TY - JOUR
T1 - Pediatric spinal cord diffuse midline glioma, H3 K27-altered with intracranial and spinal leptomeningeal spread
T2 - A case report
AU - Serrallach, Bettina L.
AU - Tran, Brandon H.
AU - Bauer, David F.
AU - Mohila, Carrie A.
AU - Adesina, Adekunle M.
AU - McGovern, Susan L.
AU - Lindsay, Holly B.
AU - Huisman, Thierry A.G.M.
N1 - Publisher Copyright:
© The Author(s) 2022.
PY - 2022/10
Y1 - 2022/10
N2 - Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal cord high-grade gliomas have an aggressive course with poor prognosis. The aim of this case report is to present a 15-year-old female adolescent with histopathologically confirmed spinal cord GBM with H3F3A K27 M mutation consistent with a diffuse midline glioma (DMG), H3 K27-altered, CNS WHO grade 4 with leptomeningeal seeding on initial presentation. As imaging features of H3 K27-altered DMGs are non-specific and may mimic more frequently encountered neoplastic diseases as well as demyelinating disorders, severe neurological deficits at presentation with short duration, rapid progression, and early leptomeningeal seeding should however raise the suspicion for a pediatric-type diffuse high-grade glioma like DMG, H3 K27-altered.
AB - Primary spinal cord high-grade gliomas, including those histologically identified as glioblastoma (GBM), are a rare entity in the pediatric population but should be considered in the differential diagnosis of intramedullary lesions. Pediatric spinal cord high-grade gliomas have an aggressive course with poor prognosis. The aim of this case report is to present a 15-year-old female adolescent with histopathologically confirmed spinal cord GBM with H3F3A K27 M mutation consistent with a diffuse midline glioma (DMG), H3 K27-altered, CNS WHO grade 4 with leptomeningeal seeding on initial presentation. As imaging features of H3 K27-altered DMGs are non-specific and may mimic more frequently encountered neoplastic diseases as well as demyelinating disorders, severe neurological deficits at presentation with short duration, rapid progression, and early leptomeningeal seeding should however raise the suspicion for a pediatric-type diffuse high-grade glioma like DMG, H3 K27-altered.
KW - H3 K27-altered
KW - H3F3A K27 M mutation
KW - Pediatric
KW - diffuse midline glioma
KW - leptomeningeal carcinomatosis
KW - magnetic resonance imaging
KW - spinal cord glioblastoma
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U2 - 10.1177/19714009211067402
DO - 10.1177/19714009211067402
M3 - Article
C2 - 34989626
AN - SCOPUS:85122387416
SN - 1971-4009
VL - 35
SP - 634
EP - 639
JO - Neuroradiology Journal
JF - Neuroradiology Journal
IS - 5
ER -