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Hemorrhagic presentation of a DICER-1-mutant primary intracranial sarcoma with negative MR spectroscopy: illustrative
Elias Geist1, Callum D Dewar1,2, Richard Crawford2
1Department of Neurosurgery, Walter Reed National Military Medical Center, Bethesda.
Background:
Spontaneous intraparenchymal hemorrhage (IPH) carries significant morbidity and mortality. The etiology of secondary spontaneous IPH, which results from an underlying mass lesion or vascular anomaly, may be obscured on radiographic investigation by the overlying hemorrhage, even when advanced imaging modalities are used. This may lead to a delay in both diagnosis and initiation of targeted therapy.
Observations:
A 55-year-old man presented multiple times over an approximately 5-month period with recurrent, symptomatic right frontal IPH. During his initial evaluations, multiple imaging modalities, including MR spectroscopy, failed to identify an underlying lesion. Only on his most recent presentation did MRI demonstrate evidence of a hemorrhagic mass, which was subsequently resected and found to be a primary intracranial sarcoma.
Lessons:
This case demonstrates the need to interpret negative MR spectroscopy results with caution in cases of hemorrhagic neoplasms. Furthermore, it highlights the difficulty when determining optimal resection timing in cases of spontaneous IPH without a clear etiology. https://thejns.org/doi/10.3171/CASE25899.
Insights
Recurrent intraparenchymal hemorrhage (IPH) can obscure underlying tumors. Caution is needed when interpreting negative MR spectroscopy results in hemorrhagic neoplasms to ensure timely diagnosis and treatment.
Area of Science:
- Neurology
- Neurosurgery
- Radiology
Background:
- Spontaneous intraparenchymal hemorrhage (IPH) is associated with high morbidity and mortality.
- Identifying the cause of secondary IPH, such as tumors or vascular malformations, can be challenging due to overlying hemorrhage on imaging.
- Delayed diagnosis of the underlying etiology can impede targeted therapy.
Purpose of the Study:
- To highlight the diagnostic challenges in recurrent intraparenchymal hemorrhage (IPH) cases.
- To emphasize the importance of reconsidering imaging findings in the context of persistent symptoms.
- To discuss the implications of negative MR spectroscopy in suspected hemorrhagic neoplasms.
Main Methods:
- Case report of a 55-year-old male with recurrent symptomatic right frontal IPH over five months.
- Utilized multiple imaging modalities, including MR spectroscopy, during initial evaluations.
- Final diagnosis was established via MRI revealing a hemorrhagic mass, followed by surgical resection.
Main Results:
- Initial imaging, including MR spectroscopy, failed to detect an underlying lesion.
- Recurrent hemorrhage eventually led to MRI detection of a hemorrhagic mass.
- Surgical resection confirmed the mass as a primary intracranial sarcoma.
Conclusions:
- Negative MR spectroscopy results should be interpreted cautiously in patients with hemorrhagic neoplasms.
- The presence of hemorrhage can mask underlying neoplastic or vascular lesions.
- Determining optimal timing for resection in spontaneous IPH of unclear etiology remains a clinical challenge.
