sturge - weber - krabe syndrome ( sws ) , also known as encephalotrigeminalangiomatosis and named the forthfacomatosis , recall the names of the authors who first described it in its basic clinical , radiological , and anatomopathologicalaspects .
sturge - weber syndrome is a neurocuta - neoussyndrome , characterized by the association between facial port - wine hemangiomas in the trigeminal nerve distribution area and vascular malformation(s ) of the brain ( leptomeningealangioma ) with or without glaucoma .
although sws is a congenital disorder , which usually presents in infancy , occasionally neurological symptoms first present in adulthood .
most affected individuals do survive into adulthood with varying degrees of neurological impairment , including epilepsy , hemiparesis , visual field deficits , and cognitive impairments ranging from mild learning disabilities to severe deficits .
sws is a multisystem disorder that requires the neurologist to be aware of the possible endocrine , psychiatric , ophthalmological , and other medical issues that can arise and impact the neurological status of these patients .
seizures , stroke - like episodes , glaucoma , headache , and developmental delay are frequent associated features .
this study describes 14 subjects with sws who express various characteristics of the clinical spectrum of the syndrome .
our study reports 14 cases of sturge - weber disease , 6 male and 8 female patients , studied in follow up . we observed 10 cases since they presented seizures , and 4 cases for the presence of a severe picture of psychomotorial retardation . in 5 of 10 cases ,
present an extension of the angioma in other body parts , and , particularly in one case , the nevus extends itself on the whole left lower lateral aspect up to the foot , in another case it extends itself on the breech and on both lower limbs , in 2 other cases it extends itself on the dorsum and in the omphalic area . in table 1
we report the main features of the syndrome both described in literature and those observed and/or detected also by neurodiagnostic exams in our cases , i.e. brain computed axial tomography ( cat ) and nuclear magnetic resonance ( nmr ) in our cases .
each case with epilepsy has reached a good level of control of the crises without using any invasive therapy , and this has certainly slowed down the progressive course of the syndrome .
of course in these cases it is necessary , on the basis of the long survival of patients , to first give pharmacological and neuropsychomotor therapies , but also a psychotherapeutic support to patients .
it should be noted that the literature does not take psychotherapeutic support into consideration . in most cases ,
relationship difficultiesare highlightedon the basisofalow self - esteemthat can be related to anexperience of illnessthattends toisolatethesesubjects .
facialangiomacertainly hasled tothe emergence of aself - image characterized by depressive elements with features of self - depreciation that interfere also in one patient s work at school .
sturge weber syndrome ( sws ) , also called encephalotrigeminalangiomatosis , is a sporadically occurring neurocutaneoussyndrome , characterized by vascular malformation with capillary venous angiomas that involve face , choroid of eye and leptomeninges with resulting neurological and orbital manifestations .
as far as the nature of angiopathy is concerned , the vascular alterations is not an angioblastoma .
the prevalent orientation is to consider the alteration as a malformation that starts prematurely during intrauterine life .
the subarachnoid and choroid angiodysplasia , like the cutaneous one , is made by mature vessels , without any note of endothelial proliferation ; that explains why it is so resistant to the ionogetic radiation treatments with antiblastic chemotherapies , withglycoactive steroids .
the nevus of the face , evident already at the birth , has the color of port - wine , it is located in the orbital area , extending itself generally in the frontal area and also on the cheek in a distribution corresponding to the first and the second branch of trigeminus , exceptionally to the whole hemicorpo .
it can also be located in the oral cavum , in the pharynx , in the throat , in the tongue , inside the nose , on the eyelid conjunctiva , in the episclera , in the retrobulbar orbit causing proctosis with hipomobility of the bulb and through the orbital fissures ; and it can have endocranial development in the extradural site .
the lesion is flat , just palpable and it decolorizes onvitropression . over the years , a progressive development of the anomalous vascularity has been noted and the nevus becomes prominent , thicker , darker , mamelonated , and sometimes hypertrophic .
the leptomeningealangiomatosis is located mainly in the occipital areas and in occipital parietal areas of a cerebral hemisphere .
its structural and developing characteristics recall those of the red nevus ( it is also a progressive developing ectasiant capillary venous angiodysplasy ) . under the vascular mass
the cerebral tissue meets a gradual process of atrophy with a dilatation of the homolateralventriculum and increase insubarachnoid spaces .
the subintimal calcification of meningeal arteries is associated to the cerebral atrophy ; it extends gradually at the intima and at the media giving to the vessels the appearance of petrified tubes .
the calcification process takes place mainly in the intravascular parenchyma with accumulation , in the external layers of the cortex , of pulverized granules of calcium salts that form heaps which progressively increase and replace the cerebral tissue .
the calcium accumulations , absent at birth and exceptional in the newborn , are formed later .
they translate themselves into a peculiar radiological picture of the syndrome : the ring - shape calcifications , appearing with parallel spires , are 2 - 3 mm apart .
severe calcification in the affected hemisphere is related to severely decreased perfusion in underlying white matter and is associated with more severe epilepsy in sws patients .
the presence of cerebral calcifications , evident at cat and at mr has a negative prognostic meaning since it stresses the unavoidable and irreversible deterioration of the child s condition .
the direct visualization of the leptomeningealangioma is very inconstant with tomodensitometry or with arteriography ; the encephalon nmr reveals an atrophy and involvement of white mass and of the deep venous dilatations on sequences in t2 .
recently sequences have also been used in t1 after an injection of gadolinium in order to visualize the leptomeningeal angioma .
a congenital and hypsilateralangioma of the choroid can be present : this angioma can determine a light blue staining of the iris ( even in the case of the dark color of the other eye ) .
it is usually located at the posterior pole in the inter papillary macular area where a diskshapeunpigmented white - gray stain turns to red .
the structural and evolutive characteristics of this vascular anomaly recall those of the letangiectatic nevus the area of which is related to it .
the hypertension , acting in a phase of the development in which the structures of containment of the globe ( sclera and cornea ) are more pliable , causes exhaustion and then dilatation . the glaucoma can be present at birth with megophthalmo , megalocornea and other anomalies such as coloboma of iris , deformity of the lens , or it
ninety percent of cases present focal or generalized convulsions that often represent the onset of neurological symptoms and quite often these start during the first year of life .
the seizures , which at first can be of the jacksonian type , controlateral and later generalized , later become more and more frequent , and show little sensitivity to pharmacological treatment . the seizures are associated to controlateral hemiparesis . the first attacks are temporybut later become persistent with spastic alterations , disturbances of sensibility , deficit of limb growth of the hemiparetic side . moreover , they are associated to homonymous hemianopsia , a consequence of the angiomatosis location of the occipital lobe .
the outcome of hemispherectomy in pediatric patients is good for those with refractory epilepsies , such as west syndrome , lennox - gastaut syndrome , epileptic encephalopathy with continuous spikes and waves during slow sleep , and startle epilepsy arising from a hemispheric lesion associated with hemiplegia .
the aphasia is frequent and follows the seizural symptomatology revealing itself just the first one of them .
it has been noted in 80% of cases , sometimes in early infancy , other times after normal psychological development after the early infancy ; for this reason it has been called nevus amentia .
a significant quadratic relationship was found between iq and extent of severe ( but not total ) hypometabolism .
results suggest that intermediate size of severe hemispheric hypometabolism is associated with the worst cognitive outcomes , and small or absent lesions , with the best cognitive outcomes ; children in whom a very large extent of the hemisphere is severely affected are likely to have relatively preserved cognitive function .
nevertheless cognitive and fine motor functions are related to diffusion abnormalities in specific ipsilateral , mostly frontal , wm regions .
quaintness in behavior , hyperactivity , irritability , muddle , suicide and homicidal trends are frequent .
the most frequent diagnoses were mood disorder ( 31% ) , disruptive behavior disorder ( 25% ) , and adjustment disorder ( 25% ) .
a significant association was found between disruptive behavior disorder not otherwise specified and more left frontal and left parietal involvement . a trend toward significant association of having a seizure in the past three months with disruptive behavior disorder not otherwise specified was observed .
problems with mood , attention , sleep , learning , and substance use were common .
there are also symptoms related to infundibulum - hypophyseal deranged functioning ( growth disorder , acromegaly , insipid diabetes , adipositas , genital adipicdystrophia ) .
sturge - weber - krabe syndrome is a multisystem disorder that requires the neurologist to be aware of the possible endocrine , psychiatric , ophthalmological , and other medical issues that can arise and impact the neurological status of these patients .
two elements are interesting : the exceptional diffusion to the whole hemicorpo of the red nevous and the evaluation of the living patterns related to the disease that is not considered in literature . on the contrary
, this is an important factor since new pharmacological therapies can obtaina good control of the epilepsy and consequently an extension of life , and less deterioration of the patient s condition .
 sturge - weber - krabe syndrome ( sws ) , also known as encephalotrigeminalangiomatosis and named the forthfacomatosis , recall the names of the authors who first describedit in its basic clinical , radiological andanatomopathological aspects . 
 we report here 14 cases of sturge - weber disease . in 6 of these , despite what had been previously described in literature , an extension of the angioma has been noted in other parts of the body . 
 the study of these subjects stresses not only the need for a pharmacological / neuropsychomotor intervention , but alsothe need of a psychotherapeutic approach , for the emotional and affective implications thatcould derive from this syndrome . 
 the reported cases are similar to those presented in literature for their main features . 
 in particular , two elements are interesting : i ) the exceptional diffusion of the red nevousto the whole hemicorpo ; and ii ) the evaluation of the way the patients live the disease , which has not beenpreviously considered in literature . 
 we can conclude that sws is a multisystem disorder that requires the neurologist to be aware of the possible endocrine , psychiatric , ophthalmological , and other medical issues that can arise and impact on the neurological status of the patients . 
Introduction
Case Report
Discussion
Conclusions