more]

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