Spinal cord diffuse midline glioma with H3K27M mutation: case report in a pediatric patient

Introduction/Background: Pediatric diffuse midline gliomas are predominantly localized within the brainstem, pons, or are bi-thalamic, while in adolescents and adults, they predominantly arise unilaterally in the thalamus or spinal cord. Epidemiological data remain scarce for this recently described entity. They represent 10-15% of all pediatric brain tumors and 75% of all pediatric brainstem tumors.  Case presentation: Herein we report a case of Diffuse Midline Glioma in a 10-year-old male pediatric patient, with an unusual location in the spinal cord, presenting with atypical clinical features. Histopathological and immunohistochemical analysis confirmed the diagnosis and the presence of K27M (lysine to methionine at codon 27) mutations in the histone 3 gene. Conclusions: Early and differential diagnosis of atypical spinal cord tumors is crucial to avoid dismal consequences for the patient and provide them with a better quality of life. Highlighting rare cases with fatal outcomes is essential for emphasizing the importance of understanding this pathological entity within the medical community.