Sturge-Weber syndrome
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Sturge-Weber syndrome,or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas.
It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS).
Epidemiology
Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,000-50,000 persons 1211.
Clinical presentation
The diagnosis is usually obvious on account of a congenital facial cutaneous haemangioma (also known as port wine stain or facial naevus flammeus). This feature is almost always present and usually involves the ophthalmic division (V1) of the trigeminal nerve43; if this territory is not involved, Sturge-Weber syndrome is unlikely 1110. Only rarely, in about 5%, it has intracranial involvement present without associated cutaneous naevus 1-2,2. In the majority of cases (72%) the naevus is unilateral and ipsilateral to the intracranial abnormality.
The most common clinical manifestation is with childhood seizures, present in 71-89% of cases 2, that are often refractory to medical therapy 1. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia.
Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, buphthalmos or glaucoma 1.
Pathology
Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component 5,114,10. An associated gene mutation has been identified with a nucleotide transition in GNAQ on chromosome 9q21 1312.
The leptomeningeal haemangioma results in a vascular steal affecting the subjacent cortex and white matter producing localised ischaemia. In about 80% of the cases, there is an unihemispheric involvement.
Associations
Radiographic features
Plain radiograph
Skull x-rays were historically useful and capable of identifying the gyriform calcification of the subcortical white matter although they no longer play a significant role in the diagnosis or management of this condition. The finding usually becomes evident between 2 and 7 years of age 2.
CT
- detects subcortical calcification at an earlier age than plain film and can also demonstrate associated parenchymal volume loss
-
tram-track sign of cortical and subcortical calcification
14,1513,14 - calvarial and regional sinus enlargement may be evident
- ipsilateral choroid plexus may be enlarged
- in severe cases, a Dyke-Davidoff-Masson appearance may be seen
MRI
- T1: signal of affected region largely normal, with anatomic volume loss evident at older age
-
T1 C+ (Gd)
- prominent leptomeningeal enhancement in affected area
- much later in life the angioma may 'burn out' losing enhancement 1
- enlarged ipsilateral choroid plexus
-
T2
- low signal in white matter subjacent to angioma representing
- postulated accelerated myelination in neonate 1
- calcification later in life
- abnormal deep venous drainage seen as flow voids
- low signal in white matter subjacent to angioma representing
- GE/SWI/EPI: sensitive to calcification, seen as regions of signal drop out
-
MR spectroscopy: decreased NAA
76
DSA: angiography
In most cases (82%), angiography is abnormal and demonstrates absent superficial cortical veins with abnormal and enlarged deep venous drainage 2.
Treatment and prognosis
Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases. Ophthalmological examination is also essential to identify and treat ocular involvement 43.
History and etymology
Sturge-Weber syndrome was first described by Sturge in 1879 who argued that there was a direct link between the intracranial haemangioma and the clinical presentation, followedalthough this was not accepted by his medical peers. It took until 1901 for Kalischer to provide the pathological confirmation that the pial angioma caused the neurological sequelae 20.
In 1912 Weber and Volland in 1912 who described described the intracranial calcification. Radiographic identification of cerebral calcification was first described by Dimitri in 1922 2-3,18,20. In fact Schirmer described a male patient with a facial naevus and buphthalmos in 1860, however he did not recognise that it was a neurological condition 20.
-
William Allen Sturge: English physician (1850-1919)
316,18,20 -
Frederick Parkes Weber: English
physiciandermatologist (1863-1962)317,19- five different diseases are named after Dr Weber! 19
-
Vincente Dimitri: Austrian dermatologist (1885-1955)
318 - Rudolf Schirmer (1831–96): German ophthalmologist 20
- Siegfried Kalischer (1862-1954) German neuropathologist 20,21
Differential diagnosis
The differential is a combination of that for multiple intracranial calcifications, cerebral hemiatrophy and leptomeningeal enhancement, and therefore includes:
- cerebral arteriovenous malformation (AVM)
- infection
-
PHACE syndrome
87 - healed cortical infarct
- radiotherapy
-
Gobbi syndrome
1615
-<p><strong>Sturge-Weber syndrome</strong>,<strong> </strong>or <strong>encephalotrigeminal angiomatosis</strong>, is a <a href="/articles/phakomatosis">phakomatosis</a> characterised by facial port wine stains and pial angiomas. </p><p>It is part of a wide spectrum of possible phenotypes included in the <a href="/articles/cerebrofacial-arteriovenous-metameric-syndrome">craniofacial arteriovenous metameric syndrome (CAMS)</a>.</p><h4>Epidemiology</h4><p>Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,000-50,000 persons <sup>12</sup>.</p><h4>Clinical presentation</h4><p>The diagnosis is usually obvious on account of a congenital facial cutaneous haemangioma (also known as <a href="/articles/port-wine-stain">port wine stain</a> or facial naevus flammeus). This feature is almost always present and usually involves the ophthalmic division (V1) of the <a href="/articles/trigeminal-nerve">trigeminal nerve</a> <sup>4</sup>; if this territory is not involved, Sturge-Weber syndrome is unlikely <sup>11</sup>. Only rarely, in about 5%, it has intracranial involvement present without associated cutaneous naevus <sup>1-2</sup>. In the majority of cases (72%) the naevus is unilateral and ipsilateral to the intracranial abnormality. </p><p>The most common clinical manifestation is with childhood seizures, present in 71-89% of cases <sup>2</sup>, that are often refractory to medical therapy <sup>1</sup>. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia.</p><p>Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, <a href="/articles/buphthalmos">buphthalmos</a> or glaucoma <sup>1</sup>.</p><h4>Pathology</h4><p>Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component <sup>5,11</sup>. An associated gene mutation has been identified with nucleotide transition in <em>GNAQ</em> on chromosome 9q21 <sup>13</sup>.</p><p>The leptomeningeal haemangioma results in a vascular steal affecting the subjacent cortex and white matter producing localised ischaemia. In about 80% of the cases, there is an unihemispheric involvement.</p><h5>Associations</h5><ul>- +<p><strong>Sturge-Weber syndrome</strong>,<strong> </strong>or <strong>encephalotrigeminal angiomatosis</strong>, is a <a href="/articles/phakomatosis">phakomatosis</a> characterised by facial port wine stains and pial angiomas. </p><p>It is part of a wide spectrum of possible phenotypes included in the <a href="/articles/cerebrofacial-arteriovenous-metameric-syndrome">craniofacial arteriovenous metameric syndrome (CAMS)</a>.</p><h4>Epidemiology</h4><p>Sturge-Weber syndrome is a rare syndrome, with an incidence estimated at 1 case in 20,000-50,000 persons <sup>11</sup>.</p><h4>Clinical presentation</h4><p>The diagnosis is usually obvious on account of a congenital facial cutaneous haemangioma (also known as <a href="/articles/port-wine-stain">port wine stain</a> or facial naevus flammeus). This feature is almost always present and usually involves the ophthalmic division (V1) of the <a href="/articles/trigeminal-nerve">trigeminal nerve</a> <sup>3</sup>; if this territory is not involved, Sturge-Weber syndrome is unlikely <sup>10</sup>. Only rarely, in about 5%, it has intracranial involvement present without associated cutaneous naevus <sup>1,2</sup>. In the majority of cases (72%) the naevus is unilateral and ipsilateral to the intracranial abnormality. </p><p>The most common clinical manifestation is with childhood seizures, present in 71-89% of cases <sup>2</sup>, that are often refractory to medical therapy <sup>1</sup>. These usually begin in the first few years of life and are often associated with developmental delay and hemispheric symptoms including hemiplegia/hemiparesis and hemianopsia.</p><p>Approximately a third of patients have choroidal or scleral angiomatous involvement, which may be complicated with retinal detachment, <a href="/articles/buphthalmos">buphthalmos</a> or glaucoma <sup>1</sup>.</p><h4>Pathology</h4><p>Unlike most phakomatoses, Sturge-Weber syndrome is sporadic with no definite identifiable hereditary component <sup>4,10</sup>. An associated gene mutation has been identified with a nucleotide transition in <em>GNAQ</em> on chromosome 9q21 <sup>12</sup>.</p><p>The leptomeningeal haemangioma results in a vascular steal affecting the subjacent cortex and white matter producing localised ischaemia. In about 80% of the cases, there is unihemispheric involvement.</p><h5>Associations</h5><ul>
-<a href="/articles/coarctation-of-the-aorta">coarctation of aorta</a> <sup>10</sup>- +<a href="/articles/coarctation-of-the-aorta">coarctation of aorta</a> <sup>9</sup>
-<a href="/articles/paraganglioma-1">paragangliomas</a> <sup>9</sup> </li>- +<a href="/articles/paraganglioma-1">paragangliomas</a> <sup>8</sup> </li>
-<a href="/articles/tram-track-sign-brain-1">tram-track sign</a> of cortical and subcortical calcification <sup>14,15</sup>- +<a href="/articles/tram-track-sign-brain-1">tram-track sign</a> of cortical and subcortical calcification <sup>13,14</sup>
-<strong>MR spectroscopy:</strong> decreased NAA <sup>7</sup>- +<strong>MR spectroscopy:</strong> decreased NAA <sup>6</sup>
-</ul><h5>DSA: angiography</h5><p>In most cases (82%), angiography is abnormal and demonstrates absent <a href="/articles/superficial-veins-of-the-brain">superficial cortical veins</a> with abnormal and enlarged deep venous drainage <sup>2</sup>.</p><h4>Treatment and prognosis</h4><p>Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases. Ophthalmological examination is also essential to identify and treat ocular involvement <sup>4</sup>. </p><h4>History and etymology</h4><p>Sturge-Weber syndrome was first described by <strong>Sturge</strong> in 1879, followed by <strong>Weber </strong>and <strong>Volland</strong> in 1912 who described the intracranial calcification. Radiographic identification of cerebral calcification was first described by <strong>Dimitri </strong>in 1922 <sup>2-3</sup>. </p><ul>- +</ul><h5>DSA: angiography</h5><p>In most cases (82%), angiography is abnormal and demonstrates absent <a href="/articles/superficial-veins-of-the-brain">superficial cortical veins</a> with abnormal and enlarged deep venous drainage <sup>2</sup>.</p><h4>Treatment and prognosis</h4><p>Treatment revolves primarily around seizure control, with surgical resection only indicated rarely in refractory cases. Ophthalmological examination is also essential to identify and treat ocular involvement <sup>3</sup>. </p><h4>History and etymology</h4><p>Sturge-Weber syndrome was first described by <strong>Sturge</strong> in 1879 who argued that there was a direct link between the intracranial haemangioma and the clinical presentation, although this was not accepted by his medical peers. It took until 1901 for <strong>Kalischer</strong> to provide the pathological confirmation that the pial angioma caused the neurological sequelae <sup>20</sup>. </p><p>In 1912 <strong>Weber </strong>and <strong>Volland</strong> described the intracranial calcification. Radiographic identification of cerebral calcification was first described by <strong>Dimitri </strong>in 1922 <sup>2,18,20</sup>. In fact <strong>Schirmer</strong> described a male patient with a facial naevus and buphthalmos in 1860, however he did not recognise that it was a neurological condition <sup>20</sup>. </p><ul>
-<strong>William Allen Sturge:</strong> English physician (1850-1919) <sup>3</sup>- +<strong>William Allen Sturge:</strong> English physician (1850-1919) <sup>16,18,20</sup>
-<strong>Frederick Parkes Weber:</strong> English physician (1863-1962) <sup>3</sup>- +<strong>Frederick Parkes Weber:</strong> English dermatologist (1863-1962) <sup>17,19</sup><ul><li>five different diseases are named after Dr Weber! <sup>19</sup>
- +</li></ul>
- +</li>
- +<li>
- +<strong>Vincente Dimitri:</strong> Austrian dermatologist (1885-1955) <sup>18</sup>
- +</li>
- +<li>
- +<strong>Rudolf Schirmer</strong> (1831–96): German ophthalmologist <sup>20</sup>
-<strong>Vincente Dimitri:</strong> Austrian dermatologist (1885-1955) <sup>3</sup>- +<strong>Siegfried Kalischer </strong>(1862-1954) German neuropathologist <sup>20,21</sup>
-<a href="/articles/phace-syndrome">PHACE syndrome</a> <sup>8</sup>- +<a href="/articles/phace-syndrome">PHACE syndrome</a> <sup>7</sup>
-<a href="/articles/cec-syndrome-1">Gobbi syndrome</a> <sup>16</sup>- +<a href="/articles/cec-syndrome-1">Gobbi syndrome</a> <sup>15</sup>
References changed:
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- 5. Menkes JH, Sarnat HB, Maria BL. Child neurology. Lippincott Williams & Wilkins. (2006) ISBN:0781751047. <a href="http://books.google.com/books?vid=ISBN0781751047">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0781751047?ie=UTF8&tag=radiopaediaor-20&linkCode=as2&camp=1789&creative=9325&creativeASIN=0781751047">Find it at Amazon</a><div class="ref_v2"></div>
- 6. Burgener FA, Kormano M. Differential diagnosis in computed tomography. Thieme. (1996) ISBN:0865775478. <a href="http://books.google.com/books?vid=ISBN0865775478">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0865775478?ie=UTF8&tag=radiopaediaor-20&linkCode=as2&camp=1789&creative=9325&creativeASIN=0865775478">Find it at Amazon</a><div class="ref_v2"></div>
- 7. Moore GJ, Slovis TL, Chugani HT. Proton magnetic resonance spectroscopy in children with Sturge-Weber syndrome. J. Child Neurol. 1998;13 (7): 332-5. <a href="http://dx.doi.org/10.1177/088307389801300705">doi:10.1177/088307389801300705</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/9701482">Pubmed citation</a><div class="ref_v2"></div>
- 8. Pascual-castroviejo I, Viaño J, Moreno F et-al. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. AJNR Am J Neuroradiol. 1996;17 (3): 461-71. <a href="http://www.ajnr.org/cgi/content/abstract/17/3/461">AJNR Am J Neuroradiol (abstract)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/8881240">Pubmed citation</a><div class="ref_v2"></div>
- 9. Wong-you-cheong JJ, Woodward PJ, Manning MA et-al. From the Archives of the AFIP: neoplasms of the urinary bladder: radiologic-pathologic correlation. Radiographics. 26 (2): 553-80. <a href="http://dx.doi.org/10.1148/rg.262055172">doi:10.1148/rg.262055172</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/16549617">Pubmed citation</a><div class="ref_v2"></div>
- 10. Pascual-castroviejo I, Viaño J, Moreno F et-al. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. AJNR Am J Neuroradiol. 1996;17 (3): 461-71. <a href="http://www.ajnr.org/cgi/content/abstract/17/3/461">AJNR Am J Neuroradiol (abstract)</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/8881240">Pubmed citation</a><div class="ref_v2"></div>
- 11. Griffiths PD. Sturge-Weber syndrome revisited: the role of neuroradiology. Neuropediatrics. 1996;27 (06): 284-94. <a href="http://dx.doi.org/10.1055/s-2007-973796">doi:10.1055/s-2007-973796</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/9050045">Pubmed citation</a><span class="auto"></span>
- 12. Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphat Res Biol. 2007;5 (4): 257-64. <a href="http://dx.doi.org/10.1089/lrb.2007.1016">doi:10.1089/lrb.2007.1016</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/18370916">Pubmed citation</a><span class="auto"></span>
- 13. Shirley MD, Tang H, Gallione CJ et-al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N. Engl. J. Med. 2013;368 (21): 1971-9. <a href="http://dx.doi.org/10.1056/NEJMoa1213507">doi:10.1056/NEJMoa1213507</a> - <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749068">Free text at pubmed</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/23656586">Pubmed citation</a><span class="auto"></span>
- 14. David M. Yousem, Robert I. Grossman. Neuroradiology. The requisites. Mosby. (2010) ISBN:0323045219. <a href="http://books.google.com/books?vid=ISBN0323045219">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0323045219">Find it at Amazon</a><span class="ref_v3"></span>
- 15. Akpinar E. The tram-track sign: cortical calcifications. Radiology. 2004;231 (2): 515-6. <a href="http://dx.doi.org/10.1148/radiol.2312020545">doi:10.1148/radiol.2312020545</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/15128996">Pubmed citation</a><span class="auto"></span>
- 16. Gobbi G. Coeliac disease, epilepsy and cerebral calcifications. Brain & development. 27 (3): 189-200. <a href="https://doi.org/10.1016/j.braindev.2004.05.003">doi:10.1016/j.braindev.2004.05.003</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/15737700">Pubmed</a> <span class="ref_v4"></span>
- 20.
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