Ana Filipa Geraldo1,2, Aysha Luis3,4, Cesar Augusto P F Alves5, Domenico Tortora6, Joana Guimarães7,8, Sofia Reimão2,9, Marco Pavanello10, Patrizia de Marco11, Marcello Scala12,13, Valeria Capra11, Andrea Rossi14,15, Erin Simon Schwartz5, Kshitij Mankad3, Mariasavina Severino6. 1. Diagnostic Neuroradiology Unit, Department of Radiology, Centro Hospitalar Vila Nova de Gaia/Espinho (CHVNG/E), Vila Nova de Gaia, Portugal. 2. Clínica Universitária de Imagiologia, Faculty of Medicine of the University of Lisbon, Lisbon, Portugal. 3. Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. 4. Department of Radiology, King's College London, London, UK. 5. Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. 6. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. 7. Department of Neurology, Centro Hospitalar Universitário de São João, Porto, Portugal. 8. Department of Clinical Neusosciences and Mental Health, Faculty of Medicine of the University of Porto, Porto, Portugal. 9. Neuroimaging department, Hospital de Santa Maria, Lisbon, Portugal. 10. Neurosurgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. 11. Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. 12. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy. 13. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. 14. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. andrearossi@ospedale-gaslini.ge.it. 15. Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy. andrearossi@ospedale-gaslini.ge.it.
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.
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.
Authors: Richard E Clatterbuck; Bernard Cohen; Philippe Gailloud; Kieran Murphy; Daniele Rigamonti Journal: J Neurosurg Date: 2002-09 Impact factor: 5.115
Authors: Ana Filipa Geraldo; Cesar Augusto P F Alves; Aysha Luis; Domenico Tortora; Joana Guimarães; Daisy Abreu; Sofia Reimão; Marco Pavanello; Patrizia de Marco; Marcello Scala; Valeria Capra; Rui Vaz; Andrea Rossi; Erin Simon Schwartz; Kshitij Mankad; Mariasavina Severino Journal: Neuroradiology Date: 2022-10-06 Impact factor: 2.995