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Published on: September 4, 2017
Spinal involvement in pediatric familial cavernous malformation syndrome
Ana Filipa Geraldo1,2, Aysha Luis3,4, Cesar Augusto P F Alves5
1Diagnostic Neuroradiology Unit, Department of Radiology, Centro Hospitalar Vila Nova de Gaia/Espinho (CHVNG/E), Vila Nova de Gaia, Portugal.
Insights
Spinal cord cavernous malformations (SCCM) were found in 16% of pediatric familial cerebral cavernous malformation (FCCM) patients. Screening spine MRI is recommended for early detection, as these lesions can appear over time.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Familial cerebral cavernous malformations (FCCM) are genetic disorders associated with vascular lesions in the brain.
- Spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) are rare but can occur in FCCM patients.
- Limited data exists on the prevalence and characteristics of SCCM and ISVM in pediatric FCCM cohorts.
Purpose of the Study:
- To determine the prevalence and characteristics of SCCM and ISVM in pediatric FCCM patients.
- To evaluate clinico-radiological differences between pediatric FCCM patients with and without SCCM.
- To assess the utility of spine MRI screening in this population.
Main Methods:
- Retrospective analysis of brain and spine MRI studies from pediatric FCCM patients diagnosed between 2010 and 2021.
- Inclusion criteria: FCCM diagnosis and availability of at least one whole spine MRI.
- Clinical and genetic data were collected; statistical comparisons were made between SCCM-positive and SCCM-negative groups.
Main Results:
- Six SCCM were identified in 5 out of 31 (16%) pediatric FCCM patients, primarily in the cervical and upper thoracic regions.
- One SCCM appeared de novo during follow-up, suggesting potential for new lesion development.
- No intraosseous spinal vascular malformations (ISVM) were detected in the cohort. A trend towards older age at first spine MRI in SCCM+ patients was noted but lacked statistical significance.
Conclusions:
- SCCM can be detected in a significant proportion (16%) of pediatric FCCM patients, often asymptomatically.
- ISVM were absent in this cohort.
- Serial screening spine MRI starting in childhood is recommended for pediatric FCCM patients due to the potential for asymptomatic SCCM and de novo lesion formation.
Purpose:
The aim of the study was to assess the prevalence and characteristics of spinal cord cavernous malformations (SCCM) and intraosseous spinal vascular malformations (ISVM) in a pediatric familial cerebral cavernous malformation (FCCM) cohort and evaluate clinico-radiological differences between children with (SCCM +) and without (SCCM-) SCCM.
Methods:
All patients with a pediatric diagnosis of FCCM evaluated at three tertiary pediatric hospitals between January 2010 and August 2021 with [Formula: see text] 1 whole spine MR available were included. Brain and spine MR studies were retrospectively evaluated, and clinical and genetic data collected. Comparisons between SCCM + and SCCM- groups were performed using student-t/Mann-Whitney or Fisher exact tests, as appropriate.
Results:
Thirty-one children (55% boys) were included. Baseline spine MR was performed (mean age = 9.7 years) following clinical manifestations in one subject (3%) and as a screening strategy in the remainder. Six SCCM were detected in five patients (16%), in the cervico-medullary junction (n = 1), cervical (n = 3), and high thoracic (n = 2) regions, with one appearing during follow-up. A tendency towards an older age at first spine MR (P = 0.14) and [Formula: see text] 1 posterior fossa lesion (P = 0.13) was observed in SCCM + patients, lacking statistical significance. No subject demonstrated ISVM.
Conclusion:
Although rarely symptomatic, SCCM can be detected in up to 16% of pediatric FCCM patients using diverse spine MR protocols and may appear de novo. ISVM were instead absent in our cohort. Given the relative commonality of asymptomatic SCCM, serial screening spine MR should be considered in FCCM starting in childhood.
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