Innervation Pattern of Malformative Cortical Vessels in Sturge-Weber Disease: An Histochemical, Immunohistochemical, and Ultrastructural Study

Sá, Manuel Cunha e; Barroso, C; Caldas, M C; Edvinsson, Lars; Gulbenkian, S.

doi:10.1097/00006123-199710000-00020

Cited by 33 publications

(13 citation statements)

References 22 publications

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“…MRI studies of cerebral perfusion performed in small groups of SWS patients demonstrated mostly decreased perfusion in regions with meningeal enhancement [11, 12]; additional perfusion defects were seen in areas of deep venous abnormalities. Based on histological studies, the cortical blood flow reduction was speculated to be secondary to the venous stasis and hypertension due to malformed, cortical vessels as well as venous thrombosis [1, 2, 24, 25]. Nevertheless, a SPECT study found hyper perfused cortex in some infants with SWS even before their first seizures [7].…”

Section: Discussionmentioning

confidence: 99%

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study

Miao¹,

Juhász²,

Wu³

et al. 2011

AJNR Am J Neuroradiol

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Background and Purpose Low brain tissue perfusion due to abnormal venous drainage is thought to be a central mechanism of brain damage in Sturge-Weber syndrome (SWS). In the present study, high-resolution perfusion-weighted imaging (HR-PWI) was used to quantify white matter perfusion abnormalities and correlate these with brain atrophy and clinical variables. Materials and Methods Fourteen children (age: 0.8–10.0 years) with unilateral SWS underwent MRI examinations, including HR-PWI. Relative cerebral blood volume (rCBV), cerebral blood flow (rCBF) and mean transit time (MTT) in the affected white matter (WM) and in contralateral homotopic WM were measured. Asymmetry index (AI) for each perfusion parameter was correlated with age, brain atrophy, motor and seizure variables as well as IQ. Results Increased perfusion was seen in the affected hemisphere in 5 children and decreased perfusion in 9. Brain atrophy was more severe in the low-perfusion group (p=0.01) and was related to both CBF-AI and CBV-AI (r = −0.69, p = 0.007; r = −0.64, p = 0.014, respectively). Older children had lower CBV values on the affected side (r = −0.62, p = 0.02). Longer duration of epilepsy was related to lower CBF (more negative CBF-AI, r=−0.58, p=0.03) and low CBV (r=−0.55, p=0.04) on the affected side. Lower perfusion was associated with more frequent seizures (rCBF-AI: r=−0.56, p=0.04; rCBV-AI: r=−0.63, p=0.02). Conclusion Increased perfusion in the affected cerebral WM may indicate an early stage of SWS without severe brain atrophy. Decreased perfusion is associated with frequent seizures, long duration of epilepsy and brain atrophy.

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Section: Discussionmentioning

confidence: 99%

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study

Miao¹,

Juhász²,

Wu³

et al. 2011

AJNR Am J Neuroradiol

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“…34 Port-wine birthmark blood vessels lack perivascular nerves, 35,36 and SWS cortical vessels are innervated only by noradrenergic sympathetic nerve fibers. 37 Increased endothelin-1 expression was found in SWS vascular malformations. 38 Together these studies suggest that there may be increased vasconstrictive tone in the SWS brain vascular malformation; however, it is not known whether these alterations are pathologic or compensatory.…”

Section: Pathogenesis Of Sturge-weber Syndrome and Neurologic Progresmentioning

confidence: 98%

Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome

2011

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Background Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). Although SWS is a congenital disorder usually presenting in infancy, occasionally neurologic symptoms first present in adulthood and most affected individuals do survive into adulthood with varying degrees of neurologic impairment including epilepsy, hemiparesis, visual field deficits and cognitive impairments ranging from mild learning disabilities to severe deficits. SWS is a multi-system disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmologic, and other medical issues that can arise and impact the neurologic status of these patients. Some of these clinical features have only recently been described. Review Summary This review summarizes the neurologic manifestations of SWS, discusses issues related to the diagnosis of brain involvement, relates major neuroimaging findings, briefly describes the current understanding of pathogenesis, and provides an overview of neurologic treatment strategies. Conclusion Recent clinical research has highlighted several novel and lesser known aspects of this clinical syndrome including endocrine disorders. Functional imaging studies and clinical experience suggests that neurologic progression results primarily from impaired blood flow and that prolonged seizures may contribute to this process. Treatment is largely symptomatic although aggressive efforts to prevent seizures and strokes, in young children especially, may impact outcome.

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“…19 The vasoactive responses to temperature changes or seizures are also abnormal. Ictal spect (blood flow studies) in patients with Sturge-Weber syndrome have shown that during a seizure, blood flow can decrease to ischemic levels.…”

Section: Pathophysiologymentioning

confidence: 99%

Current Therapeutic Options in Sturge-Weber Syndrome

Comi

2015

Seminars in Pediatric Neurology

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Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid “angioma” of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome.

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Innervation Pattern of Malformative Cortical Vessels in Sturge-Weber Disease: An Histochemical, Immunohistochemical, and Ultrastructural Study

Cited by 33 publications

References 22 publications

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study

Clinical Correlates of White Matter Blood Flow Perfusion Changes in Sturge-Weber Syndrome: A Dynamic MR Perfusion-Weighted Imaging Study

Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome

Current Therapeutic Options in Sturge-Weber Syndrome

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