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A rare presentation of a spinal diffuse midline glioma in a child: a case report
Zineb Isfaoun1, Khadija Laasri2, Manal Jidal2
1Mohammed V University, Pediatric Hematology and Oncology Department, Children's Hospital in Rabat, Rabat, Morocco.
Abstract:
Our patient had an extremely rare type of pediatric Diffuse Midline Glioma (DMG) with modified H3 K27 that occurred in the cervical spinal cord. Due to its location in the spinal cord, slow clinical presentation with torticollis for 7 months, and the non-specific radiological appearance of this tumour, it was initially considered to be a low-grade glioma. Based on imaging findings, the neurosurgery team performed a complete surgical resection, but the pathological features were consistent with a high-grade, diffuse midline glioma. Therefore, we are reporting a case of an altered high-grade DMG H3K27 glioma, which is difficult to diagnose due to its slow clinical symptoms which caused a delay in diagnosis, non-specific imaging, and with difficulty in accessing histopathological markers in low and middle income countries (LMIC).
Insights
This case highlights an extremely rare pediatric Diffuse Midline Glioma (DMG) H3K27 variant in the spinal cord. Delayed diagnosis resulted from slow symptoms and non-specific imaging, posing challenges in low and middle-income countries.
Area of Science:
- Neuro-oncology
- Pediatric Neurosurgery
- Molecular Pathology
Background:
- Diffuse Midline Glioma (DMG) with H3 K27 alteration is a rare pediatric brain tumor.
- Spinal cord involvement in pediatric DMG is exceptionally uncommon.
- Accurate diagnosis is crucial for appropriate treatment and prognosis.
Observation:
- A pediatric patient presented with torticollis for 7 months, initially misdiagnosed as low-grade glioma due to slow progression and non-specific imaging.
- The tumor was located in the cervical spinal cord, presenting diagnostic and surgical challenges.
- Complete surgical resection was performed, but pathology confirmed a high-grade DMG H3K27 alteration.
Findings:
- The case demonstrates an altered high-grade DMG H3K27 glioma presenting atypically in the spinal cord.
- Slow clinical presentation and non-specific radiological findings contributed to diagnostic delays.
- Histopathological marker accessibility in low and middle-income countries (LMICs) presents a significant hurdle.
Implications:
- This case underscores the importance of considering rare diagnoses even with atypical presentations.
- Improved diagnostic strategies and accessibility to molecular markers are needed, especially in LMICs.
- Early and accurate diagnosis of pediatric spinal cord DMG H3K27 is critical for patient outcomes.
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