Sturge-Weber syndrome: Difference between revisions

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{{CMG}}; {{AE}} {{JH}} {{Rina Ghorpade}}
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{{SK}} Encephalotrigeminal angiomatosis.
{{SK}} Encephalotrigeminal angiomatosis; dimitri disease; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; leptomeningeal angiomatosis; Sturge-Kalischer-Weber syndrome; Sturge-Weber-Krabbe syndrome; Sturge-Weber phakomatosis; SWS
 


==Overview==
==Overview==
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==Historical Perspective==
==Historical Perspective==
The term Sturge-Weber syndrome was coined by Professor Hilding Bergstrand in 1935 to acknowledge the work of two physicians, William Allen Sturge, and Parkes Weber. <ref name="pmid24275166">{{cite journal| author=Sudarsanam A, Ardern-Holmes SL| title=Sturge-Weber syndrome: from the past to the present. | journal=Eur J Paediatr Neurol | year= 2014 | volume= 18 | issue= 3 | pages= 257-66 | pmid=24275166 | doi=10.1016/j.ejpn.2013.10.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24275166  }} </ref> In 1879 William Allen Sturge noted a case of right sided facial lesion, [[ocular]] abnormalities, and [[neurological]] involvement in a six and half year old female. He later named this facial lesion as a [[port wine stain]]. In 1922, Parkes Weber, described the radiogical features of a 22 year old woman with left sided [[vascular]] lesion on of her trunk, with right sided [[congenital]] [[spastic]] [[hemiplegia]].<ref name="pmid21611493">{{cite journal| author=Weber FP| title=RIGHT-SIDED HEMI-HYPOTROPHY RESULTING FROM RIGHT-SIDED CONGENITAL SPASTIC HEMIPLEGIA, WITH A MORBID CONDITION OF THE LEFT SIDE OF THE BRAIN, REVEALED BY RADIOGRAMS. | journal=J Neurol Psychopathol | year= 1922 | volume= 3 | issue= 10 | pages= 134-9 | pmid=21611493 | doi=10.1136/jnnp.s1-3.10.134 | pmc=1068054 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21611493 }} </ref>
The term Sturge-Weber syndrome was coined by Professor Hilding Bergstrand in 1935 to acknowledge the work of two physicians, William Allen Sturge, and Parkes Weber. In 1879 William Allen Sturge noted a case of right sided facial lesion, [[ocular]] abnormalities, and [[neurological]] involvement in a six and half year old female. He later named this facial lesion as a [[port wine stain]]. In 1922, Parkes Weber, described the radiogical features of a brain lesion in a twenty-two year old woman with left sided [[vascular]] lesion on of her trunk, with right sided [[congenital]] [[spastic]] [[hemiplegia]].<ref name="pmid21611493">{{cite journal| author=Weber FP| title=RIGHT-SIDED HEMI-HYPOTROPHY RESULTING FROM RIGHT-SIDED CONGENITAL SPASTIC HEMIPLEGIA, WITH A MORBID CONDITION OF THE LEFT SIDE OF THE BRAIN, REVEALED BY RADIOGRAMS. | journal=J Neurol Psychopathol | year= 1922 | volume= 3 | issue= 10 | pages= 134-9 | pmid=21611493 | doi=10.1136/jnnp.s1-3.10.134 | pmc=1068054 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21611493  }} </ref> <ref name="pmid24275166">{{cite journal| author=Sudarsanam A, Ardern-Holmes SL| title=Sturge-Weber syndrome: from the past to the present. | journal=Eur J Paediatr Neurol | year= 2014 | volume= 18 | issue= 3 | pages= 257-66 | pmid=24275166 | doi=10.1016/j.ejpn.2013.10.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24275166  }} </ref>
 
==Classification==
[[Encephalotrigeminal angiomatosis]] may be classified according to [[facial]] and [[leptomeningeal]] involvement into three subtypes by using Roach Scale. <ref name="pmid29083797">{{cite journal |vauthors=Singh AK, Keenaghan M |title= |journal= |volume= |issue= |pages= |date= |pmid=29083797 |doi= |url=}}</ref>
 
Type I: Classic Sturge-Weber syndrome that involves both [[facial]], and [[leptomeningeal]] involvement, may have [[glaucoma]].
 
Type II: Only facial [[angiomatosis]] with no [[CNS]] involvement, may have [[glaucoma]].
 
Type III: Only [[CNS]] involvement, and no [[glaucoma]].
 
==Pathophysiology==
The cause of SWS is [[somatic]] mosaic [[mutations]] in the [[GNAQ]] gene. The [[GNAQ]] gene is located on the [[long arm]] of [[chromosome]] number 9, at the position 21.2, and comprise of 7 [[exons]]. The function of this [[gene]] is to produce a [[protein]] called [[guanine]] [[nucleotide]]-binding protein [[G-alpha-q]], which functions to regulate [[intracellular signaling pathways]] to help regulate the structure and functions of [[blood vessels]].
The [[somatic mutation]] in this [[gene]] (mutation that is occurring after conception and which is not inherited) replaces the [[amino acid]] [[arginine]] with the [[amino acid]] [[glutamine]] at position 183 in the [[G-alfa-q]] protein.
This [[mutation]] specifically affects the [[cell]] responsible for [[angiogenesis]] in [[brain]], [[skin]] and [[eyes]].
Other [[somatic mutation]] in [[GNAQ]] gene is responsible for the development of [[uveal melanoma]], however, patients with SWS are not at high risk for the development of [[uveal melanoma]].
 
On gross pathological examination, the [[leptomeninges]] looks thickened and the leptomeningeal vessels show dilatations and tortuosities. These vessels in [[leptomeninges]] show overexpression of [[Fibronectin]] and Vascular Endothelial Growth Factors [[(VEGF)]].<ref name="pmid17204940">{{cite journal| author=Comati A, Beck H, Halliday W, Snipes GJ, Plate KH, Acker T| title=Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge-Weber syndrome. | journal=J Neuropathol Exp Neurol | year= 2007 | volume= 66 | issue= 1 | pages= 86-97 | pmid=17204940 | doi=10.1097/nen.0b013e31802d9011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17204940  }} </ref>
 
On microscopic histopathological analysis of brain tissues show, [[intracranial calcification]], [[gliosis]], [[hypoplastic]] blood vessels, and loss of [[neurons]]. It is hypothesized that the hypoxic injury to the [[endothelial cells]] can lead to the breakdown of [[blood-brain barrier]] and can cause [[intracranial calcification]].
<ref name="pmid21712663">{{cite journal| author=Comi AM| title=Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. | journal=Neurologist | year= 2011 | volume= 17 | issue= 4 | pages= 179-84 | pmid=21712663 | doi=10.1097/NRL.0b013e318220c5b6 | pmc=4487915 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21712663  }} </ref>
==Causes==
 
==Clinical Features==
===Neurological manifestations===
SWS is characterized by the formation of [[leptomeningeal]] capillary-venous malformation or [[angioma]], which can cause various [[neurological]] [[symptoms]] such as [[seizures]], [[stroke]], [[Intellectual disability|intellectual disabilities]], and [[behavioral]] issues. Intracranial [[angioma]]<nowiki/>s occur on the same facial [[port-wine stain]], it usually involves [[occipital]] and [[parietal]] lobes.<ref name="pmid24275166">{{cite journal| author=Sudarsanam A, Ardern-Holmes SL| title=Sturge-Weber syndrome: from the past to the present. | journal=Eur J Paediatr Neurol | year= 2014 | volume= 18 | issue= 3 | pages= 257-66 | pmid=24275166 | doi=10.1016/j.ejpn.2013.10.003 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24275166  }} </ref>
 
* '''Seizures'''
 
[[Seizures]] is the most common [[symptom]] of SWS seen in 75-90% of [[patient]]<nowiki/>s
, and it is often the first presentation. The [[age]] of onset of [[seizures]] is usually in early [[childhood]], but it can occur at any [[age]]. The risk of [[seizures]] is high with a [[bilateral]] [[port-wine stain]] that [[unilateral]] [[port-wine stain]].<ref name="pmid7769179">{{cite journal| author=Sujansky E, Conradi S| title=Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. | journal=J Child Neurol | year= 1995 | volume= 10 | issue= 1 | pages= 49-58 | pmid=7769179 | doi=10.1177/088307389501000113 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7769179  }} </ref>
At first, [[seizures]] are [[focal]], but later in the course can turn into generalized [[tonic-clonic seizures]]. Rarely, a small subgroup of [[patient]]<nowiki/>s can present with [[infantile spasm]] and [[Atonic seizure|atonic seizures]].
 
* '''Stroke like episodes'''
 
Possibly chronic [[hypoxia]]-induced injury in [[leptomeningeal]] [[blood vessels]] leads to [[stroke]]-like events. They occur in 25-60% of [[patient]]<nowiki/>s with SWS. These [[stroke]]-like episodes occur concurrently with the [[seizures]] and can lead to [[hemiparesis]]. [[Hemiparesis]] usually occur [[contralateral]] to the [[brain]] lesions. [[Children]] are more prone to develop these [[stroke]]-like episodes due to repeated falls and minor [[head]] injuries.<ref name="pmid17718827">{{cite journal| author=Zolkipli Z, Aylett S, Rankin PM, Neville BG| title=Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome. | journal=Dev Med Child Neurol | year= 2007 | volume= 49 | issue= 9 | pages= 697-9 | pmid=17718827 | doi=10.1111/j.1469-8749.2007.00697.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17718827  }} </ref>.
 
* '''Cognitive impairment'''
 
[[Cognitive impairment]] in the form of delayed [[neuropsychological]] development occur in 50-60% [[patient]]<nowiki/>s with SWS, and it may range from mild [[attention deficit]] to severe deterioration in the [[Mental Health|mental capacity]]. Early-onset of [[seizures]] is associated with the high risk of developing severe forms of [[cognitive impairment]].<ref name="pmid7769179">{{cite journal| author=Sujansky E, Conradi S| title=Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. | journal=J Child Neurol | year= 1995 | volume= 10 | issue= 1 | pages= 49-58 | pmid=7769179 | doi=10.1177/088307389501000113 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7769179  }} </ref>. Other [[behavioral problems]] associated with SWS are [[autism spectrum disorder]], [[Social communication disorder|social communication difficulties]]. <ref name="pmid30195931">{{cite journal| author=Gittins S, Steel D, Brunklaus A, Newsom-Davis I, Hawkins C, Aylett SE| title=Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. | journal=Epilepsy Behav | year= 2018 | volume= 88 | issue=  | pages= 1-4 | pmid=30195931 | doi=10.1016/j.yebeh.2018.08.006 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30195931  }} </ref>.
Adults with normal [[cognitive function]] usually have [[depression]], while aggression and self-destructive behavior occur in [[Intellectual disability|intellectually impaired]] adults.<ref name="pmid21712663">{{cite journal| author=Comi AM| title=Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. | journal=Neurologist | year= 2011 | volume= 17 | issue= 4 | pages= 179-84 | pmid=21712663 | doi=10.1097/NRL.0b013e318220c5b6 | pmc=4487915 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21712663 }} </ref>
 
* '''Migraine like headaches'''


[[Headaches]] are very common [[symptoms]] of SWS ''Kossoff et al''. reported the [[headaches]] can be as debilitating as [[seizures]], the median [[age]] of onset of [[headache]] is 8. They also reported that the [[patient]]<nowiki/>s with a [[family history]] of [[headaches]] have an earlier age at onset of [[headache]]. <ref name="pmid16225815">{{cite journal| author=Kossoff EH, Hatfield LA, Ball KL, Comi AM| title=Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome.| journal=J Child Neurol | year= 2005 | volume= 20 | issue= 8 | pages= 678-82 | pmid=16225815 | doi=10.1177/08830738050200080901 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16225815  }} </ref>


* '''Neuroendocrine problems'''


A retrospective study conducted by ''Miller et al''. concluded that the [[prevalence]] of the [[growth hormone deficiency]] is 18 fold higher than that of the general [[population]].<ref name="pmid16551788">{{cite journal| author=Miller RS, Ball KL, Comi AM, Germain-Lee EL| title=Growth hormone deficiency in Sturge-Weber syndrome. | journal=Arch Dis Child | year= 2006 | volume= 91 | issue= 4 | pages= 340-1 | pmid=16551788 | doi=10.1136/adc.2005.082578 | pmc=2065976 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16551788  }} </ref> The etiology of [[growth hormone deficiency]] in SWS is not well understood, interestingly, there is [[radiological]] undetectable structural damage to the [[pituitary gland]].
There is a higher [[incidence]] of central [[hypothyroidism]] in [[patient]]<nowiki/>s with SWS, due to an aberration in [[Hypothalamic-pituitary-adrenal axis|hypothalamic-pituitary axis]] resulting from [[neuronal]] abnormalities. <ref name="pmid18555176">{{cite journal| author=Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL| title=Central hypothyroidism and Sturge-Weber syndrome. | journal=Pediatr Neurol | year= 2008 | volume= 39 | issue= 1 | pages= 58-62 | pmid=18555176 | doi=10.1016/j.pediatrneurol.2008.03.018 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18555176  }} </ref>
Therefore, [[patient]]<nowiki/>s with SWS should undergo [[Screening test|screening tests]] such as [[thyroid function tests]] for central [[hypothyroidism]] and [[insulin-like growth factor-1]] levels ([[IGF-1]]) to detect [[growth hormone deficiency]].


===Opthalmological issues===


== Diagnosis ==
* '''Glaucoma'''


==Physical examination==
[[File:Congenital glaucoma.PNG|200px|thumb|left|Congenial Glaucoma]]It is the most common [[ocular]] manifestation of SWS, and [[glaucoma]] occurs in nearly 70% of [[patient]]<nowiki/>s with SWS.<ref name="pmid1287171">{{cite journal| author=Sullivan TJ, Clarke MP, Morin JD| title=The ocular manifestations of the Sturge-Weber syndrome. | journal=J Pediatr Ophthalmol Strabismus | year= 1992 | volume= 29 | issue= 6 | pages= 349-56 | pmid=1287171 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1287171  }} </ref> Usually [[glaucoma]] occurs ispilateral to the [[port-wine stain]]. The mechanism of [[pathogenesis]] of [[glaucoma]] are abnormality of an angle of [[anterior chamber]] which increases the resistance to the flow of [[aqueous humor]], and higher venous pressure in [[Episclera|episcleral]] [[veins]] due to formation of [[Arteriovenous Malformation|arteriovenous malformations]] especially in [[patient]]<nowiki/>s with [[episclera]]<nowiki/>l [[hemangioma]].<ref name="AbdolrahimzadehScavella2015">{{cite journal|last1=Abdolrahimzadeh|first1=Solmaz|last2=Scavella|first2=Vittorio|last3=Felli|first3=Lorenzo|last4=Cruciani|first4=Filippo|last5=Contestabile|first5=Maria Teresa|last6=Recupero|first6=Santi Maria|title=Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?|journal=BioMed Research International|volume=2015|year=2015|pages=1–11|issn=2314-6133|doi=10.1155/2015/786519}}</ref>
Nearly 50% of [[patient]]<nowiki/>s with SWS present with [[buphthalmos]] (enlargement of an [[eye]] globe in [[newborns]]), and the risk of afflicted [[glaucoma]] is the highest in the first decade of life.


===Gallery===


====Skin====


=====Head=====
[[File:Bilateral-buphthalmos.jpg|200px|thumb|left|Bilateral Buphthalmos: www.researchgate.net/publication/274273886_Pediatric_glaucoma_current_perspectives/figures?lo=1]]


<gallery>


Image: Sturge_weber_syndrome_01.png| Sturge weber syndrome.. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=437>


</gallery>
* '''Other Ocular Manifestations'''


=== Symptoms ===
[[Choroidal]] [[hemangioma]] present in nearly 50% of [[patient]]<nowiki/>s with SWS. Other [[ophthalmological]] problems in [[patient]]<nowiki/>s with SWS are [[retinal detachment]], [[Heterochromia iridis|heterochromia iridium]], and [[strabismus]].


Sturge-Weber syndrome is indicated at birth by [[seizure]]s accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face.  The birthmark can vary in color from light pink to deep purple, and is caused by an overabundance of [[capillary|capillaries]] around the ophthalmic branch of the [[trigeminal nerve]], just beneath the surface of the face. There is also malformation of blood vessels in the [[pia mater]] overlying the brain, on the same side of the head as the birthmark. This causes [[calcification]] of tissue and loss of nerve cells in the [[cerebral cortex]]. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark, and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and [[mental retardation]]; most will have [[glaucoma]] (increased pressure within the eye), which can be present at birth or develop later. Increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket ([[buphthalmos]]). Sturge-Weber syndrome rarely affects other body organs.


===MRI===


([http://www.radswiki.net Images courtesy of RadsWiki])
===Port Wine Stain (PWS)===
[[Port-wine stain]]<nowiki/>s are [[capillary malformations]] and are the most common [[skin]] manifestation of SWS. They are present at [[birth]], usually occur on one side of the [[face]], although these lesions can occur [[bilaterally]]. At birth, these stains are pink in color, however, the appearance of these stains changes with time, they grow dark red with increasing age. These lesions appear nodular and thick due to the dilatation of superficial vessels. PWS follows the distribution of three [[sensory]] divisions of [[trigeminal nerve]], V1 the [[frontal branch]], V2 the [[maxillary branch]], and V3 the [[mandibular branch]]. In SWS the [[port-wine stains]] usually occur on the [[forehead]], [[upper eyelid]].<ref name="pmid29083716">{{cite journal |vauthors=Kolb L, Krishnamurthy K |title= |journal= |volume= |issue= |pages= |date= |pmid=29083716 |doi= |url=}}</ref><ref name="pmid29083797">{{cite journal |vauthors=Singh AK, Keenaghan M |title= |journal= |volume= |issue= |pages= |date= |pmid=29083797 |doi= |url=}}</ref>


<gallery>
[[File:SWS.PNG|250px|thumb|left|Port wine stain on right forhead and right upper eyelid]]
Image:Sturge-weber-003.jpg|Sturge-Weber syndrome
[[Port-wine stains]] are often misdiagnosed as a salmon patch or [[Nevus simplex]] or [[infantile hemangioma]].
Image:Sturge-weber-004.jpg|Sturge-Weber syndrome
 
Image:Sturge-weber-005.jpg|Sturge-Weber syndrome
The following table distinguishes the common differential diagnosis of the [[port-wine stains]].
Image:Sturge-weber-006.jpg|Sturge-Weber syndrome
 
Image:Sturge-weber-007.jpg|Sturge-Weber syndrome
<br />
</gallery>
{| class="wikitable"
|+
!Features
!Port-wine stain
!Salmon patch
!Infantile hemangioma
|-
|Other names
|Nevus flammeus
|
* Navus simplex
* Stroke bite
* Angle kiss
* Macular stain
|Hemangioma
|-
|Pathology
|Capillary malformation
|Capillary malformation
|Vasular tumors
|-
|Color
|
* Pink to dark red
* Non-blanchable
|
* Pink-red patches
* Blanchable
|
* Bright red
* Raised plaques
|-
|Distribution
|
* Respects midline
* Occurs on one side of the face
|
* Eyelid
* Glabella
* Nape of the nack
* Scalp
* Lips
|Can occur anywhere in the skin, mucous
membrane, or internal organs.
|-
|Age at presentation
|Present at birth
|Present at birth
|Not present at birth, but usually occur within a few months of life.
|-
|Progression
|
* Do not regress
* Become darker with age
|
* Regresses within two years of life
* Lesions on the back of the neck may persist
|Proliferation phase followed by involution
|-
|Association
|
* Sturge-Weber syndrome
* Klippel-Trenaunay syndrome
|
* Spinal dysraphism,
* Beckwith-Wiedemann syndrome
|PHACE syndrome
 
 
[P: Posterior fossa brain malformation
 
H: Hemangiomas
 
A: Arterial abnormalities
 
C: Cardiac anomalies, coarctation of the aorta
 
E: Endocrine and eye abnoramlities]
|-
|
|
|
|
|}
 
==Differentiating SWS from other disorders==
The following disorders should be included in the differential diagnosis of SWS.
 
1) [[Klippel-Trenaunay-Weber syndrome]] is also a sporadic congenital disorder, this syndrome is characterized by [[Port-wine stain]] mostly on lower extremities, and hemihypertrophy of soft tissues. This syndrome rarely co-occurs with SWS.<ref name="pmid28782176">{{cite journal| author=Sakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K| title=Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 10 | pages= 2831-2833 | pmid=28782176 | doi=10.1002/ajmg.a.38363 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28782176  }} </ref>
 
2) [[Beckwith-Wiedemann syndrome]] this syndrome is characterized by facial [[Port-wine stain]], macroglossia, and hemihypertrophy.
 
 
==Epidemiology and Demographics==
The incidence of SWS according to the National Organization for Rare Disorders is approximately 1 in 20,000-50,000 live births.
There is no documented sex or racial predilection found in the literature.
 
 
===Risk Factors===
 
Currently, SWS may be suspected in infants born with facial [[Port-wine stain]] particularly of the upper eyelid. Usually, 10-50% of newborns born with facial PWS have brain involvement. The risk of brain involvement is higher when facial [[Port-wine stains|Port-wine stain]] are bilateral.
 
 
==Natural history, complication, and prognosis==
The natural history of SWS is unpredictable, some patients have unmanagable seizures, while others do well. 
===Complications===
 
Common complications of SWS include [[epilepsy]], untreated [[glaucoma]] can cause [[vision loss]], [[developmental delay]], [[growth hormone deficiency ]], and [[hypothyroidism]].
 
===Prognosis===
The prognosis of SWS depends on the following factors
 
1) Age at the onset of seizures: Earlier onset of seizures indicates a poorer prognosis and higher risk of neurological problems.
 
2) The extent of involvement of skin: Extensive involvement of skin indicates the poor prognosis.
 
3) The extent of involvement of the brain: Bilateral brain involvement indicates a high risk of development of [[learning disorders]] and [[intellectual disability]].<ref name="pmid0853154">{{cite journal| author=Bloom PJ| title=Determination of monaural sensitivity changes due to the pinna by use of minimum-audible-field measurements in the lateral vertical plane. | journal=J Acoust Soc Am | year= 1977 | volume= 61 | issue= 3 | pages= 820-8 | pmid=0853154 | doi=10.1121/1.381346 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=853154  }} </ref>
==Diagnosis==
 
SWS should be suspected in infants with [[Port-wine stain]] on the forehead and upper eyelid. To confirm the diagnosis of SWS the [[ophthalmological examination]] and the [[MRI with contrast]] should be performed.
 
===Physical Examination===
 
Physical examination may be remarkable for:
 
* [[Port-wine stain]]
* [[Buphtalmos]]
* [[Iris heterochromia]]
* [[Hemiparesis]]
* [[Soft tissue hypertrophy]]
 
===Laboratory Findings===
There are no specific laboratory findings associated with SWS.
 
===Imaging Findings===
 
[[MRI with gadolinium contrast]] is the imaging modality of choice for SWS.
, which can demonstrate the presence of [[leptomeningeal]] capillary malformations. It can also show the extent of [[brain]] involvement.
The axial MRI below shows the volume loss in the left [[parietal]] and [[occipital]] lobes.
 
[[File:Sturge-weber-MRI.jpg|200px|thumb|center]]
 
[[CT scan]] of the brain may be indicated in [[Emergency room]] to evaluate children presenting with [[seizures]].  It may demonstrate [[calcifications]], loss of volume, [[enlarged ventricles]], and tam track sign. The image below shows subcortical calcification seen in the region of left parietal and occipital lobes accompanied by parenchymal volume loss.
 
[[File:Sturge-weber-syndrome-CT.jpg|200px|center|left]]


==Treatment==
==Treatment==
Treatment for Sturge-Weber syndrome is symptomatic. [[Laser surgery|Laser]] treatment may be used to lighten or remove the birthmark. [[Anticonvulsant]] medications may be used to control seizures. Doctors recommend yearly monitoring for glaucoma, and surgery may be performed on more serious cases. [[Physical therapy]] should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays, but there is no complete treatment for the delays.
There is no specific treatment available for SWS.  
Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures experienced so that the patient has only a few seizures that much less intnse than pre-surgery. One of the hospitals that has successfully completed this procedure is Shands at the University of Florida.
===Seizures===
[[Antiepileptics]] are the mainstay of the management of seizures associated with SWS. The most commonly used [[antiepileptics]] are [[phenobarbital]], [[carbamazepine]], [[oxcarbazepine]], and [[levetiracetam]]. [[Carbamazepine]] and [[oxcarbazpine]] associated with the better [[seizure]] control than [[levetiracetam]]. <ref name="pmid26997037">{{cite journal| author=Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M | display-authors=etal| title=Anticonvulsant Efficacy in Sturge-Weber Syndrome. | journal=Pediatr Neurol | year= 2016 | volume= 58 | issue=  | pages= 31-6 | pmid=26997037 | doi=10.1016/j.pediatrneurol.2015.10.015 | pmc=4943018 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26997037  }} </ref>
In untreated cases of intractable seizures surgery is indicated, through [[hemispherectomy]], [[lobectomy]] or transection of [[corpus callosum]].
===Port-wine stain===
For the facial [[Port-wine stain]] the treatment with [[pulsed dye laser]] is the treatment of choice.<ref name="pmid16877924">{{cite journal| author=Alster TS, Railan D| title=Laser treatment of vascular birthmarks. | journal=J Craniofac Surg | year= 2006 | volume= 17 | issue= 4 | pages= 720-3 | pmid=16877924 | doi=10.1097/00001665-200607000-00023 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16877924  }} </ref>.
===Glaucoma===
The early-onset [[glaucoma]] can be treated with surgical methods like [[trabeculectomy]] or [[geniotomy]]. For the late-onset [[glaucoma]] the topical [[medications]] to lower the [[intraocular pressure]] are used. In newborns with a high risk of development of [[glaucoma]] should have an [[ophthalmological]] check-up every 3 months for the first year of life, and then annually throughout the life of an individual.
 
[[Patients]] with [[cognitive deficits]] may benefit from [[behavioral psychology]].
 
===Prevention===


==Prognosis==
There are no primary preventive measures available for SWS.
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life.  There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.


==Eponym==
The patients diagnosed with SWS should be started on the antiepileptic before the first [[seizure]] especially in those with extensive leptomeningeal involvement, the prophylactic use of antiepiletics may decrease the risk of [[cognitive impairment]].<ref name="pmid26997037">{{cite journal| author=Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M | display-authors=etal| title=Anticonvulsant Efficacy in Sturge-Weber Syndrome. | journal=Pediatr Neurol | year= 2016 | volume= 58 | issue=  | pages= 31-6 | pmid=26997037 | doi=10.1016/j.pediatrneurol.2015.10.015 | pmc=4943018 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26997037  }} </ref>.  
It is named for William Sturge and [[Frederick Parkes Weber]].<ref>{{WhoNamedIt|synd|1764}}</ref><ref>W. A. Sturge. A case of partial epilepsy, apparently due to a lesion of one of the vasomotor centres of the brain. Transactions of the Clinical Society of London, 1879, 12: 162. </ref><ref>F. P. Weber. Right-sided hemi-hypertrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain, revealed by radiograms. Journal of Neurology and Psychopathology, London, 1922, 3: 134-139. </ref>
Low-dose [[aspirin]] 3-5 mg/kg/day can be used to in all children diagnosed with SWS to lower the risk of [[hypoxic-ischemic]] neuronal injury, as [[aspirin]] has antithrombotic effects.<ref name="pmid23112247">{{cite journal| author=Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM| title=Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. | journal=J Child Neurol | year= 2013 | volume= 28 | issue= 2 | pages= 213-8 | pmid=23112247 | doi=10.1177/0883073812463607 | pmc=4373084 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23112247  }} </ref>


==References==
==References==

Latest revision as of 15:11, 2 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Jesus Rosario Hernandez, M.D. [2] Rina Ghorpade, M.B.B.S[3]

Synonyms and keywords: Encephalotrigeminal angiomatosis; dimitri disease; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; leptomeningeal angiomatosis; Sturge-Kalischer-Weber syndrome; Sturge-Weber-Krabbe syndrome; Sturge-Weber phakomatosis; SWS


Overview

Sturge-Weber syndrome(SWS), sometimes referred to as encephalotrigeminal angiomatosis, is an extremely rare congenital neurological and skin disorder. It is one of the phakomatoses, and is often associated with port-wine stains of the face, which is a capillary malformation, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is caused by an arteriovenous malformation that occurs in the cerebrum of the brain on the same side as the physical signs described above. Normally, only one side of the head is affected. It is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber does not have a hereditary tendency but occurs sporadically. The diagnosis of SWS is established with neuroimaging techniques such as MRI with contrast, which shows the presence of leptomeningeal malformations in the brain. Treatment of this is symptomatic such as seizures are treated with anti-epileptic medications, ocular symptoms are managed with surgical modalities, and skin manifestations are treated with the laser. Prognosis of SWS is dependent on the age of onset of seizures, the extent of the brain, and dermatological involvement.

Historical Perspective

The term Sturge-Weber syndrome was coined by Professor Hilding Bergstrand in 1935 to acknowledge the work of two physicians, William Allen Sturge, and Parkes Weber. In 1879 William Allen Sturge noted a case of right sided facial lesion, ocular abnormalities, and neurological involvement in a six and half year old female. He later named this facial lesion as a port wine stain. In 1922, Parkes Weber, described the radiogical features of a brain lesion in a twenty-two year old woman with left sided vascular lesion on of her trunk, with right sided congenital spastic hemiplegia.[1] [2]

Classification

Encephalotrigeminal angiomatosis may be classified according to facial and leptomeningeal involvement into three subtypes by using Roach Scale. [3]

Type I: Classic Sturge-Weber syndrome that involves both facial, and leptomeningeal involvement, may have glaucoma.

Type II: Only facial angiomatosis with no CNS involvement, may have glaucoma.

Type III: Only CNS involvement, and no glaucoma.

Pathophysiology

The cause of SWS is somatic mosaic mutations in the GNAQ gene. The GNAQ gene is located on the long arm of chromosome number 9, at the position 21.2, and comprise of 7 exons. The function of this gene is to produce a protein called guanine nucleotide-binding protein G-alpha-q, which functions to regulate intracellular signaling pathways to help regulate the structure and functions of blood vessels. The somatic mutation in this gene (mutation that is occurring after conception and which is not inherited) replaces the amino acid arginine with the amino acid glutamine at position 183 in the G-alfa-q protein. This mutation specifically affects the cell responsible for angiogenesis in brain, skin and eyes. Other somatic mutation in GNAQ gene is responsible for the development of uveal melanoma, however, patients with SWS are not at high risk for the development of uveal melanoma.

On gross pathological examination, the leptomeninges looks thickened and the leptomeningeal vessels show dilatations and tortuosities. These vessels in leptomeninges show overexpression of Fibronectin and Vascular Endothelial Growth Factors (VEGF).[4]

On microscopic histopathological analysis of brain tissues show, intracranial calcification, gliosis, hypoplastic blood vessels, and loss of neurons. It is hypothesized that the hypoxic injury to the endothelial cells can lead to the breakdown of blood-brain barrier and can cause intracranial calcification. [5]

Causes

Clinical Features

Neurological manifestations

SWS is characterized by the formation of leptomeningeal capillary-venous malformation or angioma, which can cause various neurological symptoms such as seizures, stroke, intellectual disabilities, and behavioral issues. Intracranial angiomas occur on the same facial port-wine stain, it usually involves occipital and parietal lobes.[2]

  • Seizures

Seizures is the most common symptom of SWS seen in 75-90% of patients , and it is often the first presentation. The age of onset of seizures is usually in early childhood, but it can occur at any age. The risk of seizures is high with a bilateral port-wine stain that unilateral port-wine stain.[6] At first, seizures are focal, but later in the course can turn into generalized tonic-clonic seizures. Rarely, a small subgroup of patients can present with infantile spasm and atonic seizures.

  • Stroke like episodes

Possibly chronic hypoxia-induced injury in leptomeningeal blood vessels leads to stroke-like events. They occur in 25-60% of patients with SWS. These stroke-like episodes occur concurrently with the seizures and can lead to hemiparesis. Hemiparesis usually occur contralateral to the brain lesions. Children are more prone to develop these stroke-like episodes due to repeated falls and minor head injuries.[7].

  • Cognitive impairment

Cognitive impairment in the form of delayed neuropsychological development occur in 50-60% patients with SWS, and it may range from mild attention deficit to severe deterioration in the mental capacity. Early-onset of seizures is associated with the high risk of developing severe forms of cognitive impairment.[6]. Other behavioral problems associated with SWS are autism spectrum disorder, social communication difficulties. [8]. Adults with normal cognitive function usually have depression, while aggression and self-destructive behavior occur in intellectually impaired adults.[5]

  • Migraine like headaches

Headaches are very common symptoms of SWS Kossoff et al. reported the headaches can be as debilitating as seizures, the median age of onset of headache is 8. They also reported that the patients with a family history of headaches have an earlier age at onset of headache. [9]

  • Neuroendocrine problems

A retrospective study conducted by Miller et al. concluded that the prevalence of the growth hormone deficiency is 18 fold higher than that of the general population.[10] The etiology of growth hormone deficiency in SWS is not well understood, interestingly, there is radiological undetectable structural damage to the pituitary gland. There is a higher incidence of central hypothyroidism in patients with SWS, due to an aberration in hypothalamic-pituitary axis resulting from neuronal abnormalities. [11] Therefore, patients with SWS should undergo screening tests such as thyroid function tests for central hypothyroidism and insulin-like growth factor-1 levels (IGF-1) to detect growth hormone deficiency.

Opthalmological issues

  • Glaucoma
Congenial Glaucoma

It is the most common ocular manifestation of SWS, and glaucoma occurs in nearly 70% of patients with SWS.[12] Usually glaucoma occurs ispilateral to the port-wine stain. The mechanism of pathogenesis of glaucoma are abnormality of an angle of anterior chamber which increases the resistance to the flow of aqueous humor, and higher venous pressure in episcleral veins due to formation of arteriovenous malformations especially in patients with episcleral hemangioma.[13]

Nearly 50% of patients with SWS present with buphthalmos (enlargement of an eye globe in newborns), and the risk of afflicted glaucoma is the highest in the first decade of life.


Bilateral Buphthalmos: www.researchgate.net/publication/274273886_Pediatric_glaucoma_current_perspectives/figures?lo=1


  • Other Ocular Manifestations

Choroidal hemangioma present in nearly 50% of patients with SWS. Other ophthalmological problems in patients with SWS are retinal detachment, heterochromia iridium, and strabismus.


Port Wine Stain (PWS)

Port-wine stains are capillary malformations and are the most common skin manifestation of SWS. They are present at birth, usually occur on one side of the face, although these lesions can occur bilaterally. At birth, these stains are pink in color, however, the appearance of these stains changes with time, they grow dark red with increasing age. These lesions appear nodular and thick due to the dilatation of superficial vessels. PWS follows the distribution of three sensory divisions of trigeminal nerve, V1 the frontal branch, V2 the maxillary branch, and V3 the mandibular branch. In SWS the port-wine stains usually occur on the forehead, upper eyelid.[14][3]

Port wine stain on right forhead and right upper eyelid

Port-wine stains are often misdiagnosed as a salmon patch or Nevus simplex or infantile hemangioma.

The following table distinguishes the common differential diagnosis of the port-wine stains.


Features Port-wine stain Salmon patch Infantile hemangioma
Other names Nevus flammeus
  • Navus simplex
  • Stroke bite
  • Angle kiss
  • Macular stain
Hemangioma
Pathology Capillary malformation Capillary malformation Vasular tumors
Color
  • Pink to dark red
  • Non-blanchable
  • Pink-red patches
  • Blanchable
  • Bright red
  • Raised plaques
Distribution
  • Respects midline
  • Occurs on one side of the face
  • Eyelid
  • Glabella
  • Nape of the nack
  • Scalp
  • Lips
Can occur anywhere in the skin, mucous

membrane, or internal organs.

Age at presentation Present at birth Present at birth Not present at birth, but usually occur within a few months of life.
Progression
  • Do not regress
  • Become darker with age
  • Regresses within two years of life
  • Lesions on the back of the neck may persist
Proliferation phase followed by involution
Association
  • Sturge-Weber syndrome
  • Klippel-Trenaunay syndrome
  • Spinal dysraphism,
  • Beckwith-Wiedemann syndrome
PHACE syndrome


[P: Posterior fossa brain malformation

H: Hemangiomas

A: Arterial abnormalities

C: Cardiac anomalies, coarctation of the aorta

E: Endocrine and eye abnoramlities]

Differentiating SWS from other disorders

The following disorders should be included in the differential diagnosis of SWS.

1) Klippel-Trenaunay-Weber syndrome is also a sporadic congenital disorder, this syndrome is characterized by Port-wine stain mostly on lower extremities, and hemihypertrophy of soft tissues. This syndrome rarely co-occurs with SWS.[15]

2) Beckwith-Wiedemann syndrome this syndrome is characterized by facial Port-wine stain, macroglossia, and hemihypertrophy.


Epidemiology and Demographics

The incidence of SWS according to the National Organization for Rare Disorders is approximately 1 in 20,000-50,000 live births. There is no documented sex or racial predilection found in the literature.


Risk Factors

Currently, SWS may be suspected in infants born with facial Port-wine stain particularly of the upper eyelid. Usually, 10-50% of newborns born with facial PWS have brain involvement. The risk of brain involvement is higher when facial Port-wine stain are bilateral.


Natural history, complication, and prognosis

The natural history of SWS is unpredictable, some patients have unmanagable seizures, while others do well.

Complications

Common complications of SWS include epilepsy, untreated glaucoma can cause vision loss, developmental delay, growth hormone deficiency , and hypothyroidism.

Prognosis

The prognosis of SWS depends on the following factors

1) Age at the onset of seizures: Earlier onset of seizures indicates a poorer prognosis and higher risk of neurological problems.

2) The extent of involvement of skin: Extensive involvement of skin indicates the poor prognosis.

3) The extent of involvement of the brain: Bilateral brain involvement indicates a high risk of development of learning disorders and intellectual disability.[16]

Diagnosis

SWS should be suspected in infants with Port-wine stain on the forehead and upper eyelid. To confirm the diagnosis of SWS the ophthalmological examination and the MRI with contrast should be performed.

Physical Examination

Physical examination may be remarkable for:

Laboratory Findings

There are no specific laboratory findings associated with SWS.

Imaging Findings

MRI with gadolinium contrast is the imaging modality of choice for SWS. , which can demonstrate the presence of leptomeningeal capillary malformations. It can also show the extent of brain involvement. The axial MRI below shows the volume loss in the left parietal and occipital lobes.

CT scan of the brain may be indicated in Emergency room to evaluate children presenting with seizures. It may demonstrate calcifications, loss of volume, enlarged ventricles, and tam track sign. The image below shows subcortical calcification seen in the region of left parietal and occipital lobes accompanied by parenchymal volume loss.

Treatment

There is no specific treatment available for SWS.

Seizures

Antiepileptics are the mainstay of the management of seizures associated with SWS. The most commonly used antiepileptics are phenobarbital, carbamazepine, oxcarbazepine, and levetiracetam. Carbamazepine and oxcarbazpine associated with the better seizure control than levetiracetam. [17] In untreated cases of intractable seizures surgery is indicated, through hemispherectomy, lobectomy or transection of corpus callosum.

Port-wine stain

For the facial Port-wine stain the treatment with pulsed dye laser is the treatment of choice.[18].

Glaucoma

The early-onset glaucoma can be treated with surgical methods like trabeculectomy or geniotomy. For the late-onset glaucoma the topical medications to lower the intraocular pressure are used. In newborns with a high risk of development of glaucoma should have an ophthalmological check-up every 3 months for the first year of life, and then annually throughout the life of an individual.

Patients with cognitive deficits may benefit from behavioral psychology.

Prevention

There are no primary preventive measures available for SWS.

The patients diagnosed with SWS should be started on the antiepileptic before the first seizure especially in those with extensive leptomeningeal involvement, the prophylactic use of antiepiletics may decrease the risk of cognitive impairment.[17]. Low-dose aspirin 3-5 mg/kg/day can be used to in all children diagnosed with SWS to lower the risk of hypoxic-ischemic neuronal injury, as aspirin has antithrombotic effects.[19]

References

  1. Weber FP (1922). "RIGHT-SIDED HEMI-HYPOTROPHY RESULTING FROM RIGHT-SIDED CONGENITAL SPASTIC HEMIPLEGIA, WITH A MORBID CONDITION OF THE LEFT SIDE OF THE BRAIN, REVEALED BY RADIOGRAMS". J Neurol Psychopathol. 3 (10): 134–9. doi:10.1136/jnnp.s1-3.10.134. PMC 1068054. PMID 21611493.
  2. 2.0 2.1 Sudarsanam A, Ardern-Holmes SL (2014). "Sturge-Weber syndrome: from the past to the present". Eur J Paediatr Neurol. 18 (3): 257–66. doi:10.1016/j.ejpn.2013.10.003. PMID 24275166.
  3. 3.0 3.1 Singh AK, Keenaghan M. PMID 29083797. Missing or empty |title= (help)
  4. Comati A, Beck H, Halliday W, Snipes GJ, Plate KH, Acker T (2007). "Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge-Weber syndrome". J Neuropathol Exp Neurol. 66 (1): 86–97. doi:10.1097/nen.0b013e31802d9011. PMID 17204940.
  5. 5.0 5.1 Comi AM (2011). "Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome". Neurologist. 17 (4): 179–84. doi:10.1097/NRL.0b013e318220c5b6. PMC 4487915. PMID 21712663.
  6. 6.0 6.1 Sujansky E, Conradi S (1995). "Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children". J Child Neurol. 10 (1): 49–58. doi:10.1177/088307389501000113. PMID 7769179.
  7. Zolkipli Z, Aylett S, Rankin PM, Neville BG (2007). "Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome". Dev Med Child Neurol. 49 (9): 697–9. doi:10.1111/j.1469-8749.2007.00697.x. PMID 17718827.
  8. Gittins S, Steel D, Brunklaus A, Newsom-Davis I, Hawkins C, Aylett SE (2018). "Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome". Epilepsy Behav. 88: 1–4. doi:10.1016/j.yebeh.2018.08.006. PMID 30195931.
  9. Kossoff EH, Hatfield LA, Ball KL, Comi AM (2005). "Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome". J Child Neurol. 20 (8): 678–82. doi:10.1177/08830738050200080901. PMID 16225815.
  10. Miller RS, Ball KL, Comi AM, Germain-Lee EL (2006). "Growth hormone deficiency in Sturge-Weber syndrome". Arch Dis Child. 91 (4): 340–1. doi:10.1136/adc.2005.082578. PMC 2065976. PMID 16551788.
  11. Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL (2008). "Central hypothyroidism and Sturge-Weber syndrome". Pediatr Neurol. 39 (1): 58–62. doi:10.1016/j.pediatrneurol.2008.03.018. PMID 18555176.
  12. Sullivan TJ, Clarke MP, Morin JD (1992). "The ocular manifestations of the Sturge-Weber syndrome". J Pediatr Ophthalmol Strabismus. 29 (6): 349–56. PMID 1287171.
  13. Abdolrahimzadeh, Solmaz; Scavella, Vittorio; Felli, Lorenzo; Cruciani, Filippo; Contestabile, Maria Teresa; Recupero, Santi Maria (2015). "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?". BioMed Research International. 2015: 1–11. doi:10.1155/2015/786519. ISSN 2314-6133.
  14. Kolb L, Krishnamurthy K. PMID 29083716. Missing or empty |title= (help)
  15. Sakaguchi Y, Takenouchi T, Uehara T, Kishi K, Takahashi T, Kosaki K (2017). dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28782176 "Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect" Check |url= value (help). Am J Med Genet A. 173 (10): 2831–2833. doi:10.1002/ajmg.a.38363. PMID 28782176.
  16. Bloom PJ (1977). "Determination of monaural sensitivity changes due to the pinna by use of minimum-audible-field measurements in the lateral vertical plane". J Acoust Soc Am. 61 (3): 820–8. doi:10.1121/1.381346. PMID 0853154.
  17. 17.0 17.1 Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M; et al. (2016). "Anticonvulsant Efficacy in Sturge-Weber Syndrome". Pediatr Neurol. 58: 31–6. doi:10.1016/j.pediatrneurol.2015.10.015. PMC 4943018. PMID 26997037.
  18. Alster TS, Railan D (2006). "Laser treatment of vascular birthmarks". J Craniofac Surg. 17 (4): 720–3. doi:10.1097/00001665-200607000-00023. PMID 16877924.
  19. Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM (2013). "Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes". J Child Neurol. 28 (2): 213–8. doi:10.1177/0883073812463607. PMC 4373084. PMID 23112247.

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