Original articleMRI with diffusion-weighted imaging in children and young adults with simultaneous supra- and infratentorial manifestations of Sturge-Weber syndromeIRM avec séquences de diffusion chez les enfants et les jeunes adultes présentant des manifestations supra- et infratentorielles simultanées du syndrome de Sturge-Weber
Introduction
Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis is a rare congenital, neurocutaneous disorder characterized by angiomas involving the facial skin, the ocular choroid and the cerebral leptomeninges [1]. Clinical manifestations may include seizures, hemiparesis, glaucoma, homonymous hemianopsia and mental retardation [1], [2], [3]. SWS has an estimated incidence of one in 20–50,000 live births [4]. In most instances SWS appears sporadically but familial cases have also been reported [1].
The major neuropathologic abnormality in SWS is a leptomeningeal angiomatosis that is usually limited to the pia mater [1]. Chronic venous stasis and an impaired arterial blood flow result in a progressive ischemic injury of the subjacent cerebral cortex and white matter with progressive cortical calcifications, atrophy and white matter gliosis [1], [3], [4].
The pathological basis for SWS is believed to occur early in fetal life between the 4th and 8th week of gestation. Failure of the embryonic veins of the brain to develop or coalesce results in a persistence of the precirculatory plexus of primordial venous vessels. The consequent redirection of the blood to the developing leptomeninges result in the typical leptomeningeal angiomatosis [3]. The close association between the ectoderm destined to become the skin of the face and the dorsal telencephalic vesicles programmed to become the occipital and parietotemporal lobes explains the concomitant manifestation of cutaneous facial nevus in the distribution of the trigeminal nerve, choroidal angioma and leptomeningeal angiomatosis centered to the occipital lobes. Consequently, in most children, only the supratentorial brain, in particular the occipital lobe (95%) is affected followed by the parietal (74%) and temporal (63%) lobes [3], [5]. Bilateral supratentorial lesions exist in about 7.5–26% of the patients [3], [5], [6], [7]. Involvement of the cerebellum is reported to be extremely rare. Few recently published articles reported simultaneous supra- and infratentorial involvement in children with SWS [5], [8], [9], [10], [11], [12]. The reported infratentorial abnormalities included cortical calcifications [7], prominent foliaform and vascular enhancement of the cerebellum [8], [9], cerebellar venous angiomas [5], [8], [10], [11], [12] and cerebellar atrophy [8].
Many reports have discussed that the white matter myelination may be affected in children with SWS [13], [14], [15], [16]. The frequently encountered T2-hypointensity of the subcortical white matter underlying the area of leptomeningeal angiomatosis suggests an accelerated myelination [13], [14], [15], [16]. However, the lack of a matching increased T1-hyperintensity makes this unlikely. Increased concentrations of deoxyhemoglobin in the capillaries and veins of the white matter due to chronic venous stasis or an increased mineralization due to chronic venous ischemia have been suggested to explain these findings. Diffusion-weighted imaging (DWI) is an advanced MRI technique that allows to study and quantify the microstructural integrity and maturation of the cerebral gray and white matter [17]. The apparent diffusion coefficient (ADC) which is a measure of the overall magnitude of water diffusion gives information about the progressing white matter myelination in children. Evaluation of the ADC scalars allows the detection and quantification pathology that may go undetected by conventional MRI. A few studies have evaluated the ADC values of brain lesions in SWS [16], [18], [19], [20]. However, none of the studies have focused on the normal appearing white matter (NAWM) in children with SWS.
The goals of our study were to determine:
- (a)
what percentage of children with an established diagnosis of SWS have simultaneous supra- and infratentorial involvement;
- (b)
what kind of infratentorial lesions are seen in these children;
- (c)
the ADC values of normal appearing supra- and infratentorial white matter (NAWM) in these children.
Section snippets
Patient group
A computer-assisted search of all radiological reports for the time period between January 2000 and August 2008 was performed using various key words related to SWS. Inclusion criteria were that the patients should be younger than 21 years of age at the time of imaging, DWI with calculated ADC maps should be available and the diagnosis of SWS should be confirmed by clinical and imaging findings. If the clinical records were unavailable, DWI was missing or of poor quality the patients were
Frequency and imaging findings of simultaneous supra- and infratentorial involvement
Six out of 15 patients (40%) with established diagnosis of SWS had simultaneous supra- and infratentorial involvement. The age range of these patients with simultaneous supra- and infratentorial involvement was 2 years to 21 years with a mean of 9 years. Two of these patients were males and four were females. The findings of these six patients on conventional MRI are shown in Table 1. Supratentorial leptomeningeal angiomatoses was seen bilaterally in two patients, unilaterally, ipsilateral to
Discussion
SWS is a well known neurocutaneous disorder characterized by facial port-wine birthmarks, glaucoma and a pial vascular malformation referred to as leptomeningeal angiomatosis [1]. Clinically, patients present with seizures, cognitive impairment and mental retardation [1], [2], [3]. After onset of symptoms, many of the structural findings can easily be identified with contrast enhanced MRI including the leptomeningeal angiomatosis, focal cortical atrophy, and an enlarged venous plexus on the
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