Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy

Shih, Yen‐Cheng; Chou, Chien‐Chen; Peng, Syu‐Jyun; Yu, Hsiang‐Yu; Hsu, Sanford P.C.; Lin, Chun‐Fu; Liu, Ping-Chuan; Yang, Huai‐Che; Chen, Yi‐Chieh; Kwan, Shang‐Yeong; Chen, Chien; Wang, Shuu Jiun; Lirng, Jiing‐Feng; Yen, D. H. J.; Liu, Yo‐Tsen

doi:10.1111/epi.17309

Cited by 8 publications

(5 citation statements)

References 30 publications

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“…Among pediatric CCM patients with a symptomatic presentation, multiple studies have demonstrated seizures to be the most common presenting symptom. 25 In this cohort, however, the majority of patients presented with generalized or minor symptoms limited to headaches, dizziness, nausea, or vomiting, with most of these patients predominately or only experiencing headache. In this study, seizures were the second most common presenting symptom.…”

Section: Characteristics Of Presentation and Predictors Of Outcomementioning

confidence: 70%

Clinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes

Jaman,

Abdallah,

Zhang

et al. 2023

Journal of Neurosurgery: Pediatrics

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OBJECTIVE Cerebral cavernous malformation (CCM) is a subtype of the vascular malformations found within the cerebral cortex. Although rare and usually discovered incidentally, these vascular abnormalities can predispose patients to spontaneous cerebral hemorrhage and subsequently lead to a myriad of neurological symptoms at presentation such as seizures and other focal neurological deficits. Although the symptoms and presentations of CCM have been adequately described in the adult population, disease characteristics and outcomes have not been extensively described in the pediatric population. Furthermore, the etiology of CCM—e.g., familial versus sporadic disease, as well as the risk factors for hemorrhage and neurological deficits and predictors of clinical and surgical outcomes—has not been adequately explored in the pediatric population. The current study attempts to classify and characterize differences in the clinical presentation, characteristics, and outcomes of CCMs between familial and sporadic cases within the pediatric population. METHODS A retrospective review identified 131 pediatric patients with radiographically confirmed diagnosis of CCM. All pertinent demographic and clinical variables were collected. CCM lesions were characterized using T2-weighted and susceptibility-weighted angiography (SWAN) MRI. Statistical analysis was conducted using the t-test for continuous variables, whereas categorical variables were analyzed with the Fisher exact test or chi-square test. Multivariate analysis was performed using a Cox proportional hazards model with R version 4.2.0. RESULTS This retrospective study identified 131 pediatric CCM patients with a mean age of 8.4 years, and 54% (n = 71) were male. Twenty-seven percent (n = 35) were identified as cases with familial CCM, with the remainder classified as sporadic. The most common symptoms at presentation included generalized symptoms (headaches, nausea, and vomiting) or seizures, with a large proportion of patients also presenting as asymptomatic. No significant differences were observed in severity of symptoms between patients harboring different forms of the disease. Patients with familial CCM were noted to have a larger lesion size on average (5.26 cm3 vs 1.6 cm3, p = 0.047). These patients also had a shorter progression-free follow-up interval, with 50% of patients showing progression by 888 days, compared with only 15% of sporadic CCM patients during the same period (p = 0.0019). Familial etiology of the disease and larger average lesion volume were independent, significant predictors of disease progression (p = 0.001, HR 3.29, 95% CI 1.65–6.54) and future hemorrhage (p = 0.023, HR 1.1, 95% CI 1.01–1.10), respectively. CONCLUSIONS Familial and sporadic CCMs tend to present with similar characteristics within the pediatric population. Patients with the familial form of the disease have an increased risk of progressive disease in terms of further hemorrhagic events.

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Section: Characteristics Of Presentation and Predictors Of Outcomementioning

confidence: 70%

Clinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes

Jaman,

Abdallah,

Zhang

et al. 2023

Journal of Neurosurgery: Pediatrics

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“…Seizures are the most common clinical symptom of CCM [ 47 ]. Moreover, CCM represents a significant structural etiology of chronic drug-resistant epilepsy.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…The location of CCM is strongly correlated with development of epilepsy. One study demonstrated that 87% of the patients with temporal lobe CCM had epilepsy, with 50% of them experiencing drug-resistant epilepsy, whereas only 15% of those with non-temporal CCM had drug-resistant epilepsy [ 47 ]. The presence of a hemosiderin rim on imaging was identified as an independent risk factor, supporting its role in the epileptogenesis [ 55 ].…”

Section: Clinical Featuresmentioning

confidence: 99%

Clinical Features and Treatment of Pediatric Cerebral Cavernous Malformations

Phi,

Kim

2024

J Korean Neurosurg Soc

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Cerebral cavernous malformation (CCM) is a vascular anomaly commonly found in children and young adults. Common clinical presentations of pediatric patients with CCMs include headache, focal neurological deficits, and seizures. Approximately 40% of pediatric patients are asymptomatic. Understanding the natural history of CCM is crucial and hemorrhagic rates are higher in patients with an initial hemorrhagic presentation, whereas it is low in asymptomatic patients. There is a phenomenon known as temporal clustering in which a higher frequency of symptomatic hemorrhages occurs within a few years following the initial hemorrhagic event. Surgical resection remains the mainstay of treatment for pediatric CCMs. Excision of a hemosiderin-laden rim is controversial regarding its impact on epilepsy outcomes. Stereotactic radiosurgery is an alternative treatment, especially for deepseated CCMs, but its true efficacy needs to be verified in a clinical trial.

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“…It should be noted that about 64% of patients with CRE still develop DRE after reasonable anti-seizure medications [9]. Recent studies indicated that temporal lobe CCM lesion is also a major risk factor for the development of CCM-related DRE [9,34]. Considering that the clinical course of epilepsy is negatively correlated with the prognosis of CRE surgery [9,35,36], and early surgical intervention could provide a good seizure outcome for CCM-related DRE [9], it is necessary to perform early pre-surgical evaluations for CRE patients, especially CCM-related DRE patients and CRE patients with lesions located in the temporal lobe [9,34].…”

Section: Imaging Features Of Ccm Lesions In Cre Patientsmentioning

confidence: 99%

Clinical characteristics and risk factors of cerebral cavernous malformation-related epilepsy

Zhang

Shi

et al. 2023

Epilepsy & Behavior

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Clinical characteristics and long‐term outcome of cerebral cavernous malformations‐related epilepsy

Cited by 8 publications

References 30 publications

Clinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes

Clinical characteristics of familial and sporadic pediatric cerebral cavernous malformations and outcomes

Clinical Features and Treatment of Pediatric Cerebral Cavernous Malformations

Clinical characteristics and risk factors of cerebral cavernous malformation-related epilepsy

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