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MR-Imaging Findings in Children with Sturge-Weber Syndrome By]. Spernerl , 1. Schmauserl , R. Bittner2, H. Henkes 2 , c. Bassir4, c. Sprung3, D. Schejfnerl and R. Felix2 lChildren's Hospital, Kaiserin Auguste Victoria Haus, 2Department of Radiology, 3Department of Neurosurgery, 4Department of Pediatric Radiology, Universitätsklinikum Rudolf Virchow, Freie Universität Berlin, Heubnerweg 6, D-1 000 Berlin 19
Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with SturgeWeber syndrome (SWS). Aged 7,9,11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms at the time of MRI examination. Angiomatous alteration of the skulI, atypically located and congested intracerebral and basal veins as weIl as intracerebral changes secondary to the leptomeningeal angiomatosis are demonstrated with T2 weighted images. Gd-DTPA enhanced Tl weighted images exhibit clearly the regional distribution of angiomatosis in the skull, meninges and within the brain. Before calcifications in children with SWS are detectable by CT, MRI is the method of choice to detect intracranial involvement. Enhancement with Gd-DTPA improves the diagnostic value of MRI, before neurological symptoms appear. Follow-up studies with Gd-DTPA enhanced MRI can be applied to recognize thrombotic changes of leptomeningeal angiomatosis as weIl as subsequent intracerebral impairment.
Keywords Gadolinium-DTPA Leptomeningeal angiomatosis - Magnetic resonance imaging - Sturge-Weber syndrome
Introduction Encephalotrigeminal
angiomatosis
the
Sturge-Weber syndrome - is a rare neurocutaneous syndrome characterized by leptomeningeal angiomatosis (LA) and facial nevus flammeus mostly located in the area of the first and second branch of the trigeminal nerve (1, 10, 33). Early development of intractable seizures followed by hemiparesis are signs of poor prognosis. Ophthalmologic problems i. e. glaucoma, buphthalmus and loss of vision as weIl as progressive mental reReceived October 15, 1989; accepted November 1, 1989 Neuropediatrics 21 (1990) 146-152 © Hippokrates Verlag Stuttgart
Die intrakranielle Ausdehnung und regionale Verteilung der leptomeningealen Angiomatose bei vier Kindern mit Sturge- Weber-Syndrom wird kernspintomographisch unter Benutzung des paramagnetischen Kontrastmittels Gadolinium-DTPA dargestellt. Zum Untersuchungszeitpunkt waren die Kinder 7,9, 11, und 19 Monate alt. Neben dem Naevus flammeus wiesen sie neurologische und okuläre Symptome auf, intrazerebrale Verkalkungen waren noch nicht vorhanden. Angiomatöse Veränderungen des knöchernen Schädels, atypisch lokalisierte und gestaute zerebrale Venen sowie sekundäre intrazerebrale Veränderungen werden in T2-betonten Bildern dargestellt. T I-betonte Bilder mit Gadolinium-DTPA zeigen erstmalig die leptomeningeale Angiomatose selbst sowie intrazerebrale Blut-Hirnschrankenstörungen. Die Kernspintomographie mit GadoliniumDTPA ist bei der Diagnostik dieser seltenen Phakomatose allen anderen bildgebenden Verfahren überlegen.
Abbreviations Gadolinium-DTPA (Gd-DTPA), leptomeningeal angiomatosis (LA), magnetic resonance imaging (MRI), signal intensity (SI), Sturge-Weber syndrome (SWS), Tl weighted images (TlWI), T2 weighted images (T2WI)
tardation are additional clinical findings. Over the last twenty years imaging methods were developed, which give detailed information about the presence and extent of brain involvement (5, 7, 8, 16, 30, 32, 36). X-ray of the skull shows tram-tracklike calcifications of the brain with advancing age, CT is more sensitive to detect calcifications in early childhood. Before they become visible, enhanced cranial CT-scans demonstrate disturbed drainage, visualized by intracerebral staining. Angiography can demonstrate a paucity of superficial cerebral veins. The exact distribution of LA, however, and some consecutive brain alterations can be visualized for the first time with MRI using Gd-DTPA-enhancement. In small children with trigeminal nevus flammeus, this method provides the best information about intracerebral involvement, before clinical symptoms and calcification indicate cerebral disturbance caused by
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Zusammenfassung
Abstract
Sturge-Weber Syndrome
Neuropediatrics 21 (1990)
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this vascular malformation. These findings are of importance for further prognosis, because development of affected children and the clinical course of tbis syndrome correlate weH with the regional extent of LA (1, 14, 28).
MRI was performed with a 0,5 T super conductive system (Magnetom Siemens) using a 30 cm head coil. In all children we obtained T2-weighted spin echo (SE) sequences (TR 1600 ms / TE 70 ms resp. TR 1600 ms / TE 90 ms) and heavily Tl-weighted multislice gradient echo (GRE) sequences (TR 315-400 ms / TE 14 ms). Slice thickness was 8 mm in axial and coronal planes. After i. v. application of 0.1 mmol GdDTPAper kg bodyweight the GRE sequences were repeated. The matrix size of the resulting images was 256 x 256 with pixel measurement 1.2 x 1.2 mm in image plane. The children required sedation with chloral hydrate (75 - 100 mg/kg body weight) rectally. Additional imaging methods were used in these patients as listed in Table 1. Table 1
Imagi ng methods.
Item
11. Pat. D. K. 12 . Pat.S. L.
13. PatTS. 14. Pat.R.G.
Age (months) at time of MRI
7
8
19
11
Ultrasound
yes
yes
yes
yes
11
Age (months) at time of CT enhancem. performed
I, 7, 19
4, 12
7
yes
no
yes
no
Angiography
yes
no
no
no
For ultrasound of the brain, a computer sonography device ACUSON 128 with a 5 MHz phased array sector and a 5 MHz linear transducer was used. CT-scans were performed with a third generation scanner (SOMATOM DR 2 Siemens) in axial slices, thickness of 4 resp. 8 mm.
Clinical and MRI tindings
Patient 1: D. K. This boy was diagnosed at birth by the presence of nevus flammeus in the cutaneous area of aH three trigeminal nerves on both sides of the face and further cutaneous vascular lesions over lips, mucosa of the palate, tongue, gums and cheeks, pharynx, larynx, also the trunk and aH extremities. Furthermore, phlebectasia of the trunk became visible a few months after birth. Angiomata of the inner organs were excluded so far sonographically. At birth plain radiography as weH as sonography and CT-scans revealed impressive macrocephaly hut no intracranial calcifications. Increasing hemihypertrophy of the left side of the body was recognized within the first six months and psychomotor retardation became obvious. Leftsided buphthalmus with increased intraocular pressure required operative intervention (cyclocryocoagulation) at three weeks of age. Several EEGs during the first year showed low voltage over the left hemisphere, predominantly the frontal areas, without epileptic discharges. SonographicaHy progres-
Fig. 1 Coronal ultrasound through the anterior fontanelle of patient D. K. Demonstrating two compartments of marked subdural hygroma (stars), brain atrophy and increased echogenicity of the cortical surface.
sive dilatation of the subarachnoid space with compartments separated by membranous structures (Fig. 1) and hydrocephalus intemus were noted. Because of increasing macrocephaly the boy was readmitted at seven months. Enhanced CT revealed slight intracerebral staining occipitaHy and of frontal meninges, whereas beginning calcification could only be detected by CT at 19 months. Angiography revealed large tortuous venous vascular structures overlying both hemispheres. Surgical drainage of the enormous hygromata and partial resection of frontal angiomatous leptomeninges were performed. Shortly after the neurosurgical intervention focal and generalized seizures had to be treated by antiepileptic drugs. On MRI, this patient had symmetrically broad subdural spaces in the frontal, temporal and parietal regions with generalized brain atrophy (Fig. 2a-c). On the T2WI we discovered two layers of the subdural space with high SI in the outer compartment underlying the dura mater (Fig. 2a). Frontal white matter had increased SI in the T2WI in comparison to occipital white matter (Fig.2a). On the T1WI the subdural space was a homogeneous signal void, only some scanty irregular linear signals were discernible. Enhanced Tl WI showed prominent staining of calvarian diploe, dura mater, meninges, left occipital intracerebral structures as weH as choroid plexus with ring-shaped angioma on the left side (Fig. 2b). Basal cerebral veins appeared to be congested after enhancement (Fig. 2c).
Patient 2: S. L. At four months of age this boy was admitted with left-sided focal seizures. The mother had already noted weakness of his left arm before focal convulsions started. During the first four months he had developed normally, pregnancy and delivery had been uneventful. Physical examination after birth revealed a port-wine stain of his right forehead, upper eyelid and cheek. Discontinuous status epilepticus was treated by phenytoin first. The EEG showed continuous slowing over the whole right hemisphere with episodic repetitive spike discharges. Since seizures reoccurred, phenobarbitone was introduced. Until the age of 10 months recurrent episodes of intermittent hemiparesis with incomplete recovery after status epilepticus
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Methods
Neuropediatrics 21 (1990)
a
]. Sperner et al
b
c
Fig. 2 MRI-findings of patient O. K. a) T2WI (SE 1600/70) reveal two compartments of the bilateral hygroma (white and black star), congested basal vein is signal void (black arrow), draining the angioma from the left occipitallateral ventricle. Frontal white matter has considerably increased SI, compared with the occipital one. b) Axial slices (GRE 40/14) after GdOTPA infusion exhibit enhanced LA within the subdural hygroma. Left occipitallobe demonstrates epicortical and intracerebral enhancement. Ring-
shaped angioma of choroid plexus is enhanced circulary with congested draining vein (arrow). Frontoparietal calvarium as weil as dura mater and falx cerebri (black asterisk) are markedly enhanced. c) Coronal Tl WI (GRE 40/14) with Gd-DTPA enhancement shows congested basal veins (white arrows) and slight cortical enhancement parietally. Enhanced LA is separating the two compartments of the hygroma (white stars). Dura mater and falx cerebri appeared to be enhanced.
oeeurred. Plain radiography of the skull was normal. Ultrasound was not informative, beeause of small anterior fontanelle. Native CT-seans at the age of four months demonstrated a distinet enlargement of the right-sided subaraehnoid spaee, whieh beeame markedly enlarged within the next eight months. Ophthalmologie examination revealed glaueoma of the right eye (28 mmHg pressure of anterior ehamber). Sinee antiglaueomatous therapy was not effeetive, eyeloeryoeoagulation was performed at the age of one year. MRI in this patient revealed involvement of the entire right hemieranium with thiekening of ealvarian diploe in the frontotemporal region and hemiatrophy of the underlying brain (Fig. 3a). T2WI showed thiekened leptomeningeal struetures on the right side with inereased SI in eomparison to CSF (Fig. 3a), not deteetable in T 1WI. Periventrieular white matter on the involved right side revealed deereased SI in T2WI, in eomparison to the left side. Right parietal eortical struetures adjaeent to the LA, showed very low SI in the T2WI (Fig. 3a). Intensive enhaneement after intravenous applieation of Gd-DTPA (Fig. 3b, e) was striking, surrounding the whole right hemisphere, penetrating deeply into the sulei and the adjaeent brain. Intraeerebral veins as weIl as ehoroid plexus appeared eongested (Fig. 3b, e).
18 months, antiepileptie medieation was ehanged from earbamazepine to phenytoin. At that time, postietal hemiparesis of the left extremities and moderate psyehomotor retardation was noted. Early EEGs showed slow-wave aetivity with high amplitudes over the right side without spike-wave diseharges, low voltage pattern was deteeted one year later. At 7 months, plain radiography of the skull and native CT did not show intraeranial ealeifieations, whereas enhaneed CT-scans showed slight staining over the right parietal hemisphere. MRI of this patient showed deereased SI on the T2WI in left oeeipital eortieal and subeortieal struetures eompared with the other side (Fig.4a). Congested veins appeared as signal void in the sagittal midline and biparietal white matter (Fig. 4a), and enhaneed partially after Gd-DTPA (Fig. 4b). Additional intraeerebral enhaneement oeeurred in different eireumseribed brain regions on both sides of variable intensity (Fig. 4b, e).
Patient 3: T. S. This 17-month-old boy was first seen at the age of 7 months, beeause of left-sided foeal motor seizures. Birth and development up to this age had been uneventful. A rightsided nevus flammeus in the eutaneous distribution of the first and seeond braneh of the trigeminal nerve overlapping the midline in the frontal region was reeognized after birth. Complex partial seizures started with seven months, and were treated with earbamazepine. Beeause of reeurrent left-sided seizures at
Patient 4: R. G. The first ehild of healthy and unrelated parents was born in the 41st week of gestation after normal pregnaney and delivery. A right-sided port wine stain of the first and second braneh of trigeminal nerve extended over the right frontal sealp. Some tortuous eonjunetival vessels in the right eye with radial arrangement to the iris were prominent at birth, but diminished later on, when slight megaloeornea was noted. Moderately elevated anterior ehamber pressure required antiglaueomatous medication. Up to the first birthday the boy developed normally with regular achievement of miIestones. EEG and head ultrasound examinations, performed during the neonatal period, were normal. Non-enhaneed eranial CT at 11 months revealed moderate enlargement of the left-sided lateral ventriele and irregular intraeerebral dense struetures in right temporo-oeeipital regions with some aeeentuated and eOll-
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Neuropediatrics 21 (1990)
a Fig.3 MRI-findings of patient S. L. a) T2WI (SE 1600/70) presents thickening of calvarian diploe (white arrows) over the right fronto-parietal brain surface with underlying brain atrophy. Thickened meningeal structures show increased SI (black asterisks). White matter of the involved side exhibits lower SI than the opposite side, respresenting accelerated myelination (black arrows). b) Axial Tl WI (GRE 31/14) after Gd-DTPA enhancement shows thickening of right fronto-parietal calvarian dip/oe, the
a
b
disturbed venous drainage of cortical surface and plexus chorioideus. In comparison to Fig. 3a additional intracerebral enhancement is obvious, representing disturbed blood-brain-barrier. c) Coronal Tl WI (GRE 31/14) demonstrates entire surface surrounded by enhanced LA, intracerebral enhancement is not c1early to differentiate. Ipsilateral brain atrophy is covered by enhancement.
c
Fig. 4 MRI-findings of patient T. S. a) Axial T2WI (SE 1600/70) demonstrates decreased SI in left occipital cortex and subcorticallayers. Congested cerebral veins appear signal void at cortical sulci and basal sagittal areas (arrows). b) Axial Tl WI (GRE 31/14) exhibits enhancement of LA and intracerebral structures after Gd-DTPA infusion in left occipital and right fronto-
parietal regions. c) Coronal slice shows impressive enhancement of LA and slight staining of subcortical white matter, interpreted as blood-brainbarrier damage. Note congested basal veins and enhanced choroid plexus (arrows).
densed gyri nearby. MRI revealed decreased SI in T2WI of the right occipital cortical and subcortical structures with increased SI of the adjacent subarachnoid space (Fig. 5a) and angioma of occipital horn of the right lateral ventricle, presenting as a ringshaped, centrally signal void figure in enhanced Tl WI (Fig. 5b).
Right occipital white matter showed less SI than left one. Atypical tortuous and congested cerebral veins appeared signal void parallel to the right lateral ventricle and at the base of the skulle These vessels showed enhancement with Gd-DTPA as weH as meningeal structures covering the parietooccipital brain surface
149
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Sturge-Weber Syndrome
Neuropediatrics 21 (1990)
]. Sperner et al labia 3
MRI-findings.
11. Pat. D. K·1 2. Pat.S. L. 13. Pat. T.S.
Item
\4. Pat.R.G.
Brain atrophy
bifrontal
R
no
Skull thickening
bifrontal
fronto-parietal R
no
Distribution of LA
bifrontal occipital L
frontal R entire R hemisphere parietal R occipital L
occipital
yes
yes
yes
yes
Angioma of choroid plexus
yes
no
no
yes
Congested intracranial veins
yes
yes
yes
yes
Accelerated myelinationn
occ.
R
no
R
Intracerebral enhancement underlyi ng LA
Note: R = right side. L = Left side. occ.
no no
R
= occipital.
a
on the right side. Additional cortical and intracerebral enhancement became obvious on the right parieto-occipital brain. Large round-shaped areas appeared signal void at the skull surface in T2WI and enhanced Tl WI.
Discussion
b Fig. 5 MR-findings of patient R. G. a) Axial T2WI (SE 1600/70) shows high SI of right occipital LA inside the sulci (asterisks), signal void of underIying cortex and congested atypical cerebral vein adjacent to the right lateral ventricle (white arrows). Right occipital white matter is of accelerated myelination because of less SI in comparison to the contralateral side (black arrow). b) Coronal Tl WI after Gd-DTPA enhancement shows marked staining in the right parieto-occipital intracerebral brain region, ring-shaped angioma of choroid plexus, which presents signal void centrally (black arrow). Left sinus transversus appears congested (broad arrow).
labia 2
Clinical findings.
Item Nevus flammeus
11. pat.D·K.1 2 . Pat.S.L. 13. PanS. 14 . Pat.R.G. generalized VI +2 right VI bilateral VI +2 right V2 right
Age at onset of seizures (months)
7
4
Hemiparesis
no
intercurrent intercurrent no postictal postictal
7
no seizures up to 1 year
Mental retard.
severe
no
moderate
no
Eye findings
glaucoma left
glaucoma right
normal
glaucoma right
SWS is one of the rare neurocutaneous syndromes presenting with facial, cerebral, and ocular symptoms due to angiomatous malformation (1, 11,28). LA is the fundamental lesion responsible for neurological symptoms. Up to 10 % of all children with facial port-wine stains are at risk for an associated cerebral angiomatosis (11), but LA seldom occurs without facial angiomatosis (2, 33). Alexander (1) proposed to name only that condition SWS, which consists of both trigeminal and LA, whereas Roach (28) differentiated three types of SWS: type 1 with the combination of facial and LA, type 2, with facial angiomatosis only, and type 3 with isolated LA. Pathological vessel formation with thinner walls than ordinary ones can be localized from the calvarian diploe throughout the cortex and white matter to the choroid plexus (10, 18, 23). Lack of superficial veins (5, 24) and presence of LA lead to disturbed brain circulation, resulting in hemostasis, increased capillary permeability and blood-brain-barrier damage (10, 23, 25). Neurological symptoms in SWS are the consequence ofthis pathomechanism and sometimes have a poor prognosis. In cases of intractable seizures, early neurosurgical treatment with hemispherectomy, section of corpus callosum and lobectomy is recommended by some authors (6, 15, 27, 29). Other therapeutical means are symptomatic. Laser therapy is sometimes used successfully in treatment of cutaneous angiomatosis (34). Up to this moment, CT was the best radiological method to evaluate patients with SWS, suspected for intracranial vaseular malformation. Extent and localization of intracerebral calcifications as the result of thrombotic obliteration and ischemia can be demonstrated, few observations are reported with calcifications at birth (1 7, 22). Angioma of the choroid plexus and thickening of the calvarium can be detected, enhancement improves the diagnostic value, before calcifications originate, showing diffuse staining of cerebral regions affected byLA (12,17,19,36).
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Sturge-Weber Syndrome
Alterations of white matter in T2WI are remarkable in each patient, if compared with the contralateral, non affected hemisphere. In three of our patients we are able to demonstrate different myelination pattern according to the distribution of LA (contralateral in Figs. 3a, 5a, and in comparison to the frontal side, Fig. 2a). These findings will be restricted to small children with immature myelination pattern (4) and are not demonstrable in older children (7, 32). Therefore, we agree with the observations of]acoby et al (16), who interpretated different white matter pattern as accelerated myelination in two infants with SWS. FoIlow-up MRI-studies with Gd-DTPA, performed in children with progressive neurological deterioration, can differentiate gliosis from accelerated myelination and demonstrate intracerebral changes of progressive thrombotic obliteration.
Chugani et al (8) in their recent PET-study of SWS, report on paradoxical pattern of increased metabolism of the affected hemisphere in two little children. This observation supports our hypothesis of temporary and regional hyperperfusion during the course to successive thrombotic obliteration of this cerebrovascular malformation. We suppose regional hyperperfusion causing progressive changes like hemihypertrophy, hemimegalencephaly, enlargement of calvarian diploe and accelerated myelination. Simultaneous regressive changes (i. e. calcification and brain atrophy) are due to thrombotic obliteration and ischemia. Dur first patient D. K. exhibits a different kind of LA pattern. Here the LA is lifted off from brain surface in fronto-parietal regions, resulting in hygromata with high CSFcontent, caused by barrier-damage between blood and CSF. In this case ultrasound revealed LA and underlying brain atrophy with pronounced cortical structures (Fig. 1), according to recent report of ultrasound in SWS (13). Additional intracerebral involvement is noted occipitaIly. This patient is diagnosed as KUppel-Trenaunay- Weber syndrome, which is weIl known as a combination of SWS and Klippel-Trenaunay syndrome with widespread cutaneous angiomatosis (3, 9, 20, 35).
151
These new findings with more precise delineation of the pathological process underlying the SWS, and future consecutive studies could increase our knowledge about the pathomechanism of progressive neurological deterioration in this disease. Perhaps it could enable neurosurgeons to look for more differentiate techniques treating intractable seizures. In this study, Gd-DTPA enhanced MRI is shown to be the method of choice to detect cerebrovascular malformation in children with facial nevus flammeus suspected for SWS.
References Alexander, G. L.: Sturge-Weber Syndrome. Handbook of Clinical Neurology. Vinken, Bruyn (Eds) Amsterdam North-Holland 14 (1972) 223240 2 Ambrosetto, P., G. Ambrosetto, R. Michelucci, A. Bacci: Sturge-Weber Syndrome without port-wine facial nevus. Report of 2 cases studied by CT. Childs Brain 10 (1983) 387-392 3 Anlar, B., K. Yalaz, C. Erzen: Klippel-Trenaunay-Weber Syndrome: A case with cerebra! hemihypertrophy. Neuroradiology 30 (1988) 360367 4 Barkovich, A.]., B. O. Kjos, D. E.]ackson, D. Norman: Normal maturation of neonatal and infant brain: MR-imaging at 1,5 T. Radiology 166 (1988) 173-180 5 Bentson,]. R., G. H. Wilson, T. H. Newton: Cerebral venous drainage pattern ofthe Sturge-Weber Syndrome. Radiology 101 (1971) 111-118 6 Buttler, G., F.]. Schulte: Zur operativen Behandlung des Sturge-Weber Syndroms. Neuropädiatrie 6 (1975) 135-141 7 Chamberlain, M. C., G. A. Press,]. R. Hesselink: MR Imaging and CT in three cases of Sturge-Weber Syndrome: Prospective Comparison. AJNR 10(1989)491-496 8 Chugani, H. T.,]. Mazziotta, M. Phelps: Sturge-Weber Syndrome: A study of cerebral glucose utilization with positron emission tomography. J. Pediatr. 114 (1989) 244-253 9 Deutsch,]., G. Weissenbacher, K. Widhalm, G. Wolf; B. Barsegar: Kombination von Sturge-Weber und Klippel-Trenaunay Syndrom. Klin. Pädiatr. 188 (1976) 464 10 Di Trapani, G., C. Di Rocco, A. L. Abbamondt, M. Caldarelli, M. Pocchiari: Light microscopy and ultrastructural studies of Sturge-Weber Disease. Childs Brain 9 (1982) 23-36 11 Enjolras, 0., M. C. Riche,].]. Merland: Facial portwine stains and Sturge-Weber Syndrome. Pediatrics 76 (1985) 48-51 12 Enzmann, D. R., R. W. Hayward, D. Norman, R. P. Dunn: Cranial computed tomographie scan appearance of Sturge-Weber Disease: Unusual presentation. Radiology 122 (1977) 721-724 11 Franek, A., H. Böcker: Frühdiagnose eines Sturge-Weber Syndroms mit Hilfe der Hirnsonographie. Pädiat. Prax. 36 (1988) 687-690 14 Garcia,]. C., E. S. Roach, W. T. McLean: Recurrent thrombotic deterioration in the Sturge-Weber Syndrome. Childs Brain 8 (1981) 427-433 15 Hoffman, H. ]., E. B. Hendrick, M. Dennis, D. Amstrong: Hemispherectomy for Sturge-Weber Syndrome. Childs Brain 5 (1979) 233-248 16 ]acoby, C. G., W. Yuh, T. C. Adel, K. Afifi, W. E. Bell, R. L. Schelper, Y. Sato: Accelerated myelination in early Sturge-Weber Syndrome demonstrated by MR imaging. J. Comput. Assist. Tomogr. 11 (1987) 226-231 17 Kitahara, T., Y. Maki: A case of Sturge-Weber Disease with epilepsy and intracranial calcification at the neonatal period. Eur. Neurol. 17 (1978) 8-12 18 Lichtenstein, B., C. Rosenberg: Sturge-Weber-Dimitri's Disease. Reportof an abortive case with observations on the form, chemical nature and pathogenesis of the cerebral cortical concretions. J. Neuropathol. Exp. Neurol. 6 (1947) 369-382 19 Maki, Y., A. Semba: Computed tomography of Sturge-Weber Disease. Childs Brain 5 (1979) 51-61 20 Meyer, E.: Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge-Weber/Klippel-Trenaunay Syndrome). Neuropädiatrie 10 (1979) 67-75 21 Möller, ]., W. Höhn, K. PressIer, C. Römke, M. Kirschstein: Diagnostik cerebraler Fehlbildungen bei Kindern mit neurocutanen Syndromen mit 1
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Dur results show, that MRI with Gd-DTPA enhancement, is able to visualize LA itself in children, before thrombotic obliteration occurs (14, 30). Regional distribution and extent of LA are clearly visible in axial and coronal planes. The value of enhanced MRI in depicting meninges and intracerebralIesions has been described recently (26, 31). This is exemplified clearly in our cases with SWS. Impressive Gd-DTPA enhancement of meninges and intracerebral structures in all four patients with SWS is thought to be the result of disturbed brain circulation, visualized by congested cerebral veins with signal void in T2WI. Blood-brain-barrier damage, supposed by the cause of intracerebral enhancement, is resulting from diminished venous blood flow and a pathological architecture of thinwalled angiomatous vessels (10, 22, 23). LA, visualized by epicortical Gd-DTPA enhancement in T1WI, could not clearly be differentiated from intracerebral enhancement, whereas in T2WI LA is discernible with high SI in two patients (Fig. 3a, 5a). The low SI of cortical and subcortical structures in T2WI of three patients (Figs. 3a, 4a, 5a) indicate cortical and subcortical impairment prior to calcification because of the infiltrating angiomatosis. Midbrain, brainstem and infratentorial ·structures were not involved by secondary changes due to LA. Other recent MRI studies in SWS did not refer to the use of GdDTPA (7, 16, 21, 32).
Neuropediatrics 21 (1990)
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152 Neuropediatrics 21 (1990)
Ihr Wegweiser vor Ort
Schömer, W., H. Henkes, B. Sander, R. Felix: MR-Darstellung der Meningen: Normale und pathologische Befunde. Fortschr. Röntgenstr. 149(1988)361-362 32 Stimac, G.]. K., M. A. Solomon, T. H. Newton: CT and MR of angiomatous malformations of the choroid plexus in patients with SturgeWeber Disease. AJNR 7 (1986) 623-627 33 Taly, A. B., D. Nagaraja, S. Das, S. K. Shankar, N. G. Pratibha: SturgeWeber-Dimitri disease without facial nevus. Neurology 37 (1987) 10631064 34 Tan, O. T., B. A. Gilchrest: Laser therapy for selected cutaneous vascular lesions in pediatric population. A review. Pediatrics 82 (1988) 652-662 35 Teller, H., B. Lindner: Über Mischformen der phakomatösen Syndrome von Sturge-Weber und Klippel-Trenaunay. Zeitschr. Haut-Geschlkrh 13 (1952) 113 36 Welch, K., M. H. Naheedy, 1. F. Abroms, R. D. Strand: Computed tomography of Sturge-Weber Syndrome in infants. J. Comput. Assist. Tomogr. 4 (1980) 33-36
31
]. Spemer, M. D.
Children's Hospital KAVH Universitätsklinikum Rudolf Virchow Freie Universität Berlin Heubnerweg 6 D-1000 Berlin 19
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Georg Thieme Verlag Stuttgart· N ew York
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konventioneller Computertomographie und Kernspintomographie. Päd. Praxis 38 (1989) 483-512 22 Nellhaus, G., C. Haberland, B.]. Hill: Sturge-WeberDiseasewithbilateral intracranial calcifications at birth and unusual pathologic findings. Acta Neurol. Scand. 43 (1967) 314-347 23 Norman, M., W. C. Schoene: TheultrastructureofSturge-WeberDisease. Acta Neuropathol. (Berl) 37 (1977) 199-205 24 Poser, G. M., ]. M. Taveras: Cerebral angiography in encephalotrigeminal angiomatosis. Radiology 68 (1959) 327-336 25 Probst, F. P.: Vascular morphology and angiographic flow pattern in Sturge-Weber Angiomatosis: facts, thoughts and suggestion. Neuroradiology 20 (1980) 73-78 26 Powers, T. A., et al: Central nervous system lesions in pediatric patients Gd-DTPA-enhanced MR Imaging. Radiology 169 (1988) 723-726 27 Rappaport, Z. H.: Corpus callosum section in the treatment of intractable seizures in the Sturge-WeberSyndrome. Child's Nerv Syst. 4 (1988) 231232 28 Roach, E. S.: Diagnosis and management of neurocutaneous syndromes. Semin. Neurol. 9 (1988) 91-141 29 Rosen, 1., L. Salford, L. Starck: Sturge-Weber Disease - Neurophysiological evaluation of a case with secondary epileptogenesis, successfully treated with lobectomy. Neuropediatrics 15 (1984) 95-98 30 Segall, H. D.,]. Ahmadi,]. G. McComb, C. Zee, T. S. Becker, H. S. Han: Computed tomographic observations pertinent to intracranial venous thrombotic and occlusive disease in childhood. Radiology 143 (1982) 441-449
MR-Imaging Findings in Children with Sturge-Weber Syndrome By]. Spernerl , 1. Schmauserl , R. Bittner2, H. Henkes 2 , c. Bassir4, c. Sprung3, D. Schejfnerl and R. Felix2 lChildren's Hospital, Kaiserin Auguste Victoria Haus, 2Department of Radiology, 3Department of Neurosurgery, 4Department of Pediatric Radiology, Universitätsklinikum Rudolf Virchow, Freie Universität Berlin, Heubnerweg 6, D-1 000 Berlin 19
Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with SturgeWeber syndrome (SWS). Aged 7,9,11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms at the time of MRI examination. Angiomatous alteration of the skulI, atypically located and congested intracerebral and basal veins as weIl as intracerebral changes secondary to the leptomeningeal angiomatosis are demonstrated with T2 weighted images. Gd-DTPA enhanced Tl weighted images exhibit clearly the regional distribution of angiomatosis in the skull, meninges and within the brain. Before calcifications in children with SWS are detectable by CT, MRI is the method of choice to detect intracranial involvement. Enhancement with Gd-DTPA improves the diagnostic value of MRI, before neurological symptoms appear. Follow-up studies with Gd-DTPA enhanced MRI can be applied to recognize thrombotic changes of leptomeningeal angiomatosis as weIl as subsequent intracerebral impairment.
Keywords Gadolinium-DTPA Leptomeningeal angiomatosis - Magnetic resonance imaging - Sturge-Weber syndrome
Introduction Encephalotrigeminal
angiomatosis
the
Sturge-Weber syndrome - is a rare neurocutaneous syndrome characterized by leptomeningeal angiomatosis (LA) and facial nevus flammeus mostly located in the area of the first and second branch of the trigeminal nerve (1, 10, 33). Early development of intractable seizures followed by hemiparesis are signs of poor prognosis. Ophthalmologic problems i. e. glaucoma, buphthalmus and loss of vision as weIl as progressive mental reReceived October 15, 1989; accepted November 1, 1989 Neuropediatrics 21 (1990) 146-152 © Hippokrates Verlag Stuttgart
Die intrakranielle Ausdehnung und regionale Verteilung der leptomeningealen Angiomatose bei vier Kindern mit Sturge- Weber-Syndrom wird kernspintomographisch unter Benutzung des paramagnetischen Kontrastmittels Gadolinium-DTPA dargestellt. Zum Untersuchungszeitpunkt waren die Kinder 7,9, 11, und 19 Monate alt. Neben dem Naevus flammeus wiesen sie neurologische und okuläre Symptome auf, intrazerebrale Verkalkungen waren noch nicht vorhanden. Angiomatöse Veränderungen des knöchernen Schädels, atypisch lokalisierte und gestaute zerebrale Venen sowie sekundäre intrazerebrale Veränderungen werden in T2-betonten Bildern dargestellt. T I-betonte Bilder mit Gadolinium-DTPA zeigen erstmalig die leptomeningeale Angiomatose selbst sowie intrazerebrale Blut-Hirnschrankenstörungen. Die Kernspintomographie mit GadoliniumDTPA ist bei der Diagnostik dieser seltenen Phakomatose allen anderen bildgebenden Verfahren überlegen.
Abbreviations Gadolinium-DTPA (Gd-DTPA), leptomeningeal angiomatosis (LA), magnetic resonance imaging (MRI), signal intensity (SI), Sturge-Weber syndrome (SWS), Tl weighted images (TlWI), T2 weighted images (T2WI)
tardation are additional clinical findings. Over the last twenty years imaging methods were developed, which give detailed information about the presence and extent of brain involvement (5, 7, 8, 16, 30, 32, 36). X-ray of the skull shows tram-tracklike calcifications of the brain with advancing age, CT is more sensitive to detect calcifications in early childhood. Before they become visible, enhanced cranial CT-scans demonstrate disturbed drainage, visualized by intracerebral staining. Angiography can demonstrate a paucity of superficial cerebral veins. The exact distribution of LA, however, and some consecutive brain alterations can be visualized for the first time with MRI using Gd-DTPA-enhancement. In small children with trigeminal nevus flammeus, this method provides the best information about intracerebral involvement, before clinical symptoms and calcification indicate cerebral disturbance caused by
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Zusammenfassung
Abstract
Sturge-Weber Syndrome
Neuropediatrics 21 (1990)
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this vascular malformation. These findings are of importance for further prognosis, because development of affected children and the clinical course of tbis syndrome correlate weH with the regional extent of LA (1, 14, 28).
MRI was performed with a 0,5 T super conductive system (Magnetom Siemens) using a 30 cm head coil. In all children we obtained T2-weighted spin echo (SE) sequences (TR 1600 ms / TE 70 ms resp. TR 1600 ms / TE 90 ms) and heavily Tl-weighted multislice gradient echo (GRE) sequences (TR 315-400 ms / TE 14 ms). Slice thickness was 8 mm in axial and coronal planes. After i. v. application of 0.1 mmol GdDTPAper kg bodyweight the GRE sequences were repeated. The matrix size of the resulting images was 256 x 256 with pixel measurement 1.2 x 1.2 mm in image plane. The children required sedation with chloral hydrate (75 - 100 mg/kg body weight) rectally. Additional imaging methods were used in these patients as listed in Table 1. Table 1
Imagi ng methods.
Item
11. Pat. D. K. 12 . Pat.S. L.
13. PatTS. 14. Pat.R.G.
Age (months) at time of MRI
7
8
19
11
Ultrasound
yes
yes
yes
yes
11
Age (months) at time of CT enhancem. performed
I, 7, 19
4, 12
7
yes
no
yes
no
Angiography
yes
no
no
no
For ultrasound of the brain, a computer sonography device ACUSON 128 with a 5 MHz phased array sector and a 5 MHz linear transducer was used. CT-scans were performed with a third generation scanner (SOMATOM DR 2 Siemens) in axial slices, thickness of 4 resp. 8 mm.
Clinical and MRI tindings
Patient 1: D. K. This boy was diagnosed at birth by the presence of nevus flammeus in the cutaneous area of aH three trigeminal nerves on both sides of the face and further cutaneous vascular lesions over lips, mucosa of the palate, tongue, gums and cheeks, pharynx, larynx, also the trunk and aH extremities. Furthermore, phlebectasia of the trunk became visible a few months after birth. Angiomata of the inner organs were excluded so far sonographically. At birth plain radiography as weH as sonography and CT-scans revealed impressive macrocephaly hut no intracranial calcifications. Increasing hemihypertrophy of the left side of the body was recognized within the first six months and psychomotor retardation became obvious. Leftsided buphthalmus with increased intraocular pressure required operative intervention (cyclocryocoagulation) at three weeks of age. Several EEGs during the first year showed low voltage over the left hemisphere, predominantly the frontal areas, without epileptic discharges. SonographicaHy progres-
Fig. 1 Coronal ultrasound through the anterior fontanelle of patient D. K. Demonstrating two compartments of marked subdural hygroma (stars), brain atrophy and increased echogenicity of the cortical surface.
sive dilatation of the subarachnoid space with compartments separated by membranous structures (Fig. 1) and hydrocephalus intemus were noted. Because of increasing macrocephaly the boy was readmitted at seven months. Enhanced CT revealed slight intracerebral staining occipitaHy and of frontal meninges, whereas beginning calcification could only be detected by CT at 19 months. Angiography revealed large tortuous venous vascular structures overlying both hemispheres. Surgical drainage of the enormous hygromata and partial resection of frontal angiomatous leptomeninges were performed. Shortly after the neurosurgical intervention focal and generalized seizures had to be treated by antiepileptic drugs. On MRI, this patient had symmetrically broad subdural spaces in the frontal, temporal and parietal regions with generalized brain atrophy (Fig. 2a-c). On the T2WI we discovered two layers of the subdural space with high SI in the outer compartment underlying the dura mater (Fig. 2a). Frontal white matter had increased SI in the T2WI in comparison to occipital white matter (Fig.2a). On the T1WI the subdural space was a homogeneous signal void, only some scanty irregular linear signals were discernible. Enhanced Tl WI showed prominent staining of calvarian diploe, dura mater, meninges, left occipital intracerebral structures as weH as choroid plexus with ring-shaped angioma on the left side (Fig. 2b). Basal cerebral veins appeared to be congested after enhancement (Fig. 2c).
Patient 2: S. L. At four months of age this boy was admitted with left-sided focal seizures. The mother had already noted weakness of his left arm before focal convulsions started. During the first four months he had developed normally, pregnancy and delivery had been uneventful. Physical examination after birth revealed a port-wine stain of his right forehead, upper eyelid and cheek. Discontinuous status epilepticus was treated by phenytoin first. The EEG showed continuous slowing over the whole right hemisphere with episodic repetitive spike discharges. Since seizures reoccurred, phenobarbitone was introduced. Until the age of 10 months recurrent episodes of intermittent hemiparesis with incomplete recovery after status epilepticus
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Methods
Neuropediatrics 21 (1990)
a
]. Sperner et al
b
c
Fig. 2 MRI-findings of patient O. K. a) T2WI (SE 1600/70) reveal two compartments of the bilateral hygroma (white and black star), congested basal vein is signal void (black arrow), draining the angioma from the left occipitallateral ventricle. Frontal white matter has considerably increased SI, compared with the occipital one. b) Axial slices (GRE 40/14) after GdOTPA infusion exhibit enhanced LA within the subdural hygroma. Left occipitallobe demonstrates epicortical and intracerebral enhancement. Ring-
shaped angioma of choroid plexus is enhanced circulary with congested draining vein (arrow). Frontoparietal calvarium as weil as dura mater and falx cerebri (black asterisk) are markedly enhanced. c) Coronal Tl WI (GRE 40/14) with Gd-DTPA enhancement shows congested basal veins (white arrows) and slight cortical enhancement parietally. Enhanced LA is separating the two compartments of the hygroma (white stars). Dura mater and falx cerebri appeared to be enhanced.
oeeurred. Plain radiography of the skull was normal. Ultrasound was not informative, beeause of small anterior fontanelle. Native CT-seans at the age of four months demonstrated a distinet enlargement of the right-sided subaraehnoid spaee, whieh beeame markedly enlarged within the next eight months. Ophthalmologie examination revealed glaueoma of the right eye (28 mmHg pressure of anterior ehamber). Sinee antiglaueomatous therapy was not effeetive, eyeloeryoeoagulation was performed at the age of one year. MRI in this patient revealed involvement of the entire right hemieranium with thiekening of ealvarian diploe in the frontotemporal region and hemiatrophy of the underlying brain (Fig. 3a). T2WI showed thiekened leptomeningeal struetures on the right side with inereased SI in eomparison to CSF (Fig. 3a), not deteetable in T 1WI. Periventrieular white matter on the involved right side revealed deereased SI in T2WI, in eomparison to the left side. Right parietal eortical struetures adjaeent to the LA, showed very low SI in the T2WI (Fig. 3a). Intensive enhaneement after intravenous applieation of Gd-DTPA (Fig. 3b, e) was striking, surrounding the whole right hemisphere, penetrating deeply into the sulei and the adjaeent brain. Intraeerebral veins as weIl as ehoroid plexus appeared eongested (Fig. 3b, e).
18 months, antiepileptie medieation was ehanged from earbamazepine to phenytoin. At that time, postietal hemiparesis of the left extremities and moderate psyehomotor retardation was noted. Early EEGs showed slow-wave aetivity with high amplitudes over the right side without spike-wave diseharges, low voltage pattern was deteeted one year later. At 7 months, plain radiography of the skull and native CT did not show intraeranial ealeifieations, whereas enhaneed CT-scans showed slight staining over the right parietal hemisphere. MRI of this patient showed deereased SI on the T2WI in left oeeipital eortieal and subeortieal struetures eompared with the other side (Fig.4a). Congested veins appeared as signal void in the sagittal midline and biparietal white matter (Fig. 4a), and enhaneed partially after Gd-DTPA (Fig. 4b). Additional intraeerebral enhaneement oeeurred in different eireumseribed brain regions on both sides of variable intensity (Fig. 4b, e).
Patient 3: T. S. This 17-month-old boy was first seen at the age of 7 months, beeause of left-sided foeal motor seizures. Birth and development up to this age had been uneventful. A rightsided nevus flammeus in the eutaneous distribution of the first and seeond braneh of the trigeminal nerve overlapping the midline in the frontal region was reeognized after birth. Complex partial seizures started with seven months, and were treated with earbamazepine. Beeause of reeurrent left-sided seizures at
Patient 4: R. G. The first ehild of healthy and unrelated parents was born in the 41st week of gestation after normal pregnaney and delivery. A right-sided port wine stain of the first and second braneh of trigeminal nerve extended over the right frontal sealp. Some tortuous eonjunetival vessels in the right eye with radial arrangement to the iris were prominent at birth, but diminished later on, when slight megaloeornea was noted. Moderately elevated anterior ehamber pressure required antiglaueomatous medication. Up to the first birthday the boy developed normally with regular achievement of miIestones. EEG and head ultrasound examinations, performed during the neonatal period, were normal. Non-enhaneed eranial CT at 11 months revealed moderate enlargement of the left-sided lateral ventriele and irregular intraeerebral dense struetures in right temporo-oeeipital regions with some aeeentuated and eOll-
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Neuropediatrics 21 (1990)
a Fig.3 MRI-findings of patient S. L. a) T2WI (SE 1600/70) presents thickening of calvarian diploe (white arrows) over the right fronto-parietal brain surface with underlying brain atrophy. Thickened meningeal structures show increased SI (black asterisks). White matter of the involved side exhibits lower SI than the opposite side, respresenting accelerated myelination (black arrows). b) Axial Tl WI (GRE 31/14) after Gd-DTPA enhancement shows thickening of right fronto-parietal calvarian dip/oe, the
a
b
disturbed venous drainage of cortical surface and plexus chorioideus. In comparison to Fig. 3a additional intracerebral enhancement is obvious, representing disturbed blood-brain-barrier. c) Coronal Tl WI (GRE 31/14) demonstrates entire surface surrounded by enhanced LA, intracerebral enhancement is not c1early to differentiate. Ipsilateral brain atrophy is covered by enhancement.
c
Fig. 4 MRI-findings of patient T. S. a) Axial T2WI (SE 1600/70) demonstrates decreased SI in left occipital cortex and subcorticallayers. Congested cerebral veins appear signal void at cortical sulci and basal sagittal areas (arrows). b) Axial Tl WI (GRE 31/14) exhibits enhancement of LA and intracerebral structures after Gd-DTPA infusion in left occipital and right fronto-
parietal regions. c) Coronal slice shows impressive enhancement of LA and slight staining of subcortical white matter, interpreted as blood-brainbarrier damage. Note congested basal veins and enhanced choroid plexus (arrows).
densed gyri nearby. MRI revealed decreased SI in T2WI of the right occipital cortical and subcortical structures with increased SI of the adjacent subarachnoid space (Fig. 5a) and angioma of occipital horn of the right lateral ventricle, presenting as a ringshaped, centrally signal void figure in enhanced Tl WI (Fig. 5b).
Right occipital white matter showed less SI than left one. Atypical tortuous and congested cerebral veins appeared signal void parallel to the right lateral ventricle and at the base of the skulle These vessels showed enhancement with Gd-DTPA as weH as meningeal structures covering the parietooccipital brain surface
149
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Sturge-Weber Syndrome
Neuropediatrics 21 (1990)
]. Sperner et al labia 3
MRI-findings.
11. Pat. D. K·1 2. Pat.S. L. 13. Pat. T.S.
Item
\4. Pat.R.G.
Brain atrophy
bifrontal
R
no
Skull thickening
bifrontal
fronto-parietal R
no
Distribution of LA
bifrontal occipital L
frontal R entire R hemisphere parietal R occipital L
occipital
yes
yes
yes
yes
Angioma of choroid plexus
yes
no
no
yes
Congested intracranial veins
yes
yes
yes
yes
Accelerated myelinationn
occ.
R
no
R
Intracerebral enhancement underlyi ng LA
Note: R = right side. L = Left side. occ.
no no
R
= occipital.
a
on the right side. Additional cortical and intracerebral enhancement became obvious on the right parieto-occipital brain. Large round-shaped areas appeared signal void at the skull surface in T2WI and enhanced Tl WI.
Discussion
b Fig. 5 MR-findings of patient R. G. a) Axial T2WI (SE 1600/70) shows high SI of right occipital LA inside the sulci (asterisks), signal void of underIying cortex and congested atypical cerebral vein adjacent to the right lateral ventricle (white arrows). Right occipital white matter is of accelerated myelination because of less SI in comparison to the contralateral side (black arrow). b) Coronal Tl WI after Gd-DTPA enhancement shows marked staining in the right parieto-occipital intracerebral brain region, ring-shaped angioma of choroid plexus, which presents signal void centrally (black arrow). Left sinus transversus appears congested (broad arrow).
labia 2
Clinical findings.
Item Nevus flammeus
11. pat.D·K.1 2 . Pat.S.L. 13. PanS. 14 . Pat.R.G. generalized VI +2 right VI bilateral VI +2 right V2 right
Age at onset of seizures (months)
7
4
Hemiparesis
no
intercurrent intercurrent no postictal postictal
7
no seizures up to 1 year
Mental retard.
severe
no
moderate
no
Eye findings
glaucoma left
glaucoma right
normal
glaucoma right
SWS is one of the rare neurocutaneous syndromes presenting with facial, cerebral, and ocular symptoms due to angiomatous malformation (1, 11,28). LA is the fundamental lesion responsible for neurological symptoms. Up to 10 % of all children with facial port-wine stains are at risk for an associated cerebral angiomatosis (11), but LA seldom occurs without facial angiomatosis (2, 33). Alexander (1) proposed to name only that condition SWS, which consists of both trigeminal and LA, whereas Roach (28) differentiated three types of SWS: type 1 with the combination of facial and LA, type 2, with facial angiomatosis only, and type 3 with isolated LA. Pathological vessel formation with thinner walls than ordinary ones can be localized from the calvarian diploe throughout the cortex and white matter to the choroid plexus (10, 18, 23). Lack of superficial veins (5, 24) and presence of LA lead to disturbed brain circulation, resulting in hemostasis, increased capillary permeability and blood-brain-barrier damage (10, 23, 25). Neurological symptoms in SWS are the consequence ofthis pathomechanism and sometimes have a poor prognosis. In cases of intractable seizures, early neurosurgical treatment with hemispherectomy, section of corpus callosum and lobectomy is recommended by some authors (6, 15, 27, 29). Other therapeutical means are symptomatic. Laser therapy is sometimes used successfully in treatment of cutaneous angiomatosis (34). Up to this moment, CT was the best radiological method to evaluate patients with SWS, suspected for intracranial vaseular malformation. Extent and localization of intracerebral calcifications as the result of thrombotic obliteration and ischemia can be demonstrated, few observations are reported with calcifications at birth (1 7, 22). Angioma of the choroid plexus and thickening of the calvarium can be detected, enhancement improves the diagnostic value, before calcifications originate, showing diffuse staining of cerebral regions affected byLA (12,17,19,36).
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Sturge-Weber Syndrome
Alterations of white matter in T2WI are remarkable in each patient, if compared with the contralateral, non affected hemisphere. In three of our patients we are able to demonstrate different myelination pattern according to the distribution of LA (contralateral in Figs. 3a, 5a, and in comparison to the frontal side, Fig. 2a). These findings will be restricted to small children with immature myelination pattern (4) and are not demonstrable in older children (7, 32). Therefore, we agree with the observations of]acoby et al (16), who interpretated different white matter pattern as accelerated myelination in two infants with SWS. FoIlow-up MRI-studies with Gd-DTPA, performed in children with progressive neurological deterioration, can differentiate gliosis from accelerated myelination and demonstrate intracerebral changes of progressive thrombotic obliteration.
Chugani et al (8) in their recent PET-study of SWS, report on paradoxical pattern of increased metabolism of the affected hemisphere in two little children. This observation supports our hypothesis of temporary and regional hyperperfusion during the course to successive thrombotic obliteration of this cerebrovascular malformation. We suppose regional hyperperfusion causing progressive changes like hemihypertrophy, hemimegalencephaly, enlargement of calvarian diploe and accelerated myelination. Simultaneous regressive changes (i. e. calcification and brain atrophy) are due to thrombotic obliteration and ischemia. Dur first patient D. K. exhibits a different kind of LA pattern. Here the LA is lifted off from brain surface in fronto-parietal regions, resulting in hygromata with high CSFcontent, caused by barrier-damage between blood and CSF. In this case ultrasound revealed LA and underlying brain atrophy with pronounced cortical structures (Fig. 1), according to recent report of ultrasound in SWS (13). Additional intracerebral involvement is noted occipitaIly. This patient is diagnosed as KUppel-Trenaunay- Weber syndrome, which is weIl known as a combination of SWS and Klippel-Trenaunay syndrome with widespread cutaneous angiomatosis (3, 9, 20, 35).
151
These new findings with more precise delineation of the pathological process underlying the SWS, and future consecutive studies could increase our knowledge about the pathomechanism of progressive neurological deterioration in this disease. Perhaps it could enable neurosurgeons to look for more differentiate techniques treating intractable seizures. In this study, Gd-DTPA enhanced MRI is shown to be the method of choice to detect cerebrovascular malformation in children with facial nevus flammeus suspected for SWS.
References Alexander, G. L.: Sturge-Weber Syndrome. Handbook of Clinical Neurology. Vinken, Bruyn (Eds) Amsterdam North-Holland 14 (1972) 223240 2 Ambrosetto, P., G. Ambrosetto, R. Michelucci, A. Bacci: Sturge-Weber Syndrome without port-wine facial nevus. Report of 2 cases studied by CT. Childs Brain 10 (1983) 387-392 3 Anlar, B., K. Yalaz, C. Erzen: Klippel-Trenaunay-Weber Syndrome: A case with cerebra! hemihypertrophy. Neuroradiology 30 (1988) 360367 4 Barkovich, A.]., B. O. Kjos, D. E.]ackson, D. Norman: Normal maturation of neonatal and infant brain: MR-imaging at 1,5 T. Radiology 166 (1988) 173-180 5 Bentson,]. R., G. H. Wilson, T. H. Newton: Cerebral venous drainage pattern ofthe Sturge-Weber Syndrome. Radiology 101 (1971) 111-118 6 Buttler, G., F.]. Schulte: Zur operativen Behandlung des Sturge-Weber Syndroms. Neuropädiatrie 6 (1975) 135-141 7 Chamberlain, M. C., G. A. Press,]. R. Hesselink: MR Imaging and CT in three cases of Sturge-Weber Syndrome: Prospective Comparison. AJNR 10(1989)491-496 8 Chugani, H. T.,]. Mazziotta, M. Phelps: Sturge-Weber Syndrome: A study of cerebral glucose utilization with positron emission tomography. J. Pediatr. 114 (1989) 244-253 9 Deutsch,]., G. Weissenbacher, K. Widhalm, G. Wolf; B. Barsegar: Kombination von Sturge-Weber und Klippel-Trenaunay Syndrom. Klin. Pädiatr. 188 (1976) 464 10 Di Trapani, G., C. Di Rocco, A. L. Abbamondt, M. Caldarelli, M. Pocchiari: Light microscopy and ultrastructural studies of Sturge-Weber Disease. Childs Brain 9 (1982) 23-36 11 Enjolras, 0., M. C. Riche,].]. Merland: Facial portwine stains and Sturge-Weber Syndrome. Pediatrics 76 (1985) 48-51 12 Enzmann, D. R., R. W. Hayward, D. Norman, R. P. Dunn: Cranial computed tomographie scan appearance of Sturge-Weber Disease: Unusual presentation. Radiology 122 (1977) 721-724 11 Franek, A., H. Böcker: Frühdiagnose eines Sturge-Weber Syndroms mit Hilfe der Hirnsonographie. Pädiat. Prax. 36 (1988) 687-690 14 Garcia,]. C., E. S. Roach, W. T. McLean: Recurrent thrombotic deterioration in the Sturge-Weber Syndrome. Childs Brain 8 (1981) 427-433 15 Hoffman, H. ]., E. B. Hendrick, M. Dennis, D. Amstrong: Hemispherectomy for Sturge-Weber Syndrome. Childs Brain 5 (1979) 233-248 16 ]acoby, C. G., W. Yuh, T. C. Adel, K. Afifi, W. E. Bell, R. L. Schelper, Y. Sato: Accelerated myelination in early Sturge-Weber Syndrome demonstrated by MR imaging. J. Comput. Assist. Tomogr. 11 (1987) 226-231 17 Kitahara, T., Y. Maki: A case of Sturge-Weber Disease with epilepsy and intracranial calcification at the neonatal period. Eur. Neurol. 17 (1978) 8-12 18 Lichtenstein, B., C. Rosenberg: Sturge-Weber-Dimitri's Disease. Reportof an abortive case with observations on the form, chemical nature and pathogenesis of the cerebral cortical concretions. J. Neuropathol. Exp. Neurol. 6 (1947) 369-382 19 Maki, Y., A. Semba: Computed tomography of Sturge-Weber Disease. Childs Brain 5 (1979) 51-61 20 Meyer, E.: Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge-Weber/Klippel-Trenaunay Syndrome). Neuropädiatrie 10 (1979) 67-75 21 Möller, ]., W. Höhn, K. PressIer, C. Römke, M. Kirschstein: Diagnostik cerebraler Fehlbildungen bei Kindern mit neurocutanen Syndromen mit 1
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Dur results show, that MRI with Gd-DTPA enhancement, is able to visualize LA itself in children, before thrombotic obliteration occurs (14, 30). Regional distribution and extent of LA are clearly visible in axial and coronal planes. The value of enhanced MRI in depicting meninges and intracerebralIesions has been described recently (26, 31). This is exemplified clearly in our cases with SWS. Impressive Gd-DTPA enhancement of meninges and intracerebral structures in all four patients with SWS is thought to be the result of disturbed brain circulation, visualized by congested cerebral veins with signal void in T2WI. Blood-brain-barrier damage, supposed by the cause of intracerebral enhancement, is resulting from diminished venous blood flow and a pathological architecture of thinwalled angiomatous vessels (10, 22, 23). LA, visualized by epicortical Gd-DTPA enhancement in T1WI, could not clearly be differentiated from intracerebral enhancement, whereas in T2WI LA is discernible with high SI in two patients (Fig. 3a, 5a). The low SI of cortical and subcortical structures in T2WI of three patients (Figs. 3a, 4a, 5a) indicate cortical and subcortical impairment prior to calcification because of the infiltrating angiomatosis. Midbrain, brainstem and infratentorial ·structures were not involved by secondary changes due to LA. Other recent MRI studies in SWS did not refer to the use of GdDTPA (7, 16, 21, 32).
Neuropediatrics 21 (1990)
]. Sperneret al
152 Neuropediatrics 21 (1990)
Ihr Wegweiser vor Ort
Schömer, W., H. Henkes, B. Sander, R. Felix: MR-Darstellung der Meningen: Normale und pathologische Befunde. Fortschr. Röntgenstr. 149(1988)361-362 32 Stimac, G.]. K., M. A. Solomon, T. H. Newton: CT and MR of angiomatous malformations of the choroid plexus in patients with SturgeWeber Disease. AJNR 7 (1986) 623-627 33 Taly, A. B., D. Nagaraja, S. Das, S. K. Shankar, N. G. Pratibha: SturgeWeber-Dimitri disease without facial nevus. Neurology 37 (1987) 10631064 34 Tan, O. T., B. A. Gilchrest: Laser therapy for selected cutaneous vascular lesions in pediatric population. A review. Pediatrics 82 (1988) 652-662 35 Teller, H., B. Lindner: Über Mischformen der phakomatösen Syndrome von Sturge-Weber und Klippel-Trenaunay. Zeitschr. Haut-Geschlkrh 13 (1952) 113 36 Welch, K., M. H. Naheedy, 1. F. Abroms, R. D. Strand: Computed tomography of Sturge-Weber Syndrome in infants. J. Comput. Assist. Tomogr. 4 (1980) 33-36
31
]. Spemer, M. D.
Children's Hospital KAVH Universitätsklinikum Rudolf Virchow Freie Universität Berlin Heubnerweg 6 D-1000 Berlin 19
Medical English Zweisprachige Texte zur Vorbereitung auf die klinische Auslandstätigkeit
Von Peter Gross Lt. Oberarzt in der Abteilung Innere Medizin und Nephrologie im Klinikum Steglitz, Berlin
1989. 223 Seiten, 9 Abbildungen DM 26,ISBN 3 13 726301 8
I
Medizinstudenten und Ärzten, die im englischsprachigen Ausland arbeiten wollen, hilft dieses Buch bei der Vorbereitung und "vor Ort": Parallel deutsch-englisch wird über die Besonderheiten des anglo-amerikanischen Krankenhauswesens (Krankenhaustypen, Stationsarbeiten, Patientenkontakt, akademische Titel und Maßeinheiten) informiert. Das Vokabular für Instrumente, körperliche Untersuchungen und die Dokumentation des Krankheitsverlaufs werden erklärt. Eine Auswahl "typischer Krankengeschichten" aus den medizinischen Fachgebieten ermöglicht die Wiederholung des Gelernten.
Thieme
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konventioneller Computertomographie und Kernspintomographie. Päd. Praxis 38 (1989) 483-512 22 Nellhaus, G., C. Haberland, B.]. Hill: Sturge-WeberDiseasewithbilateral intracranial calcifications at birth and unusual pathologic findings. Acta Neurol. Scand. 43 (1967) 314-347 23 Norman, M., W. C. Schoene: TheultrastructureofSturge-WeberDisease. Acta Neuropathol. (Berl) 37 (1977) 199-205 24 Poser, G. M., ]. M. Taveras: Cerebral angiography in encephalotrigeminal angiomatosis. Radiology 68 (1959) 327-336 25 Probst, F. P.: Vascular morphology and angiographic flow pattern in Sturge-Weber Angiomatosis: facts, thoughts and suggestion. Neuroradiology 20 (1980) 73-78 26 Powers, T. A., et al: Central nervous system lesions in pediatric patients Gd-DTPA-enhanced MR Imaging. Radiology 169 (1988) 723-726 27 Rappaport, Z. H.: Corpus callosum section in the treatment of intractable seizures in the Sturge-WeberSyndrome. Child's Nerv Syst. 4 (1988) 231232 28 Roach, E. S.: Diagnosis and management of neurocutaneous syndromes. Semin. Neurol. 9 (1988) 91-141 29 Rosen, 1., L. Salford, L. Starck: Sturge-Weber Disease - Neurophysiological evaluation of a case with secondary epileptogenesis, successfully treated with lobectomy. Neuropediatrics 15 (1984) 95-98 30 Segall, H. D.,]. Ahmadi,]. G. McComb, C. Zee, T. S. Becker, H. S. Han: Computed tomographic observations pertinent to intracranial venous thrombotic and occlusive disease in childhood. Radiology 143 (1982) 441-449
