PMC6488779_01
A, Sagittal short-Tau inversion recovery image through the cervical and upper thoracic
spine shows diffuse cord infiltration and expansion by a hyperintense mass with focal
increased heterogeneity in the lower cervical cord (arrow). B, Sagittal short-Tau
inversion recovery image through the lower thoracic spine shows inferior extent of the
hyperintense spinal cord mass to the T8 level (arrow). The expansile cord mass nearly
fills the thecal sac. C, Sagittal T1 postcontrast image shows subtle peripheral
enhancement in the lower cervical cord surrounding an area of nonenhancement likely
representing necrosis (arrow). D, Sagittal T1 postcontrast image shows subtle
leptomeningeal enhancement (double arrows).
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Magnetic resonance imaging (MRI) of the neuroaxis showed an abnormal appearance of the cervical and thoracic spinal cord with expansion and irregular areas of enhancement (Figure 1).
A and B, Sagittal fluid-attenuated inversion recovery and postcontrast T1W images do
not show intracranial lesion on the initial scan. C, Sagittal fluid-attenuated inversion
recovery through brain midline shows extensive metastasis along the brain stem,
cerebellum, and tuber cinereum (arrow). D, Sagittal postcontrast T1W through brain
midline shows faint, scattered enhancement in the extensive metastasis along the brain
stem, cerebellum, and tuber cinereum (arrow).
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Initial MRI brain was unremarkable (Figure 2A and B). The patient also required a tracheostomy to maintain the airway but died within 4 months after diagnosis as a result of intracranial spread of this metastatic disease (Figure 2C and D).
Microscopic examination demonstrates a moderately cellular glial neoplasm with a
nodular growth pattern (A, x10); the tumor cells have irregular, hyperchromatic nuclei,
and scant cytoplasm (B, x40); occasional mitotic figures are identified (C, x40); the
Ki-67 proliferation index is estimated at up to 12% (D, x10); glial fibrillary acidic
protein (GFAP) immunoreactive is shown in tumor cells (E, x40); an immunostain for
H3K27M mutant protein shows strong nuclear positivity.
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After several weeks, the pathology specimen examination revealed the diagnosis of diffuse midline glioma (World Health Organization [WHO] grade IV; Figure 3).
Posttreatment sagittal short-Tau inversion recovery through the cervical cord shows
significant improvement in cord expansion and signal, although some heterogeneity at C6
to C7 remains (arrow). Posttreatment sagittal short-Tau inversion recovery through the
thoracic cord shows improvement in cord expansion. Signal heterogeneity and areas of
myelomalacia are seen (arrow). Posttreatment sagittal postcontrast T1W image through
cervical cord shows linear diffuse leptomeningeal enhancement (arrow). Posttreatment
sagittal postcontrast T1W image through thoracic cord shows intraparenchymal patchy
enhancement in the mid thoracic cord (arrow). Thick, leptomeningeal enhancement (sugar
coating) along the conus medullaris surface (double arrows).
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Subsequently, the child regained some upper extremity muscle power (coinciding with some improvement in spinal imaging showed in Figure 4), but still remained profoundly weak in his lower extremities.