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.
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| http://dx.doi.org/10.1002/ccr3.3249 | DOI Listing |
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Article Synopsis
- Mismatch repair (MMR) deficiency can lead to diseases like constitutional mismatch repair deficiency (CMMRD) syndrome and Lynch syndrome (LS), both linked to various tumors, including brain cancers, mainly affecting adults but with some pediatric cases.
- A study from hospitals in Hong Kong identified five patients with MMR gene mutations, revealing that four had CMMRD syndrome with various brain tumors and one had LS associated with a medulloblastoma at age 10.
- The study noted that all CMMRD patients had café-au-lait macules (CALMs) since birth, and highlighted the challenges in diagnosing CMMRD due to similarities with other syndromes, emphasizing the need for better clinical differentiation of CALM-related genetic
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