-

Short communication

220

Sturge-Weber Syndrome Without Facial Nevus
By I. ~ascual-~asfroviejo~,
S . 4 . ~ascual-~ascual~,
1. Viaiid, V. ~ a r t i n e zand
~ J. coya3
'Service of Pediatric Neurology, Hospital Infantsl "La Paz", Madrid, 'unity of Imaging, Sanatoria Nuestra %era del Rosario, Madrid,
3 ~ e ~ of
c Nuclear
e
Medicine, Hospital "La Paz", Madrid, Spain

Case remrt

A patient with Sturge-Weber syndrome
without the characteristic facial nevus presented with focal
seizures which were difficult to control and borderline
mental level. CT disclosed calcification in the right occipital
zone. A marked decrease of the regional cerebral blood flow
that extended beyond the abnormalities depicted on CTwas
seen by SPECT Venous magnetic resonance (MR) angiography revealed reduction of the superficial cortical veins and
prominent deep collateral venous system in the same side of
the cerebral lesion. Cranial MR imaging with Gd-DTPA
demonstrated the pial angioma.
Key words

CT - Epilepsy - MR - MR angiography MR with Gd-DTPA - SPECT - Shrge-Weber syndrome

Introduction

Sturge-Weber syndrome (SWS) is a neuroectodermal d w x e characterized by a facial port-wine nevus that
affects the area innervated by the h t sensory branch of the
trigerninal nerve, leptomeningeal angiomatosis ipsilateral to
facial nevus, seizures of a mostly focal type, hemiparesis or
hemipleaa which affects the contdateral side of leptomeningeal an@omatosis, and mental retardation. Diagnosis during
Me is usually made based on the presence of facial news
flammeus and radiological evidence of intracratllal calci6cation
(1). A few cases of SWS without port-wine stain have been
reported. Some were hagnosed on the basis of intracranial
caldtcation (2) and some others were confirmed histologically
and showed the leptomeningeal angiomatosis (6). Nowadays,
however, magnetic resonance imaging (MRI) enhanced with
gadolinium (Gd) DTPA discloses the cerebral and leptomeningeal lesions before the £irst evidence of SWS without needing
histological confirmation for diagnosing this disease. A case
with MRI w i d Gd-DTPA-enhanced MRI, MRI angiography
and SPECT studies is described in this report.

Received December 15, 1994; accepted February 24, 1995
Neuropediahics 26 (1995) 220-222
Q Hippohates Verlag Stuttgart

The patient is a 20-year-old woman. She was
the product of a llltenn uncomplicated pregnancy and delivery
with a birth weight of 3700 grams. No abnormalities were
noted during the first months of life. At 8 months of age the
patient had a complex partial seizure of a duration of 5 minutes
associated with fever. Within the following month, she presented four seizum of similar type unassociated with fever in
spite of the antiepileptic medication (Phenobarbital, 4 mg/kg/
day). Systemic neurologic examhation was normal.
Electroencephalography (EEG), skull X-ray
and pneumoencephalogram showed nonnal results. Phenytoin
(3 mg/kg/day) was added to phenobarbital. Psychomotor development was normal and the patient was able to walk without
support at 11months of age and she started to speak at 1314months. She was free of seizures during about two years.
Complex seizures reappeared at the age of 3 years. At this age,
EEG showed focal spike activity in the right occipitoparietd
region. Medication was changed to carbarnazepine (20 mg/kg/
day) but seizureswere not controlled satisfactorily. At 6 years of
age, X-ray of skull revealed calcific densities of SWS type in the
right occipital area. Computed tomography (CT) scan presented
a gyral pattern of cortical and subcortical calc~ficationin the
right occipital region. Phenytoin, carbarnazepine, and valproate in various combinations controlled the seizures during some
times although not completely. She, however, was able to live a
normal Me. She finished the primary studies at 15years of age
and started to work at 16 years.
At the age of 15years, CT showed corticosubcortical calcifications in the right occipital zone with cortical
atrophy in this area and enlargement of nght chomid plexus. At
20 years of age, magnetic resonance (MR) revealed cortical and
subcortical hypointensity of calci6ed leptomeningeal angioma
in the nght occipital zone. Enhanced MR with intravenous
admiuistration of gadolinium (Gd-DTPA) showed pial angiomatosis with aaacent cerebral angiomatosis in the right occipital area @g. 1) and enlargement and angiomatous appearance of the right choroid plexus. Venous MR angiography
(MRA) revealed decrease of supeficial cortical veins and
prominent deep collateral venous system that drains into the
cavernous sinus (Fig. 2). No changes were seen in retina.
Arterial MRA did not present any anomaly Single photon
emission computed tomography (SPECT) with techneticum
Tc 99m (99mTc) showed a markedly hypoperfused area which
extended on all the posterior zone of the right cerebral hernisphere beyond the area marked by the CTand the MR studies.
Q u a n w g the perfusion on the symmetrical areas of both

Downloaded by: Universite de Sherbrooke. Copyrighted material.

Abstract

-

Neumpediatrics 26 (1995) 221

Fig. 2 Venous MRA In coronal Image demonstrates decreased cortical
velns In the right hemlsphere lamwsl and the presence of a deep veln
[arrowhead]wtth dralnage Into the cavernous slnus.

Fig. 1 Enhanced MR wlth Gd-DTPA discloses hypenlgnallzed rlght occl-

pltal cortex-leptomenlnges (arrowheadsl.

hemispheres revealed a valuable Merence between them with
decrease of the right one (Fig. 3).

Discussion
To accept as SWS cases without facial portwine stains in spite of having other clinical and neuroradiological signs such as focal seinzres, intracranial calcifications,
hernipareis and mental retardation usually has been a controversial subject (9). A high proportion of cases without facial
port-wine nevus has been published in some series of SWS.
P e t m a n et a1 (9) reported five of 35 patients, Tdnnis and
Friedmann (12) four of 23. Lund (7), however, found seven
patients without the facial nevus with two proven at surgery in
a review of 144 cases of SWS. T h s is more in agreement with
our findmgs, one case without nevus and 40 with facial portwine nevus (8). Ocular abnormalities are only present in
patients of SWS with nevus flammeus affecting the uppcr eyelid
(8). Because of this, there are no descriptions of SWS without
port-wine nevus with ocular complications.

Flg.3 Axlal vlew of the technetium Tc99m SPECT In quantified study
showlng a wlde zone a f hypoperfuslon In the rlght occlpltal area. The table
presents an Important dlfference of perfuston between both parletcocclpltal areas severely decreased In the rlght slde.

life. The lack of superficial cortical veins associated to thcken-

ing and tortuosity of the deep hemispheric veins ipsilateraI to
the facial nevus flammeus is also related to SWS (4, 10). ?b
include or not cases without facial port-wine nevus as SWS in
spite of showing intracranial lesions slmilar to those patients
with facial an@omainvolving the forehead has been controversial. Nowadays, however, these cases are generally accepted as
such. Perhaps in a next future molecular genetics may confirm
SPECT studies show £rom early ages decreased or discard the diagnosis of SWS, maybe through the presence of
regional cerebral blood flow (rCBF) in the area of the lesion (5, some type of mosaicism.
11).
Demonstration of pial angioma by imaging is
only posible by MRI: with Gd-DTPA (3, 8). It should be
considered the most important criterion for the radiographic
diagnosis of SWS (3) and it permits us to make the diagnosis of
SWS without facial nevus flammeus during the h t months of

Downloaded by: Universite de Sherbrooke. Copyrighted material.

Sturpe-Weber Svndmme Without Facial Nevus

Alexander, G. L:Stmge-Weber syndrome. In: Vinken, P. I., G.W Bruyn
(Eds): Handbook of Clinical Neurology, Vd 14, chap 7. Amsterdam,

North Holland (1972)223-240
Andriola, M.,J. Stolfi:StugeWeber syndrome: Report of an atypical
case. Amer J. Dis. Child. 123 (1975)507510
Benedikt,R.A,D. C. B m n , R. Walker, 'V; N. Ghed, M . Mitchell, C.
A. Geym Sturge-Webersyndrome: Ganial MR imaging with Gd-DTPA.
AJNR 14 (1993)409415
Bentson, 1. R., G . H. Wilson, T. H.Newton: cerebral venous drainage
pattern of the Sturge-Weber syndrome. Radiology 101 (1971)111-118
Chiron, C., C. Raynaud, N. Tmrio, C. Diebler, 0.Dulac, M.
Zibvicius, A. Syrofz Regional cerebral blood now by SPECT imaBing
in Sturge-Weba disease: an aid for diagnosis. J. Neurol. N m u r g .
Psychiaby 52 (1989)1402-1409
Lichtmtein, B. W.:Sturge-Weber-Dimitri syndrome. Arch. Neurol.
Bychiam 71 (1954)291-301
Lund, M.:On epilepsy in SturgeWeber disease. Acta Psychialr.Neurol.
21 (1949)568586
Pasanl-CIIStmviqo, I., C. & - m k ,R. M . Gah-Melian, I.
Gonzalez&&o,
E. MuiiozHiraldo: S t u t g e W h syndrome: Study
of 40 patients. Pedialr.N e m L 9 (1993)283-288
Peterman, A. E, A. B. Hayles, M.B. Dockerty, 1. G. Lone: Encephalotrigeminal angiomahis (Sturgeweher disease): Clinical study of fhtyfive cases. JAMA 167 (1958)216S2176
' O Pmbs, F. P: Vascular morphology and an@ographic h pattern in
StwgeWeber angiornatosis: Facts, thoughts, suggestion. Neurora&ologg
20 (1980)73-78
" Riela, A. R,D.A. Stump, E. S. Roach, W. T. M c h n , 1. C. Gar&:
Regional d r a l blood flow characteristics of the Sturge-Weber syndrome.Pediatr.Neurol. 1 (1985)85-90
l2 Tdnnis, W.,G. Friedmann: Roentge310logic and dinical fmdjngs in 23
patients with Sturge-Weberdisease. Zentralbl. NeurochiL 25 (1964)1-10

Dr. I m C M Pascual-Castmuieio

Head of the Service of F'ediatric Neurologg
Hospital Wantil "La Paz"
Paseo de la Castellana 281
E-28048Madrid
spain

Downloaded by: Universite de Sherbrooke. Copyrighted material.

'