Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families

Graeni, C; Stepper, Frank; Sturzenegger, Mathias; Merlo, Adrian; Verlaan, Dominique J.; Andermann, F.; Baumann, Christian R.; Bonassin, Francesca; Georgiadis, Dimitrios; Baumgartner, Ralf W.; Rouleau, Guy; Siegel, Adrian M.

doi:10.1007/s10143-009-0225-1

Cited by 8 publications

(4 citation statements)

References 31 publications

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“…In a previous study, the mean age at clinical onset varied between 1 and 79 years (mean: 27.9 years) [11]. Herein, the mean age at clinical onset was between 2.25 and 11 years (mean: 17.37 ± 3.26 years) in only the pediatric age group.…”

Section: Discussionmentioning

confidence: 54%

Clinical range and outcomes of cerebral cavernous malformations in pediatric patients: A single center data results

Sel

Köken

Kayılıoğlu

et al. 2022

Preprint

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Purpose Cerebral cavernous malformations (CCMs) are vascular abnormalities that have been reported in the literature to cause seizures, headaches, intracerebral hemorrhages, gait ataxia, and focal neurological deficits. This study aims to review pediatric cases of CCMs in a single reference center. Materials and methods The retrospective data files of 6 Turkish CCM patients were evaluated. All the patients underwent magnetic resonance imaging (MRI) studies that included diffusion-weighted imaging, and susceptibility-weighted imaging (SWI). During a detailed neurological examination, the clinical and family history, age at the onset of symptoms, detailed neuroimaging findings, electroencephalogram (EEG) records, and outcomes of the patients were documented. Results The female to male ratio was 3/3. The age at the onset of symptoms was between 2.25 and 11 years (mean: 17.37 ± 3.26 years). The neurological manifestations on admission were: intracranial hypertension and cerebral hemorrhages (n: 1), seizures (n: 2), speech delays and articulation phonation problems (n: 2), and specific learning disability disorders (n: 1). The common neuroimaging findings of all the patients were that all of them had CCMs on their SWI sequences and were type 4 on the Zambramski classification of cerebral cavernomas. Conclusions Specific learning disabilities, speech delays and phonation problems, and focal and multifocal epileptic EEG discharges, with or without clinical seizures, can be indicators of underlying pediatric CCMs. The sensitivity of SWI in detecting CCMs was very high in children, as all the patients’ lesions in this study were type 4 on the Zambramski classification of cerebral cavernomas.

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Section: Discussionmentioning

confidence: 54%

Clinical range and outcomes of cerebral cavernous malformations in pediatric patients: A single center data results

Sel

Köken

Kayılıoğlu

et al. 2022

Preprint

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“…The mass lesion in this dog was consistent with a cavernous hemangioma, a benign vascular neoplasm consisting of abnormally dilated vascular channels lined by epithelium without mural muscular or elastic fibers . Cerebral cavernous hemangioma in people can occur sporadically or as an autosomal dominant trait in which over 40% are associated with mutations in the Krit1 (CCM1) gene . In people with cavernous hemangioma, microhemorrhages lead to a hemosiderin fringe in the surrounding parenchyma and gliosis .…”

Section: Discussionmentioning

confidence: 68%

Novel Approach to Temporal Lobectomy for Removal of a Cavernous Hemangioma in a Dog

et al. 2014

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“…Familial studies indicate that the KRIT1 mutation appears to be the most common ( 7 ). Italian, Swiss, French, Hispanic, and Chinese cohorts have shown primarily KRIT1 mutations ( 8 , 9 , 10 , 11 , 12 ); a German family displayed a novel large deletion encompassing the CCM3 gene ( 13 ), and families from Spain and Portugal were shown to have mutations of the CCM2 gene ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

Nicholas-Bublick

Koffman

2012

Radiology Case Reports

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We present a family afflicted by both extensive cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs). These may be inherited in an autosomal dominant pattern or occur sporadically. The presentation varies and may include a multitude of clinical symptoms separated in time and space. Cavernous malformations should be considered in the differential diagnosis of such entities as stroke, headache, multiple sclerosis, and new-onset seizures after an intraparenchymal hemorrhage.

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Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families

Cited by 8 publications

References 31 publications

Clinical range and outcomes of cerebral cavernous malformations in pediatric patients: A single center data results

Clinical range and outcomes of cerebral cavernous malformations in pediatric patients: A single center data results

Novel Approach to Temporal Lobectomy for Removal of a Cavernous Hemangioma in a Dog

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

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