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. 2024 Aug 5;8(6):CASE24102.
doi: 10.3171/CASE24102. Print 2024 Aug 5.

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

Daniel Liu  1 , Michael Rodriguez  2   3 , Dominic Ross  4 , Ali Ghahreman  1
Affiliations

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

Daniel Liu et al. J Neurosurg Case Lessons. .

Abstract

Background: Cauda equina neuroendocrine tumors (CENETs), previously known as cauda equina paragangliomas, and multiple cerebral cavernous malformations (CCMs) are uncommon conditions affecting the central nervous system. To the authors' knowledge, they have not been reported in the same patient.

Observations: The authors present the case of a 45-year-old male with CENET and concurrent incidental MRI findings of multiple CCMs. Familial CCMs are associated with mutations in the KRIT1 (CCM1), MGC4607 (CCM2), and PDCD10 (CCM3) genes. Peripheral paragangliomas have been associated with mutations in succinate dehydrogenase (SDHx), RET (multiple endocrine neoplasia 2), VHL (von Hippel-Lindau syndrome), and NF1 (neurofibromatosis type 1) genes. Except for a single case, cauda equina paragangliomas have not been associated with any underlying genetic mutations.

Lessons: It is unclear whether the co-occurrence of these two rare conditions in the same patient is coincidental or suggests a possible shared pathogenesis. https://thejns.org/doi/10.3171/CASE24102.

Keywords: cauda equina; cerebral cavernous malformation; neuroendocrine; paraganglioma; tumor.

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Figures

FIG. 1.
FIG. 1.
Sagittal (left) and axial (right) postcontrast T1-weighted MRI scans demonstrating an avidly enhancing, well-circumscribed ovoid intradural extramedullary lesion in the cauda equina.
FIG. 2.
FIG. 2.
Intraoperative photograph showing a well-circumscribed vascular encapsulated intradural tumor.
FIG. 3.
FIG. 3.
Representative sections of the paraganglioma after hematoxalin and eosin staining. Original magnification unknown.
FIG. 4.
FIG. 4.
Immunohistochemical staining with synaptophysin (A), chromogranin A (B), S100 (C), showing sustentacular cells, and pancytokeratin (D). Original magnification unknown.
FIG. 5.
FIG. 5.
Axial T2 susceptibility-weighted MRI sequences showing multiple punctate foci of magnetic susceptibility in the cerebral hemispheres, which represent CCMs. These are seen in the right frontal pole, both parietal lobes (A), the left occipital lobe (C), and the right temporal lobe (B).
See this image and copyright information in PMC

References

    1. Revencu N, Vikkula M. Cerebral cavernous malformation: new molecular and clinical insights. J Med Genet. 2006;43(9):716-721. - PMC - PubMed
    1. Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M. KRIT1 is mutated in hyperkeratotic cutaneous capillary–venous malformation associated with cerebral capillary malformation. Hum Mol Genet. 2000;9(9):1351-1355. - PubMed
    1. Robinson JR, Awad IA, Little JR. Natural history of the cavernous angioma. J Neurosurg. 1991;75(5):709-714. - PubMed
    1. Gross BA, Du R. Hemorrhage from cerebral cavernous malformations: a systematic pooled analysis. J Neurosurg. 2017;126(4):1079-1087. - PubMed
    1. McNicol AM. Adrenal medulla and paraganglia. In: Lloyd RV, ed. Endocrine Pathology: Differential Diagnosis and Molecular Advances. Springer; 2010.

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