Presentation
2 week history of headache. Forward head tilt. 6th nerve palsy.
Patient Data
Age: 7 years
Gender: Female
From the case:
Diffuse midline glioma H3-K27M-mutant
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Large brainstem lesion centred on the pons. Ventral, bilateral, symmetrical, engulfing basillar artery. T2 hyperintense and T1 hypointense. Heterogeneous with some more cystic components. No diffusion restriction. Small focal areas of contrast enhancement posteriorly, but generally no enhancement.
Pathology report conclusion
Overall, the appearances are those of a diffuse midline glioma, H3K27M mutant WHO grade 4.
Case Discussion
Appearances are of a diffuse midline glioma (previously diffusion intrinsic pontine glioma). The majority of these cases contain the M2 K27M mutation, and this was confirmed at biopsy.
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