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Updated: Jan 25, 2026
09:06
Live-3D-Cell Immunocytochemistry Assays of Pediatric Diffuse Midline Glioma
Published on: November 11, 2021
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Spinal Cord Diffuse Midline Glioma in a 4-Year-Old Boy
Ashutosh Kumar1,2,3, Salman Rashid1,2, Sumit Singh4
1Division of Pediatric Neurology, University of Alabama, Birmingham, AL, USA.
Child Neurology Open
|May 9, 2019
Summary
A pediatric case of spinal myelopathy was caused by a rare H3K27M mutant diffuse midline glioma. Early diagnosis via tissue biopsy is crucial for managing high-grade spinal cord gliomas in children.
Area of Science:
- Pediatric Neurology
- Neuro-oncology
- Spinal Cord Pathology
Background:
- Diffuse midline gliomas (DMGs) are aggressive brain tumors, often associated with the H3K27M mutation.
- Spinal cord involvement by DMGs is exceptionally rare, posing diagnostic challenges.
Observation:
- A 4-year-old boy presented with progressive gait difficulty, lower extremity weakness, and sensory deficits.
- Neuroimaging revealed cervical and thoracic spinal cord expansion with enhancement.
- Cerebrospinal fluid analysis showed pleocytosis, hypoglycorrhachia, and elevated protein.
Findings:
- A thoracic spinal cord biopsy confirmed a diffuse midline glioma (WHO grade IV).
- The tumor exhibited H3K27M mutation, a known oncogenic driver.
- Despite treatment, the patient experienced rapid disease progression and died within 4 months.
Implications:
- This case highlights the importance of considering high-grade spinal cord gliomas in the differential diagnosis of pediatric myelopathy.
- Prompt tissue biopsy is essential for accurate diagnosis and guiding therapeutic strategies in unclear pediatric spinal cord lesions.
- Further research into the pathogenesis and treatment of spinal DMGs is warranted.
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