High Prevalence of Bihemispheric Structural and Functional Defects in Sturge-Weber Syndrome

Abstract

Abnormal cerebral venous drainage is associated with hypoxia and glucose deprivation, which can account for progressive neurologic deterioration in Sturge-Weber syndrome. Although developmental delay is common in Sturge-Weber syndrome, bihemispheric calcification is uncommon. Computed tomography (CT) and magnetic resonance imaging (MRI) were used to study the neuroanatomy, while single photon emission computed tomography (SPECT) was used concurrently to evaluate perfusion and glucose metabolism using 99mTc hexamethylpropyleneamine oxime (HMPAO) and [18F] fluorodeoxyglucose (FDG), respectively. Ten patients (10 to 22 years of age) with previously diagnosed Sturge-Weber syndrome, port-wine nevi, and clinical evidence of seizures or stroke-like episodes were studied. Five children with onset of seizures in the first year of life had overall clinical severity comparable to that of children with later-onset seizures. Calcification was present in both hemispheres in one patient; six additional patients had other radiologic evidence of bihemispheric disease; SPECT studies detected bihemispheric disease in four cases. Our study is the first to concurrently evaluate structure, perfusion, and glucose metabolism in Sturge-Weber syndrome and to show a mismatch between functional and structural brain imaging in both cerebral hemispheres. Widespread abnormalities of cerebral perfusion and glucose metabolism might explain the high prevalence of developmental delay associated with Sturge-Weber syndrome. Longitudinal studies are needed to define better the natural history of neurologic deterioration and radiologic progression that relates to central nervous system circulatory dysfunction in Sturge-Weber syndrome.

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge–Weber syndrome brain involvement

“…14 Bilateral cerebral involvement is uncommon. 15-17 Experimental blood flow studies using the 133 Xe single-photon emission computed tomography (SPECT) technique have shown decreased flow in the involved cerebral region, and one blood flow study showed that a seizure can cause a significant reduction of flow in remote, uninvolved cerebral regions, in effect a vascular steal phenomenon. 1 …”

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

“…Nevertheless, it is unclear whether abnormal blood perfusion in the affected WM directly contributes to the clinical features of SWS. Previous functional neuroimaging, such as positron emission tomography (PET) and single photon emission computed tomography (SPECT) studies have found that blood flow deficit in the affected cortical regions was common in SWS, probably contributing to neurologic impairment [7–9]. Recent dynamic contrast enhanced MR perfusion weighted imaging (PWI) studies have also shown similar results [10–12].…”

Spontaneous obliteration of MRI-silent cerebral angiomatosis revealed by CT angiography in a patient with Sturge–Weber syndrome

“…The first cerebral lesion diagnosed in this patient was a small left temporal hemorrhage. Stroke-like episodes [7], deep cerebral venous occlusion [8] and hemiplegic migraine [9] may occur in SWS. Although the most common presentation of arteriovenous malformations of the brain is cerebral hemorrhage [10], intracranial bleeding is not a "major problem" in SWS [1].…”