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. 2022 Aug;64(8):1671-1679.
doi: 10.1007/s00234-022-02958-1. Epub 2022 Apr 22.

Spinal involvement in pediatric familial cavernous malformation syndrome

Ana Filipa Geraldo  1   2 , Aysha Luis  3   4 , Cesar Augusto P F Alves  5 , Domenico Tortora  6 , Joana Guimarães  7   8 , Sofia Reimão  2   9 , Marco Pavanello  10 , Patrizia de Marco  11 , Marcello Scala  12   13 , Valeria Capra  11 , Andrea Rossi  14   15 , Erin Simon Schwartz  5 , Kshitij Mankad  3 , Mariasavina Severino  6
Affiliations

Spinal involvement in pediatric familial cavernous malformation syndrome

Ana Filipa Geraldo et al. Neuroradiology. 2022 Aug.

Abstract

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.

Keywords: Cavernous malformation; Familial cavernous malformation syndrome; Magnetic resonance imaging; Spinal imaging.

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References

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