Natural history of the cavernous angioma

Robinson, John R.; Awad, Issam A.; Little, John R.

doi:10.3171/jns.1991.75.5.0709

Cited by 902 publications

(635 citation statements)

References 29 publications

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“…The majority of CMs come to medical attention after children experience any number of clinical symptoms, and up to 20% are discovered incidentally [19][20][21] . In pediatric patients, CM symptoms in the CNS are mainly present as hemorrhage, seizure, or focal neurological deficits 3 .…”

Section: Discussionmentioning

confidence: 99%

Intracranial cavernous malformation in children: a single-centered experience with 30 consecutive cases

Amato¹,

Madureira²,

Oliveira³

2013

Arq. Neuro-Psiquiatr.

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Objectives: To determine the clinical presentation and treatment outcome of pediatric intracranial cavernous malformation (CM) in a single-centered institution. Methods: Clinical data review of 30 patients under 18 years-old who had undergone surgery for cavernous malformation from January 1993 to December 2011. Results: The Study Group included 18 males and 12 females (mean age: 8.7 years-old). Symptoms at presentation were seizures (16/30, 53.3%), headache (15/30, 50.0%), and focal neurological deficits (11/30, 36.6%). Multiple cavernous malformations were found in 5/30 (16.6%). According to location, patients were classified in groups: (G1) brain-steam in 5/30 (16.6%), (G2) cerebellum in 2/30 (6.6%), (G3) supratentorial associated with seizures in 16/30 (53.3%), and (G4) supratentorial without seizures in 7/30 (23.3%). Surgical resection was performed in 26 out of 30 (86.6%) patients. The mean follow-up period was 4.1 years. Of 15 children followed-up with preoperative seizures, all were rendered seizure-free after surgery. Conclusions: For symptomatic solitary cavernous malformation, the treatment of choice is complete microsurgical excision preceded by careful anatomical and functional evaluation. For multiple cavernous malformation or asymptomatic patients, the treatment modalities must be cautiously considered.

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Section: Discussionmentioning

confidence: 99%

Intracranial cavernous malformation in children: a single-centered experience with 30 consecutive cases

Amato¹,

Madureira²,

Oliveira³

2013

Arq. Neuro-Psiquiatr.

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“…The disease has been recognized as a common clinical entity because of the advent of MRI (2). Both MRI and autopsy studies suggest a prevalence of cavernous malformation up to 0.5%, although only 20-30% of affected individuals develop symptomatic disease (3)(4)(5)(6)(7)(8).…”

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confidence: 99%

KRIT1 , a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

Günel

Laurans

Shin

et al. 2002

Proc. Natl. Acad. Sci. U.S.A.

111

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Mutations in Krev1 interaction trapped gene 1 (KRIT1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures. The biological functions of KRIT1 are unknown. We have investigated KRIT1 expression in endothelial cells by using specific anti-KRIT1 antibodies. By both microscopy and coimmunoprecipitation, we show that KRIT1 colocalizes with microtubules. In interphase cells, KRIT1 is found along the length of microtubules. During metaphase, KRIT1 is located on spindle pole bodies and the mitotic spindle. During late phases of mitosis, KRIT1 localizes in a pattern indicative of association with microtubule plus ends. In anaphase, the plus ends of the interpolar microtubules show strong KRIT1 staining and, in late telophase, KRIT1 stains the midbody remnant most strongly; this is the site of cytokinesis where plus ends of microtubules from dividing cells overlap. These results establish that KRIT1 is a microtubule-associated protein; its location at plus ends in mitosis suggests a possible role in microtubule targeting. These findings, coupled with evidence of interaction of KRIT1 with Krev1 and integrin cytoplasmic domain-associated protein-1 alpha (ICAP1 ␣), suggest that KRIT1 may help determine endothelial cell shape and function in response to cell-cell and cell-matrix interactions by guiding cytoskeletal structure. We propose that the loss of this targeting function leads to abnormal endothelial tube formation, thereby explaining the mechanism of formation of cerebral cavernous malformation (CCM) lesions. C erebral cavernous malformation (CCM) is a disease affecting brain vasculature. Characteristic lesions affect capillaries and have grossly dilated vascular channels lined by only a single layer of endothelium without normal vessel wall elements such as smooth muscle or intervening neural parenchyma (1). The nature of these lesions suggests an abnormality in normal development of these capillaries; however, the mechanism of their occurrence and an explanation for their focal nature have remained elusive.The aberrant channels in CCM lesions are fragile, commonly resulting in intracranial hemorrhage. Clinical signs and symptoms are largely determined by the size and location of the hemorrhage, and range from incidental findings on MRI (Fig. 1) to rare catastrophic cerebral hemorrhage resulting in death. The disease has been recognized as a common clinical entity because of the advent of MRI (2). Both MRI and autopsy studies suggest a prevalence of cavernous malformation up to 0.5%, although only 20-30% of affected individuals develop symptomatic disease (3-8).Symptomatic patients typically present in the third through the fifth decades of life (3) with headaches, seizures, or focal neurological deficits. Treatment ranges from therapy with anti-epileptic drugs in patients with seizures, to surgical excision of accessible lesions in patients who suffer from hemorrhage or intractable seizures (9-13).Si...

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“…2,7,14,20,23,26,31 Across 7 general distribution studies with 656 patients, 125 patients (19%) harbored multiple intracranial CMs. 7,8,14,15,20,23,26 Developmental venous anomalies were seen in 54 (9%) of 593 patients in 6 studies reporting associated vascular malformations. 7,15,20,23,26,31 Table 2 summarizes overall epidemiological, clinical presentation, and hemorrhage rate data.…”

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confidence: 99%

The natural history of intracranial cavernous malformations

Gross

Lin

et al. 2011

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275

236

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Literature reports on the natural history of cerebral cavernous malformations (CMs) are numerous, with considerable variability in lesion epidemiology, hemorrhage rates, and risk factors for hemorrhage. In this review, the authors performed a meta-analysis of 11 natural history studies. The overall male-to-female ratio was 1:1, and the mean age at presentation was 30.6 years. Overall, 37% of patients presented with seizures, 36% with hemorrhage, 23% with headaches, 22% with focal neurological deficits, and 10% were asymptomatic. Some patients had more than one symptom. Seizure presentation was most prevalent among supratentorial CMs, while focal neurological deficits were common in patients with infratentorial CMs. By location, CMs were in the cerebral hemispheres (66%), brainstem (18%), basal ganglia or thalamus (8%), cerebellum (6%), and other (2.5% [combined supra- and infratentorial, callosal or insular]). Overall, 19% of patients harbored multiple intracranial CMs, and 9% had radiographically apparent associated developmental venous anomalies. An overall annual hemorrhage rate of 2.4% per patient-year (range 1.6%–3.1%) was identified across 3 studies. Prior hemorrhage and female sex were risk factors for bleeding, while CM size and multiplicity did not affect hemorrhage rates. Although not impacting the hemorrhage rate itself, deep location was a risk factor for increased clinical aggressiveness.

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Natural history of the cavernous angioma

Cited by 902 publications

References 29 publications

Intracranial cavernous malformation in children: a single-centered experience with 30 consecutive cases

Intracranial cavernous malformation in children: a single-centered experience with 30 consecutive cases

KRIT1 , a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

The natural history of intracranial cavernous malformations

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