Primary cervical glioblastoma multiforme as a presentation of constitutional mismatch repair deficiency: Case report and literature review

Primary Glioblastoma Multiforme(GBM) of cervical spinal cord represent an extremely rare type of tumors in the pediatric age group. Constitutional mismatch repair deficiency (CMMRD) patients are known to develop uni- or multiple synchronous-high grade gliomas in the brain. The authors report a 23 month old child presented with bilateral upper limb weakness for 7 days with imaging evidence of intramedullary mass lesion that extends from the level of the C3 to C7. The patient underwent excisional biopsy from C3 to C7 and laminoplasty. Immunohistology confirmed primary cervical GBM. Constitutional mismatch repair deficiency is cancer tendent syndrome associated with broad spectrum of malignancies. Screening for CMMRD is not a daily practice in oncology and thus prevalence might be underestimated. To authors’ knowledge, no prior primary cervical GBM in CMMRD syndrome. This report highlights the challenges of CMMRD polymorphic presentations, diagnosis, complications, management and surveillance. •Primary Glioblastoma of cervical spinal cord tumors represent an extremely rare type of tumors in the pediatric age group.•CMMRD is a childhood cancer predisposing syndrome caused by germline biallelic autosomal recessive mutations or by compound heterozygous mutations in the MMR genes.•CMMRD predispose to develop a board spectrum of neuronal origin, hematologic, genitourinary or gastro-intestinal tract tumors.•CMMRD syndrome patients can have hypo/hyper-pigmentation spots, café-au-lait spots, less frequently freckles and Lisch nodules.