Handbook of Clinical Neurology, Vol.

111 (3rd series)

Pediatric Neurology Part I
O. Dulac, M. Lassonde, and H.B. Sarnat, Editors
© 2013 Elsevier B.V. All rights reserved

Chapter 37

Sturge–Weber syndrome
R. NABBOUT 1* AND C. JUHÁSZ 2
1
Department of Pediatric Neurology, Hôpital Necker-Enfants Malades; Centre de rfrence pilepsies rares;
INSERM U663, Paris, France
2
Children’s Hospital of Michigan and Departments of Pediatrics and Neurology, Wayne State University
School of Medicine, Detroit, MI, USA

INTRODUCTION et al., 1989). The embryological vascular abnormality af-

Sturge Weber syndrome (SWS) is a rare sporadic and
congenital neurocutaneous syndrome defined by the asso-
ciation of a facial capillary malformation (port-wine
stain) in the ophthalmic distribution of the trigeminal
nerve, with ipsilateral vascular glaucoma and vascular
malformation of the eye, and vascular malformation of
the brain (leptomeningeal angioma). Variants exist where
only one of these three structures is involved with the
vascular malformation. Roach classified SWS patients
into three types: type 1 associates facial angioma and pial
angioma with inconstant ophthalmological involvement,
type 2 associates facial angioma without pial angioma
with inconstant ophthalmological signs, and finally type
3 with isolated pial angioma (Roach, 1992).
EPIDEMIOLOGY
SWS is rare and affects equally both sexes without racial
bias. Although no good population-based data exist for
prevalence of Sturge Weber syndrome, it might be
estimated to range between one in 20 000 to 50 000 live
births. Facial port-wine stains occur in 3 per 1000 live
births, only 10 20% of whom present with glaucoma
or leptomeningeal angioma. When the angioma affects
the trigeminal V1 area bilaterally, this risk increases up
to 35% (Enjolras et al., 1985).
PATHOPHYSIOLOGY
The angioma found in SWS likely results from an early
embryological malformation of the vascular system with
a failure of the primitive cephalous venous plexus to re-
gress and properly mature in the first trimester (Maiuri
fects the development of the nearby skin, eye, and brain
structures. The embryological proximity at this stage of
the ectoderm that will form the upper portion of the facial
skin to the neural tube, which will form the parietal occip-
ital areas of the brain, could explain the involvement of
the trigeminal area of the skin and the parietal occipital
leptomeningeal angioma (Comi, 2003).
A somatic mutation involving the embryological
precursor of these tissues has been suggested as a possible
mechanism. This genetic hypothesis is based on three ob-
servations: (1) the identification of an increased gene
expresssion for fibronectin, hypothesizing a possible muta-
tion in this gene, (2) some reported chromosomal abnor-
malities as paracentric inversion or chromosome 10
trisomy in fibroblasts from affected skin areas, and (3)
the occurrence of a few familial cases with a possible link-
age to a locus on 5q11-23 with interesting candidate genes
involved in vasculogenesis and neurogenesis (Comi, 2003).
NEUROPATHOLOGY
Brain angiomas are usually ipsilateral to the skin angioma
and are predominant in the occipital region with some
extension to temporal and parietal areas. Brain angiomas
are unilateral in about 85% of the cases but they can be
bilateral even when the skin angioma is unilateral
(Roach and Bodensteiner, 1999). Histological studies in
SWS brain angioma showed dilated and tortuous pial ves-
sels with frequent dilatation of the deep venous collecting
system, mainly involving the radial system and choroid
plexus. The abnormal venous drainage in cerebral cortex
adjacent to the angioma induces a venous ischemia with a
consequent decrease in the arterial flow and possible brain

*Correspondence to: Rima Nabbout, Neuropédiatrie, Hôpital Necker, 149 rue de Sèvres, 75015 Paris, France. Tel: 003344381536,
Fax: 0033 142192692, E-mail: rimanabbout@yahoo.com
316 R. NABBOUT AND C. JUHÁSZ
atrophy (Lin et al., 2006). Early SPECT studies showed a
decreased blood brain perfusion during the first year of
life (Adamsbaum et al., 1996). Seizures increase metabolic
needs of proximal brain tissue and worsen the venous
ischemia. The atrophy of the brain tissue in regard to
the leptomeningeal angioma is thought to be caused by
venous stasis and repetitive episodes of seizures.
Microscopic study of the underlying brain tissue
shows neuronal loss, gliosis, cortical dysgenesis, and cal-
cifications. Cortical vessels are increased in number, thin
walled, and dilated with gliosis and subendothelial
proliferation.
Brain calcifications in SWS are variable. They are
deposited near the parenchymal vessels and the cortical
and subcortical layers. Calcification might result from
the anoxic insult of endothelial and perithelial cells in
addition to the increased blood brain barrier permeabil-
ity. The disruption of this barrier is suggested by the
contrast enhancement on brain imaging and by the
important dilatation of the venous system.
The endothelial layer of blood vessels in SWS shows
increased proliferation and apoptosis (Comati et al.,
2007). An increased expression of some vascular growth
factors such as fibronectin and vascular endothelial
growth factor and its receptor (VEGF and VEGF-
receptor) suggests a continuous and dynamic remodel- Fig. 37.1. Port-wine stain angioma in the ophthalmic distribu-
tion of the trigeminal nerve. Cutaneous angioma.
ing vascular process and not a static lesion. Finally, an
abnormal innervation of the blood vessels in addition
to previous data suggests that structure and function
of these blood vessels are altered in SWS.
Neurological signs
The prognosis for SWS is related to the severity of neu-
CLINICAL PRESENTATION rological signs that are absent at birth and develop later
Skin angioma in life. They include epilepsy, focal neurological deficit
as hemianopsia and hemiplegia, and a mental delay. Sei-
SWS is suspected at birth in the presence of facial angioma zures are usually the presenting neurological symptom
in the trigeminal nerve area. This angioma is also called fa- and are related to the leptomeningeal angioma localized
cial port-wine stain or facial nevus. It consists of dilated in most patients in posterior occipital regions. Epilepsy
and tortuous venous capillaries in the dermis (Fig. 37.1). occurs in 75 to 85% of patients and 75% of the seizures
The involvement of the upper eyelid and of the front (ter- appear within the first year of life (Sujansky and
ritory of the first branch of trigeminal nerve, V1) increases Conradi, 1995b). In a few patients, leptomeningeal angi-
the incidence of the pial angioma. Facial angioma is usually oma is more anterior and the onset of neurological signs
unilateral (63% of cases) but might be bilateral and involve is postponed to the second decade (Comi, 2003). Status
the whole face (17%). Skin angioma could encompass the epilepticus might inaugurate the epilepsy and remains
2nd and 3rd branches of the trigeminal nerve (V2 and V3). frequent in infancy (Fig. 37.2). The majority of seizures
It might extend in a few patients to the thorax, abdomen, are focal with motor features contralateral to leptome-
and upper and lower limbs giving a Klippel-Trénaunay ningeal angioma. However, other seizure types have
syndrome, where associated limb enlargement due to bone been described, including infantile spasms (Miyama
and soft tissue hypertrophy is also common. The conjunc- and Goto, 2004). A clustering pattern of seizures fol-
tiva and the other mucous membranes of the facial area lowed by prolonged seizure-free periods was reported
might be involved with mouth, pharynx, or nasal angio- to be common (in about 40% of affected children with
mas. An excessive growth of the ipsilateral maxilla might SWS), but was not associated with worse prognosis
induce a stomatological problem with facial asymmetry (Kossoff et al., 2009). This clustering seizure pattern
and an abnormal dental occlusion. may make it difficult to assess seizure frequency.
 STURGE–WEBER SYNDROME
3 6 9 12 15 18 21 24 27 30 months
Fig. 37.2. Seizures in SWS. First seizure evolves frequently in
status epilepticus (blank circles) followed by a transitory ipsilat-
eral motor deficit (filled triangles) or definitive motor loss
(arrows). Focal seizures appear a few months later (filled circles).
Every horizontal line represents a patient. Some patients might
present isolated episodes of unilateral hemiplegia without
seizures (double arrows).
Cortical dysgenesis is reported in few cases and could
increase the epileptogenetic potential of the pial angioma
(Comi, 2003).
The ipsilateral cortical atrophy often leads to contra-
lateral spastic hemiplegia and hemianopsia. The latter is
difficult to diagnose at a young age although parents
might report head turn as an early sign of a visual field
cut. About 83% of patients with SWS present with
cognitive problems (Sujansky and Conradi, 1995a).
Psychomotor delay is variable and seems related to the
young age of epilepsy onset and to epilepsy severity
(Ville et al., 2002). Two-thirds of the patients exhibit
psychomotor delay in infancy and about 50% are signif-
icantly mentally retarded later in childhood. The factors
that contribute most to the presence of psychomotor
delay and its severity are bilaterality of the cerebral
lesions, the degree of cerebral atrophy, intractability
of the seizure disorder, early onset of seizures, and
the presence of multiple seizure types (Bebin and
Gomez, 1988). Headaches and migraines are also
common in SWS (Lisotto et al., 2004; Taddeucci et al.,
2005). A survey study of 68 individuals with SWS and
both headaches and seizures indicated that the median
age of onset was 8 years, that headaches were often a
greater concern than seizures after the first years of life,
and that headache frequency was higher in patients
reporting stroke-like symptoms (Kossoff et al., 2005).
Migraine in SWS may result from an increased
vasogenic leakage of plasma and neuropeptides into
the subarachnoid space (Iizuka et al., 2004).
317
Ophthalmological signs
Ocular involvement may include eyelid hemangioma,
glaucoma, conjunctival and episcleral hemangiomas,
diffuse choroidal hemangiomas, and heterochromia of
the irides. Tortuous retinal vessels with occasional arte-
riovenous communications may be found. Thirty to 70%
of patients with SWS will develop glaucoma. Glaucoma
is almost always unilateral and ipsilateral to the port-
wine stain, although contralateral or bilateral glaucoma
with unilateral cutaneous lesions have been reported.
It occurs especially when the facial skin changes involve
the upper and lower eyelids. Diffuse choroidal hemangi-
oma is present in as many as 40 50% of patients. The
choroidal angiomatosis grows slowly and usually
remains asymptomatic in childhood. During adolescence
or adulthood, marked thickening of the choroid some-
times becomes evident with secondary changes to over-
lying ocular structures. As soon as SWS is first suspected
or documented, a complete ophthalmological evaluation
is essential to rule out ophthalmological involvement,
mainly glaucoma, since the infant’s eye might be quickly
damaged resulting in a decrease in visual function: my-
opia, anisometropia, amblyopia, strabismus, visual field
defects, degenerative changes in the retina and retinal
detachment, and finally the most severe visual loss.
DIAGNOSIS
Diagnosis of SWS is suspected at birth in the presence of
an angioma in the territory of the trigeminal nerve. Neu-
roimaging before or after seizure onset, usually during
the first year of life, can confirm the involvement of the
central nervous system by showing the pial angioma.
MRI with gadolinium injection is superior to CT scan
and is today the technique of choice in detecting the mal-
formations affecting the central nervous system in SWS.
However, even gadolinium-enhanced MRI may be occa-
sionally negative during the first few months of life
despite subsequent demonstration of radiological signs
of SWS (see below).
MRI shows abnormal venous drainage and abnormal
pial contrast enhancement, associated with the SWS lep-
tomeningeal angioma. It can also demonstrate cerebral
volume reduction and ipsilateral choroid plexus enlarge-
ment (Fig. 37.3). In addition, intravenous contrast can
demonstrate the curvilinear posterior contrast enhance-
ment of ocular choroidal angiomas.
CT scan is superior to conventional MRI in detecting
the characteristic double-lined gyriform pattern of calci-
fications paralleling cerebral convolutions referred to by
radiologists as the railroad track sign. These calcifica-
tions usually are not detectable early in life and may
318 R. NABBOUT AND C. JUHÁSZ

Fig. 37.3. (A, B) Posterior right pial angioma on T1- and T2-weighted MRI without gadolinium injection. Cortical and subcortical
atrophy is present.

Fig. 37.4. Detection of deep transmedullary veins by MRI. Comparison of T1-weighted gadolinium-enhanced MRI (A) and native
(precontrast) SWI images (B: SWI magnitude, C: SWI phase images) in an 11-year-old girl with SWS and right hemispheric in-
volvement. The T1-weighted image showed a small posterior pial angioma and a few central transmedullary veins (arrows) as well
as a dilated vein in the anterior horn of the lateral ventricle on the right side. SWI images showed a dense network of transmedullary
and deep veins (circled area) in the same region.

not be seen for several years. In addition to calcifica-
tions, contrast-enhanced CT scan may show brain atro-
phy, ipsilateral choroid plexus enlargement, abnormal
draining veins, and a breakdown of the blood brain
barrier with seizures.
Leptomeningeal angioma is difficult to visualize dur-
ing the first year of life, but MRI with T2 sequences might
detect a signal inversion of the white matter: hyposignal on
T2 and hypersignal on T1 (Jacoby et al., 1987). In a personal
series of neonates with angioma of the V1 followed pro-
spectively, two MRIs were performed during the
follow-up: the first under 6 months of age and the second
after the age of 1 year. In 92% of patients who developed
later pial angioma, T2 hyposignal in the region of the
subsequently visualized angioma was found on the early
scan. The other direct or indirect signs of a leptomeningeal
angioma were absent on these early MRIs (Nabbout et al.,
unpublished data).
Other reports suggest that postcontrast fluid-
attenuated inversion recovery (FLAIR) imaging
(Griffiths et al., 2003) and high-resolution blood oxygen
level dependent (BOLD) magnetic resonance venography
may be more sensitive for detecting the leptomeningeal
angioma or dilated deep veins (Mentzel et al., 2005). This
latter technique is also called susceptibility weighted
imaging (SWI), an MRI technique with an exquisite
sensitivity to the venous vasculature by detecting deoxy-
genated blood in small veins without contrast administra-
tion. SWI can also detect brain calcium and iron deposits
and has superior sensitivity to conventional T1-weighted
gadolinium-enhanced MRI by showing fine details of
deep transmedullary and periventricular veins (Fig. 37.4)
 STURGE–WEBER SYNDROME
as well as calcified gyriform abnormalities in SWS (Hu
et al., 2008). Diffusion MRI has been reported to show
restricted diffusion and high apparent diffusion coeffi-
cient values, consistent with increased motion of water
molecules in the affected brain region (Cakirer et al.,
2005). Diffusion abnormalities can be present outside
the region of the angioma in normal appearing white
matter and can be related to neurocognitive deficits
(Juhász et al., 2007a). Perfusion imaging after onset of
symptoms demonstrates an impaired venous phase in
the region of the angioma that predominates over im-
paired arterial perfusion in the same area (Lin et al., 2003).
In addition to structural neuroimaging, functional
imaging using positron emission tomography (PET) or
ictal single photon emission computed tomography
(SPECT) can be particularly useful to demonstrate po-
tentially epileptogenic cortex in SWS patients with
intractable epilepsy, who are considered for resective
surgery. Fluorodeoxyglucose (FDG) PET often shows
cortical hypometabolism extending beyond apparent
structural abnormalities (Chugani et al., 1989; Juhász
et al., 2007b) and shows the severity of functional brain
involvement (Fig. 37.5). This information can be useful
when designing cortical resection. A longitudinal FDG
PET study also demonstrated that cortical metabolic pro-
gression in SWS is most likely to occur during the first
3 4 years of life, suggesting an optimal time window
when aggressive treatment may have the best chance
to halt neurocognitive decline (Juhász et al., 2007b).
Interestingly, some children with unilateral SWS and
early, severe hemispheric involvement, as shown by
PET, show paradoxically preserved cognitive functions
(Lee et al., 2001; Behen et al., 2011) (Fig. 37.6). This sug-
gests that early, rapid unilateral hemispheric progression
Fig. 37.5. T1-weighted, gadolinium-enhanced MRI and FDG
PET images of a child with SWS and left hemispheric involve-
ment. On the MRI, leptomeningeal angioma is seen overlying
the left posterior cortex (arrows). The same cortical region is
severely hypometabolic on FDG PET; however, moderate
hypometabolism also extends into the left frontal cortex.
A large frontal draining vein and enlarged choroid plexus
are also seen on the MRI.
319
Fig. 37.6. Severe left hemispheric hypometabolism in a 3.5-
year-old child with SWS. Despite extensive left hemispheric
damage, this child had normal verbal IQ (94), suggesting effec-
tive functional reorganization in the right hemisphere.
may induce effective reorganizational processes in the
contralateral hemisphere in these children. If seizures be-
come controlled, such patients can have a relatively good
neuro-cognitive outcome without surgery. In patients
with bilateral leptomeningeal angioma, bifrontal glucose
hypometabolism on PET is a poor prognostic sign
regarding severe developmental impairment (Alkonyi
et al., 2011).
In summary, MRI with gadolinium enhancement and
pondered T1, T2 and FLAIR sequences is to date the
technique of choice to diagnose leptomeningeal angioma
in SWS, even before the development of neurological
signs. Addition of SWI and diffusion MRI can enhance
the sensitivity of MRI to detect small venous abnormal-
ities and microstuctural white matter changes not
detected by conventional MRI sequences in young chil-
dren with SWS. CT with contrast injection is to be done
first in emergency settings after a first seizure in a child
with angioma of the V1 territory. Functional imaging
with FDG PET is helpful to evaluate brain dysfunction
extending beyond apparent structural abnormalities
and can provide important localizing information during
presurgical evaluation in those with intractable epilepsy.
Multimodality imaging, applying advanced MRI tech-
niques combined with functional neuroimaging, can pro-
vide a comprehensive and detailed picture of the extent
and severity of brain abnormalities in children with SWS.
TREATMENT
Treatment of patients with SWS includes anticonvul-
sants for seizure control, symptomatic and prophylactic
therapy for headache, glaucoma treatment to reduce the
intraocular pressure (IOP), and later possible laser ther-
apy for skin angioma.
Prognosis of SWS with leptomeningeal angioma is,
however, related to the neurological complications, but
there are a few studies dedicated to evaluating
approaches to their management.
320 R. NABBOUT AND C. JUHÁSZ
Based on functional neuroimaging and neuropatho-
logical findings, the development of impaired blood
flow to the brain appears to be at the heart of the neuro-
logical symptoms and deterioration in SWS. Impaired
venous drainage results in impaired arterial blood flow
to the affected brain regions and complicated migraines,
stroke-like episodes. Seizures, mainly status epilepticus
in early stages, may further exacerbate ischemic and
metabolic compromise of brain tissue resulting in
further injury, accelerating brain atrophy, and neurolog-
ical decline. Therefore, a stroke-preventative approach
and antiepileptic treatment aimed to prevent seizures
seems today the golden standard therapy for SWS with
leptomeningeal angioma. One study suggested that low-
dose aspirin may reduce the frequency of stroke-like
episodes with SWS (Maria et al., 1998). We advise the
avoidance of precipitating factors such as dehydration
and fever.
Preventive presymptomatic treatment with antiepilep-
tic drugs is often recommended although this approach
was suggested to be helpful only with phenobarbital in
a small case-controlled prospective study, and there are
no available data on the long-term outcome of this preven-
tive approach (Ville et al., 2002). Earlier brain imaging
signs could help to decide which patients are at risk of
developing leptomeningeal angioma and how to treat
them. A larger multicentric randomized prospective trial
is needed before this approach can be generally recom-
mended. However, parents are trained to use intrarectal
diazepam or equivalent emergency rescue benzodiaze-
pines in case of seizures.
After the first seizure, antiepileptic treatment must be
aggressive and well conducted. Seizures are mainly focal,
and antiepileptic drugs (AEDs) such as valproate, carba-
mazepine, or oxcarbamazepine can be proposed. Vigaba-
trin showed good result in this context and is easier to
administer and monitor at this age, but its use is limited
because of the visual field restriction complication. AEDs
that enhance GABA action could be started first, since a
recent in vitro study on the properties of neurons from
human pediatric SWS cortex showed that GABA plays
mainly an inhibitory and anticonvulsive role in SWS
(Tyzio et al., 2009).
Data regarding the efficacy of the newer anticonvul-
sant medications in SWS are scarce. Seizures are resistant
to AEDs in almost half of patients. In those with intracta-
ble epilepsy, particularly those with significant hemipar-
esis and mental retardation, hemispherectomy, surgical
lobectomy, transection of the corpus callosum, or hemi-
spherotomy should be considered. A survey on the results
of 32 worldwide hemispherectomies found that children
undergoing hemispherectomy presented at a young age
and had frequent seizures for approximately 1 year, but
81% were seizure free after surgery. Motor function
did not worsen and age at surgery did not have an adverse
effect on either seizure or cognitive outcomes (Kossoff
et al., 2002). A recent study suggested that medically in-
tractable epilepsy in SWS can be treated effectively by
surgery in children. The degree of resection or disconnec-
tion of diseased tissue, but not patient age at the time of
surgery, seems to be an important factor in achieving
epilepsy control. Unsurprisingly, early surgery is more
likely to improve developmental outcome (Bourgeois
et al., 2007). Most authors recommend surgery only for
patients that have failed multiple courses of antiepileptic
medication, or who have progressive developmental
decline. An earlier indication could be proposed after first
year status epilepticus when epilepsy is very frequently
intractable.
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