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

• DOI: 10.1016/j.amsu.2021.102263
• Publication Date: 2021-03-27T16:29:50Z
• Authors: Sultan M. Jarrar; Suleiman S. Daoud; Omar F. Jbarah; Iyad S. Albustami; Moh'd Alamin Daise
• Keywords: Presentation (obstetrics)

Primary Glioblastoma Multiforme(GBM) of cervical spinal cord represent an extremely rare type tumors in the pediatric age group. Constitutional mismatch repair deficiency (CMMRD) patients are known to develop uni- or multiple synchronous-high grade gliomas brain.The authors report a 23 month old child presented with bilateral upper limb weakness for 7 days imaging evidence intramedullary mass lesion that extends from level C3 C7. The patient underwent excisional biopsy C7 and laminoplasty. Immunohistology confirmed primary GBM.Constitutional is cancer tendent syndrome associated broad spectrum malignancies. Screening CMMRD not daily practice oncology thus prevalence might be underestimated. To authors' knowledge, no prior GBM syndrome.This highlights challenges polymorphic presentations, diagnosis, complications, management surveillance.