Microgyria associated with Sturge-Weber angiomatosis

Simonati, Alessandro; Colamaria, V.; Bricolo, Albino; Bernardina, Bernardo Dalla; Rizzuto, N.

doi:10.1007/bf00335129

Cited by 31 publications

(31 citation statements)

References 8 publications

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“…For instance, a causative role of venous abnormalities has been suggested in patients with Sturge-Weber syndrome and polymicrogyria in the region underlying pial angiomatosis. 38,51,52 One hypothesis concerning the cause of Sturge-Weber is that leptomeningeal vascular dysplasia leads to impaired perfusion, especially in regard to microvenular drainage, which produces blood stasis with progressive hypoperfusion and ischemia. 53 Alternatively, cortical dysgenesis could result from the abnormal expression of a factor playing a role in both vascular and cortical development.…”

Section: Discussionmentioning

confidence: 99%

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy

Ciantis

Barkovich

Cosottini

et al. 2014

AJNR Am J Neuroradiol

101

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BACKGROUND AND PURPOSE Polymicrogyria is a malformation of cortical development that is often identified in children with epilepsy or delayed development. We investigated in vivo the potential of 7T imaging in characterizing polymicrogyria to determine whether additional features could be identified. MATERIALS AND METHODS Ten adult patients with polymicrogyria previously diagnosed by using 3T MR imaging underwent additional imaging at 7T. We assessed polymicrogyria according to topographic pattern, extent, symmetry, and morphology. Additional imaging sequences at 7T included 3D T2* susceptibility-weighted angiography and 2D tissue border enhancement FSE inversion recovery. Minimum intensity projections were used to assess the potential of the susceptibility-weighted angiography sequence for depiction of cerebral veins. RESULTS At 7T, we observed perisylvian polymicrogyria that was bilateral in 6 patients, unilateral in 3, and diffuse in 1. Four of the 6 bilateral abnormalities had been considered unilateral at 3T. While 3T imaging revealed 2 morphologic categories (coarse, delicate), 7T susceptibility-weighted angiography images disclosed a uniform ribbonlike pattern. Susceptibility-weighted angiography revealed numerous dilated superficial veins in all polymicrogyric areas. Tissue border enhancement imaging depicted a hypointense line corresponding to the gray-white interface, providing a high definition of the borders and, thereby, improving detection of the polymicrogyric cortex. CONCLUSIONS 7T imaging reveals more anatomic details of polymicrogyria compared with 3T conventional sequences, with potential implications for diagnosis, genetic studies, and surgical treatment of associated epilepsy. Abnormalities of cortical veins may suggest a role for vascular dysgenesis in pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy

Ciantis

Barkovich

Cosottini

et al. 2014

AJNR Am J Neuroradiol

101

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“…The recurrent seizures and the epilepsy associated comorbidities such as cognition deficits are the main clinical presentation [54,55]. The epilepsy is often pharmacoresistant when the seizures onset appears at younger age in patients with SWS [56]. Neuroimaging hallmark is that Gadolinium-enhanced MRI and CT scan typically shows leptomeningeal enhancement in all cases (Figure 4B-4D) [22].…”

Section: Overexpression Of Adk In Swsmentioning

confidence: 99%

Adenosine Kinase, a Common Pathologic Biomarker for Human Pharmacoresistant Epilepsy

chen¹,

He²,

Li³

2018

Neuropsychiatry

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Adenosine kinase (ADK) is the chief adenosine removing enzyme in the brain. Experimental research has highlighted that ADK is a diagnostic and a therapeutic marker for epilepsy. Clinical research from patients with pharmacoresistant epilepsy also indicated that maladaptive changes of ADK lead to recurrent seizures in human chronic epilepsy, including Rasmussen encephalitis, focal cortical dysplasia, mesial temporal lobe epilepsy and Sturge-Weber syndrome. In addition, a subpopulation of remaining neurons demonstrated a revertant fetal expression pattern within the lesions are increasing, indicating that the early stage of developmental microenvironment alteration may impair the temporal transient expression pattern of neuronal ADK from fetal to postnatal brains. Increasing levels of ADK expression and adenosine deficiency caused by high levels of ADK played a crucial role in pharmacoresistant epilepsy and epilepsy associated comorbidities. Dysfunction of adenosine system may be a common pathologic hallmark of human pharmacoresistant epilepsy, which suggested the specific targets in the treatment of epilepsy, comorbidities associated with epilepsy in the patients. Future studies will undoubtedly seek to find the novel therapies targeting on ADK and to uncover the mechanism responsible for these future epilepsy therapies.

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“…The underlying brain tissue may be atrophic and display neuronal loss, astrogliosis, dysgenic cortex, and calcification in the cortical layers (6). The cortical vessels underlying the meningeal angioma are thin-walled, narrowed by hyalinization and subendothelial proliferation (3,7), and increased in number (8).…”

mentioning

confidence: 99%

Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue

et al. 2003

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Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that presents with a facial port-wine stain and a leptomeningeal angioma. Fibronectin expression regulates angiogenesis and vasculogenesis and participates in brain tissue responses to ischemia and seizures. We therefore hypothesized that abnormal gene expression of fibronectin and other extracellular matrix genes would be found in SWS brain tissue and SWS port-wine skin fibroblasts. Fibronectin gene and protein expression from port-wine-derived fibroblasts were compared with that from normal skin-derived fibroblasts of four individuals with SWS using microarrays, reverse transcriptase-PCR, Western analysis, and immunocytochemistry. Fibronectin gene and/or protein expression from eight SWS surgical brain samples was compared with that in two surgical epilepsy brain samples and six postmortem brain samples using microarrays, reverse transcriptase-PCR, and Western analysis. The gene expression of fibronectin was significantly increased (p Ͻ 0.05) in the SWS port-wine-derived fibroblasts compared with that of fibroblasts from SWS normal skin. A trend for increased protein levels of fibronectin in port-wine fibroblasts was found by Western analysis. No difference in the pattern of fibronectin staining was detected. The gene expression of fibronectin was significantly increased (p Ͻ 0.05), and a trend for increased fibronectin protein expression was found in the SWS surgical brain samples compared with the postmortem controls. These results suggest a potential role for fibronectin in the pathogenesis of SWS and in the brain's response to chronic ischemic injury in SWS. The reproducible differences in fibronectin gene expression between the SWS port-wine-derived fibroblasts and the SWS normal skin-derived fibroblasts are consistent with the presence of a hypothesized somatic mutation underlying SWS. Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a facial port-wine stain, in the ophthalmic distribution of the trigeminal nerve, associated with an ipsilateral leptomeningeal angioma. Children and adults with SWS often develop progressive neurologic problems, including difficult-to-control seizures, migraines, stroke-like episodes, mental retardation, and hemiparesis. Treatment for SWS is largely symptomatic and directed at the control of seizures with anticonvulsants or surgery (1, 2). SWS occurs almost entirely sporadically and with equal frequency in the sexes (3). The genetic or environmental/ prenatal factors resulting in the disorder are not known. The localized abnormalities of blood vessel development and function affecting the facial skin, eye, and brain suggests a developmental disruption that occurs in the first trimester of pregnancy (4). Somatic mutation has been cited as the probable cause of SWS, given the localized, asymmetric abnormality of blood vessel formation (5). However, the putative mutation is unknown, and other molecular mechanisms are possible. No animal model for SWS exists at this time.Histologic s...

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Microgyria associated with Sturge-Weber angiomatosis

Cited by 31 publications

References 8 publications

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy

Adenosine Kinase, a Common Pathologic Biomarker for Human Pharmacoresistant Epilepsy

Increased Fibronectin Expression in Sturge-Weber Syndrome Fibroblasts and Brain Tissue

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