Sturge-Weber syndrome

スタージ・ウェーバー症候群

WordNet

1. German conductor and composer of romantic operas (1786-1826) (同)Carl Maria von Weber, Baron Karl Maria Friedrich Ernst von Weber
2. German physiologist who studied sensory responses to stimuli and is considered the father of psychophysics (1795-1878) (同)E. H. Weber, Ernst Heinrich Weber
3. German sociologist and pioneer of the analytic method in sociology (1864-1920) (同)Max Weber
4. United States abstract painter (born in Russia) (1881-1961) (同)Max Weber
5. German physicist and brother of E. H. Weber; noted for his studies of terrestrial magnetism (1804-1891) (同)Wilhelm Eduard Weber
6. a pattern of symptoms indicative of some disease
7. a complex of concurrent things; "every word has a syndrome of meanings"
8. a unit of magnetic flux equal to 100,000,000 maxwells (同)Wb

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/19 23:49:27」(JST)

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Sturge–Weber syndrome
Classification and external resources
CT scan of Sturge-Weber syndrome
ICD-10	Q85.8
ICD-9	759.6
OMIM	185300
DiseasesDB	12572
MedlinePlus	001426
eMedicine	neuro/356
MeSH	D013341

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected.

Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. Unlike other neurocutaneous disorders (phakomatoses), Sturge-Weber occurs sporadically (i.e., does not have a hereditary etiology). It is caused by a somatic activating mutation occurring in the GNAQ gene.

Symptoms

Sturge–Weber syndrome is usually manifested at birth by a port-wine stain 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 capillaries around the ophthalmic branch of the trigeminal nerve, just under 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 also be muscle weakness on the side of the body opposite the birthmark. Some children will have developmental delays and mental retardation; about 50% will have glaucoma (optic neuropathy often associated with increased intraocular pressure), 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.

Imaging findings

See also: List of radiographic findings associated with cutaneous conditions

CT and MRI are most often used to identify intracranial abnormalities. The haemangioma present on the surface of the brain is in the vast majority of cases on the same side as the birth mark and gradually results in calcification of the underlying brain and atrophy of the affected region

Treatment

Treatment for Sturge–Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Doctors recommend early monitoring for glaucoma, and surgery may be performed on more serious cases. When one side of the brain is affected and anticonvulsants prove ineffective, the standard treatment is neurosurgery to remove or disconnect the affected part of the brain (hemispherectomy). 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. Brain surgery involving removing the portion of the brain that is affected by the disorder can be successful in controlling the seizures so that the patient has only a few seizures that are much less intense than pre-surgery. Surgeons may also opt to "switch-off" the affected side of the brain.

Latanoprost (Xalatan), a prostaglandin, may significantly reduce IOP (intraocular pressure) in patients with glaucoma associated with Sturge–Weber syndrome. Latanoprost is commercially formulated as an aqueous solution in a concentration of 0.005% preserved with 0.02% benzalkonium chloride (BAC). The recommended dosage of latanoprost is one drop daily in the evening, which permits better diurnal IOP control than does morning instillation. Its effect is independent of race, gender or age, and it has few to no side effects. Contraindications include a history of CME, epiretinal membrane formation, vitreous loss during cataract surgery, history of macular edema associated with branch retinal vein occlusion, history of anterior uveitis, and diabetes mellitus. It is also wise to advise patients that unilateral treatment can result in heterochromia or hypertrichosis that may become cosmetically objectionable.

Prognosis

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

It is named for William Allen Sturge and Frederick Parkes Weber.

Foundations and Support Groups

The Sturge-Weber Foundation's (The SWF) international mission is to improve the quality of life and care for people with Sturge–Weber syndrome and associated Port Wine Birthmark conditions. It supports them with education, advocacy, and research to promote effective management and awareness. The SWF was founded by Kirk and Karen Ball, who began searching for answers after their daughter was diagnosed with Sturge-Weber Syndrome at birth. The SWF was incorporated in the USA in 1987 as an International 501(c)(3) non-profit organization. In 1992, the mission was expanded to include individuals with capillary vascular birthmarks, Klippel Trenaunay (KT) and Port Wine Birthmarks. More information regarding the Sturge-Weber Foundation or Sturge-Weber Syndrome is available on their website.

The Hemispherectomy Foundation was formed in 2008 to assist families with children who have Sturge-Weber Syndrome and other conditions that require hemispherectomy. The Brain Recovery Project was formed in 2011 to fund research and establish rehabilitation protocols to help children who have had hemispherectomy surgery reach their full potential.

Sturge Weber UK (SWUK), formerly Sturge-Weber Foundation UK, is a volunteer run registered charity formed in 1990. The charity exists to support those affected by Sturge Weber syndrome, promote research into the condition and raise awareness of the condition amongst both public and professionals. The charity was instrumental in setting up a specialist Sturge Weber clinic at Great Ormond Street Hospital. http://www.gosh.nhs.uk/medical-conditions/clinical-specialties/neurodisability-information-for-parents-and-visitors/clinics-and-services/sturge-weber-clinic/ Sturge Weber UK has created an annual Sturge Weber Awareness Day to coincide with William Allen Sturge's birth date on November 1st. The Sturge Weber Awareness Day is a collaboration with international Sturge Weber support groups to raise public and professional awareness of Sturge Weber syndrome around the world. For further information go to www.sturgeweber.org.uk

References

External links

• sturge_weber at NINDS
• The Sturge-Weber Foundation
• Sturge Weber UK
• Sturge-Weber Syndrome Community

Pictures

• Greenwood M, Meechan JG (July 2003). "General medicine and surgery for dental practitioners Part 4: Neurological disorders". Br Dent J 195 (1): 19–25. doi:10.1038/sj.bdj.4810275. PMID 12856021. "
  Fig. 2 A patient with Sturge Weber Syndrome" 
• Legs at about.com
• Another Example.jpg

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. スタージウェーバー症候群 sturge weber syndrome
• 2. 毛細血管奇形（ポートワイン母斑）：臨床的特徴、診断、および関連する症候群 capillary malformations port wine stains clinical features diagnosis and associated syndromes
• 3. 幼児および小児における緑内障の概要 overview of glaucoma in infants and children
• 4. 新生児における血管病変 vascular lesions in the newborn
• 5. 片麻痺性片頭痛 hemiplegic migraine

English Journal

• Cortical calcification in sturge-weber syndrome on MRI-SWI: Relation to brain perfusion status and seizure severity.

• Wu J, Tarabishy B, Hu J, Miao Y, Cai Z, Xuan Y, Behen M, Li M, Ye Y, Shoskey R, Haacke EM, Juhasz C.SourceAffiliated Zhongshan Hospital of Dalian University, Department of Radiology, Dalian, Liaoning, China; Department of Radiology, Wayne State University, Detroit, Michigan, USA.
• Journal of magnetic resonance imaging : JMRI.J Magn Reson Imaging.2011 Oct;34(4):791-8. doi: 10.1002/jmri.22687. Epub 2011 Jul 18.
• PURPOSE: To determine the relationship between calcified cortex and perfusion status of white matter and seizure severity in patients with Sturge-Weber Syndrome (SWS), a sporadic neurocutaneous disorder characterized by a leptomeningeal angioma, progressive brain ischemia, and a high incidence of se
• PMID 21769978

• Sturge-Weber Syndrome in Patients with Facial Port-Wine Stain.

• Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A.SourceDepartment of Dermatology, Trousseau University Hospital, Tours, France Francois Rabelais University, Tours, France Pediatrics Department, Bicetre University Hospital, Le Kremlin-Bicetre, France Department of Pediatric Radiology, Clocheville University Hospital, Tours, France Neuroradiology Department Clinical Investigation Center-INSERM 202, Bretonneau University Hospital, Tours, France.
• Pediatric dermatology.Pediatr Dermatol.2011 Sep 9. doi: 10.1111/j.1525-1470.2011.01485.x. [Epub ahead of print]
• ? Facial port-wine stain (PWS) may be associated with cerebrovascular abnormalities such as Sturge-Weber syndrome (SWS). In a large series, we aimed to assess which topography of facial PWS can predict SWS. This was a cross-sectional study of consecutive patients with facial PWS seen in pediatric
• PMID 21906147

Japanese Journal

• Sturge-Weber 症候群のPET, SPECT画像による病態評価と手術適応の研究結果からみた頭蓋骨早期癒合症の高次機能の評価におけるPETの可能性

• 新井 一,中西 肇,菅野 秀宣,下地 一彰
• 小児の脳神経 35(1), 72-76, 2010-02-28
• NAID 10026528762

• Neuroimaging findings of Sturge-Weber Syndrome in a child with Tuberous Sclerosis

• CURATOLO P.,LO-CASTRO A.,PINCI M.,MOAVERO R.,BOMVARDIERI R.
• Brain & development 31(5), 352-355, 2009-05-01
• NAID 10025579741

Related Links

• Sturge–Weber syndrome - Wikipedia, the free encyclopedia

Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, ...

Related Pictures

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★リンクテーブル★

リンク元	「神経皮膚症候群」「スタージ・ウェーバー症候群」「過成長症候群」
関連記事	「Weber」「syndrome」

「神経皮膚症候群」

　　[★]

英

neurocutaneous syndrome、neurocutaneous disorder

関

母斑症 phakomatosis

• 外胚葉異常により皮膚母斑や神経腫瘍を生じる先天性疾患

• 神経線維腫症1型, neurofibromatosis type 1, NF1, フォン・レックリングハウゼン病 von Recklinghausen disease：NF1の変異による常染色体優性遺伝疾患で多発性のカフェオレ斑、神経線維腫が特徴的。皮膚症状(カフェオレ斑、神経線維腫、黄色腫、貧血母斑、母斑性黄色内皮腫)、眼症状(リッシュ結節)

• 神経線維腫症2型, neurofibromatosis type 2, NF2
• 結節性硬化症, tuberous sclerosis
• ポイツ・イェーガー症候群, Peutz-Jeghers syndrome：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))、眼の脈絡膜血管腫、脳軟膜の血管腫　→　中枢神経症状(乳幼児期からの痙攣発作、大脳半球萎縮、石灰化、知能障害)、眼症状(脈絡膜の血管腫による眼圧亢進、緑内障　→　牛眼　)
• 色素失調症, incontinentia pigmenti, ブロッホ・ザルツバーガー症候群, Bloch-Sulzberger syndrome
• スタージ・ウェーバー症候群, Sturge-Weber syndrome：遺伝性無し。皮膚症状：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1)) 。中枢神経症状：顔面血管腫が存在する側の特に後頭葉に脳軟膜の血管腫が発生 (NDE.349)。乳幼児期からの血管発作。大脳半球萎縮、石灰化、知能障害。眼症状：緑内障(牛眼)
• クリッペル・トレノーニイ・ウェーバー症候群, Klippel-Trenaunay-Weber syndrome
• 神経皮膚黒色症, neurocutaneous smelanosis
• 汎発性黒子症候群, lentiginosis profusa, LEOPARD症候群
• 基底細胞母斑症候群, basal cell nevus syndrome
• フォン・ヒッペル・リンドウ病, von Hippel-Lindau disease：常染色体優性遺伝。
• 色素血管母斑症, phacomatosis pigmentovascularis, オスラー病, Osler disease
• 遺伝性出血性毛細血管拡張症, hereditary hemorrhagic telangiectasia
• 青色ゴムマリ様母斑症候群, blue rubber-bleb nevus syndrome
• マフッチ症候群, Maffucci's syndrome
• Zinsser-Cole-Engman症候群, Zinsser-Cole-Engman syndrome
• 先天性角化異常症, dyskeratosis congenita
• 表皮母斑症候群, epidermal nervus syndrome
• 先天性血管拡張性大理石様皮斑, cutis marmorata telangiectatica congenita

「スタージ・ウェーバー症候群」

　　[★]

英

Sturge-Weber syndrome

同

(国試)Sturge-Weber症候群、パルケス・ウェーバー・ディミトリ病 Parkes-Weber-Dimitri disease、nevoid amentia、三叉神経脳血管腫症 trigeminal encephaloangiomatosis encephalo-trigeminal angiomatosis

関

(使われない傾向にある)母斑症 phacomatosis、神経皮膚症候群

概念

• 母斑症の一つ
• 顔面の血管腫、神経症状、眼症状
• 顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))、眼の脈絡膜血管腫、脳軟膜の血管腫(NDE.349)

遺伝形式

• なし

症状

• 皮膚症状：顔面片側性の単純血管腫(三叉神経第1枝に沿う(CN V1))
• 中枢神経症状：顔面血管腫が存在する側の特に後頭葉に脳軟膜の血管腫が発生 (NDE.349)。乳幼児期からの血管発作。大脳半球萎縮、石灰化、知能障害
• 眼症状：緑内障(牛眼)

治療

• 皮膚症状：レーザー療法
• 中枢神経症状：(痙攣発作)薬物療法、脳切除
• 眼症状：眼圧の調整

参考

http://www.nature.com/eye/journal/v19/n3/fig_tab/6701474f1.html

「過成長症候群」

　　[★]

英

overgrowth syndrome

• 全身または部分的に身体が異常に成長する症候群。先天性であり、多くは出生児に認められる。ゲノム刷り込みとの関連が指摘されている。また、これらの症候群の多くでは発癌リスクが増大する。

• 神経線維腫症 neurofibromatosis
• ソトス症候群 Sotos syndrome
• ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome
• シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome
• ウィーバー症候群 Weaver's syndrome Weaver syndrome
• プロテウス症候群 Proteus syndrome
• スタージ・ウェーバー症候群 Sturge-Weber syndrome
• 脆弱X染色体症候群 fragile X syndrome
• 片側肥大症候群 hemihyperplasia syndrome HHS

「Weber」

　　[★]

ウェーバー 　 　 　 　 　

「syndrome」

　　[★]

• n.

• 症候群