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Multiple spinal cavernous malformations with atypical phenotype after prior irradiation: case report
Pascal Jabbour1, Judith Gault, Steven E Murk
1Department of Neurosurgery, University of Colorado Health Sciences Center, Denver, Colorado, USA.
Neurosurgery
|December 3, 2004
Summary
This case presents multiple spinal cavernous malformations (CMs) in a patient with a history of radiation therapy, mimicking metastasis on MRI. This highlights a rare association between prior irradiation and spinal CM development.
Area of Science:
- Neurology
- Oncology
- Radiology
Background:
- Spinal cavernous malformations (CMs) are rare vascular lesions.
- Previous irradiation is an uncommon risk factor for spinal CMs.
Observation:
- A 33-year-old man with a history of Wilms' tumor and pelvic irradiation presented with multiple intraspinal lesions.
- Magnetic resonance imaging revealed atypical enhancing lesions mimicking metastasis.
- Family history revealed multiple cerebral CMs in a cousin.
Findings:
- Histopathological analysis confirmed multiple spinal cavernous malformations.
- Genetic testing for CCM1 mutation was negative.
- The lesions' MRI appearance, with uniform enhancement and lack of hemosiderin, was atypical for CMs.
Implications:
- This is the first reported case of multiple spinal CMs associated with prior irradiation.
- Atypical MRI findings can obscure the diagnosis of spinal CMs, leading to misdiagnosis as metastasis.
- This case expands the understanding of radiation-induced vascular malformations.