Cystic meningioangiomatosis in neurofibromatosis type 2: an MRI-pathological study

Area of Science:

• Neurology
• Oncology
• Pathology

Background:

• Neurofibromatosis type 2 (NF2) is a genetic disorder predisposing individuals to tumors, primarily schwannomas and meningiomas.
• Cerebral cystic meningioangiomatosis is an exceptionally rare finding, with limited documented cases.
• This report details a unique presentation in an 18-year-old female patient.

Observation:

• The patient presented with progressive hemiparesis due to a foramen magnum meningioma.
• Magnetic Resonance (MR) imaging revealed additional small, cystic cortical and subcortical lesions.
• Despite surgical intervention for the meningioma, the patient experienced a fatal brainstem infarction.

Findings:

• Post-mortem histopathological examination confirmed enlarged subcortical perivascular spaces.
• These spaces were associated with meningioangiomatosis, a key finding in the cystic lesions.
• The confluence of NF2, meningioma, and cystic meningioangiomatosis presents an unusual pathological picture.

Implications:

• This case expands the spectrum of neurological manifestations associated with neurofibromatosis type 2.
• Understanding the pathogenesis of these cystic lesions in NF2 patients is crucial for potential future diagnostic and therapeutic strategies.
• The findings highlight the importance of comprehensive post-mortem analysis in elucidating rare disease presentations.