Concurrent multiple cerebral cavernous malformations and cauda equina paraganglioma: illustrative case

Area of Science:

• Neuroscience
• Oncology
• Genetics

Background:

• Cauda equina neuroendocrine tumors (CENETs), formerly cauda equina paragangliomas, and multiple cerebral cavernous malformations (CCMs) are rare central nervous system (CNS) conditions.
• The simultaneous occurrence of CENETs and CCMs in a single patient has not been previously documented in medical literature.

Purpose of the Study:

• To report a unique case of a patient presenting with both CENETs and multiple CCMs.
• To explore the potential implications of this co-occurrence regarding shared genetic or pathogenetic mechanisms.

Main Methods:

• Presentation of a clinical case involving a 45-year-old male patient.
• Review of the patient's medical history, diagnostic imaging (MRI), and tumor characteristics.
• Discussion of known genetic associations for CCMs and peripheral paragangliomas.

Main Results:

• The patient was diagnosed with a cauda equina neuroendocrine tumor (CENET).
• Incidental magnetic resonance imaging (MRI) findings revealed multiple cerebral cavernous malformations (CCMs).
• Genetic mutations commonly associated with familial CCMs (KRIT1, MGC4607, PDCD10) and peripheral paragangliomas (SDHx, RET, VHL, NF1) were considered in the context of the patient's conditions.

Conclusions:

• The co-occurrence of CENETs and multiple CCMs in this patient is a novel finding.
• It remains uncertain whether this simultaneous presentation is coincidental or indicative of an underlying shared pathogenesis or genetic link.
• Further investigation may be warranted to elucidate any potential relationship between these rare CNS disorders.