Spinal involvement in pediatric familial cavernous malformation syndrome

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.