Familial cavernous angiomas of the brain in an Hispanic family

Mason, Ivor; Aase, Jon M.; Orrison, William W.; Wicks, Jeffrey D.; Seigel, Robert; Bicknell, Joseph M.

doi:10.1212/wnl.38.2.324

Cited by 73 publications

(24 citation statements)

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“…They documented autosomal dominant inheritance with variable expressivity. This report was followed by the studies of Rigamonti et al 47 and Mason et al 36 who found that familial inheritance was especially high in Hispanic-American families.…”

Section: Risk Factors That Increase Hemorrhage Riskmentioning

confidence: 81%

Update on the natural history of cavernous malformations and factors predicting aggressive clinical presentation

Washington¹,

McCoy²,

Zipfel

2010

FOC

137

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Cavernous malformations (CMs) are angiographically occult, low-pressure neurovascular lesions with distinct imaging and clinical characteristics. They present with seizure, neurological compromise due to lesion hemorrhage or expansion, or as incidental findings on neuroimaging studies. Treatment options include conservative therapy, medical management of seizures, surgical intervention for lesion resection, and in select cases stereotactic radiosurgery. Optimal management requires a thorough understanding of the natural history of CMs including consideration of issues such as mode of presentation, lesion location, and genetics that may impact the associated neurological risk. Over the past 2 decades, multiple studies have been published, shedding valuable light on the clinical characteristics and natural history of these malformations. The purpose of this review is to provide the reader with a concise consolidation of this published material such that they may better understand the risks associated with CMs and their implications on patient treatment.

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Section: Risk Factors That Increase Hemorrhage Riskmentioning

confidence: 81%

Update on the natural history of cavernous malformations and factors predicting aggressive clinical presentation

Washington¹,

McCoy²,

Zipfel

2010

FOC

137

View full text Add to dashboard Cite

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“…Not all CCM are associated with symptoms, but once they become symptomatic 40 to 50 percent present with seizures, 20 percent with focal neurological deficit, and 9-10 percent with hemorrhage [1,2] . The risk of hemorrhage has been estimated between 0.2and 2.5% per lesion per year [3] . These number may be higher for patients with brain stem CCM [4] and the symptoms may worse when it occurs.…”

Section: Resultsmentioning

confidence: 99%

“…Most of the lesions are supratentorial in location.However,in 10-25% are infratentorial(the cerebellum or brain stem). According to the MRI study of autopsied cases, cavernoma exists in 0.4-0.7% of all subjects .They are often found in 3-5 decades and multiple CCMs are seen about 15-50% (up to 80% of affected family members) of patients [3,5] . Familial form is inheritated as an autosomal dominant trait with variable expression.…”

Section: Resultsmentioning

confidence: 99%

The MRI Imaging of Cerebral Cavernous Malformation With Practical Use of Diffusion Weighted Image

Kazawa¹,

Shibamoto

2015

International Journal of Radiology

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AIM:To evaluate the significance of diffusion weighted image(DWI) of the cerebral cavernous malformation in clinical practice. MATERIALS AND METHODS: Thirty patients with 66 lesions (multiple 5 cases) were included in this study. The signal, configuration, anatomical location, size, and the number on each T1WI, T2WI, FLAIR, T2WI*, DWI, Gd (gadolinium)-T1WI,and the sequential signal change of DWI(central and peripheral area in cavernoma)were recorded. RESULTS: The cerebral cavernous malformation (CCM) shows the signal of various phase of hematoma (hemorrhage)on both T1WI and T2WI MRI. On the diffusion weighted imaging (DWI), they showed the marked low (43.3%)and mixed high and low signal intensity (33.3%)even if they were very small appearing as areas of decreased signal (black dots) on T2WI.The low intense signal area on DWI assumed to reflect the hemosiderin or susceptibility effect and blood oxygen level dependent (BOLD)effect by the deoxyhemoglobin and T2 black out effect. The transient high signal foci on DWI were observed in 2(6.7%) cases in whom the intratumoral (re)hemorrhage were suspected. CONCLUSIONS: The CCM tends to exhibit almost low signal intensity on DWI.DWI is a useful method like T2*WI and SWI for the detection of the tiny CCM.

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“…For instance, in the late eighties, familial cavernous malformations were reported to be more common among "Hispanics." 34,35 However, more precise research showed linkage of these cavernous malformations to chromosome 7q11-22 in 4 unrelated Mexican families that might share a common ancestor in Sonora County, Mexico. 36 We now also know that "white" 37 and "Italian-American" 38 families with cavernous malformations may show the same or other linkages, for example, to chromosomes 7p13-15 and 3q25.2-27.…”

mentioning

confidence: 99%