Sturge-Weber Syndrome

被引：0

作者：

Harmon K.A. ^{[1
]}

Comi A.M. ^{[2
]}

机构：

[1] Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, 801 North Broadway, 5th Floor Neurology, Room 558, Baltimore, 21205, MD

[2] Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, 801 North Broadway, 5th Floor Neurology, Room 553, Baltimore, 21205, MD

来源：

Current Pediatrics Reports | 2018年 / 6卷 / 1期

关键词：

Epilepsy; Glaucoma; GNAQ; Port-wine birthmark; Somatic mosaic mutation; Sturge–weber syndrome;

D O I：

10.1007/s40124-018-0151-1

中图分类号：

学科分类号：

摘要：

Purpose of Review: The goal of this paper is to discuss recent developments in the diagnosis, neuroimaging, and treatment of Sturge-Weber Syndrome. Recent Findings: Diagnosis and treatment in Sturge-Weber syndrome is evolving in the context of the recent discovery of the underlying somatic mutation in G protein subunit alpha q (GNAQ), development of novel neuroimaging techniques, as well as new multi-centered clinical trials. Summary: Sturge-Weber Syndrome is a rare, non-familial disorder that is typically characterized by the association of a facial capillary malformation with a leptomeningeal angioma of the brain and/or eye. This review will summarize the latest progress in Sturge-Weber syndrome clinical care and highlight areas of current controversy and need for future research. © 2018, Springer Science+Business Media, LLC, part of Springer Nature.

引用

页码：16 / 25

页数：9

共 82 条

[1]

Waelchli R., Aylett S.E., Robinson K., Chong W.K., Martinez A.E., Kinsler V.A., New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk, Br J Dermatol, 171, 4, pp. 861-867, (2014)

[2]

Dutkiewicz A.S., Ezzedine K., Mazereeuw-Hautier J., Lacour J.P., Barbarot S., Vabres P., A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain, J Am Acad Dermatol, 72, 3, pp. 473-480, (2015)

[3]

Dymerska M., Kirkorian A.Y., Offermann E.A., Lin D.D., Comi A.M., Cohen B.A., Size of facial port-wine birthmark may predict neurologic outcome in Sturge-Weber syndrome, J Pediatr, 188, pp. 205-209 e201, (2017)

[4]

Abdolrahimzadeh S., Scavella V., Felli L., Cruciani F., Contestabile M.T., Recupero S.M., Ophthalmic alterations in the Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the Phakomatosis Pigmentovascularis: an independent group of conditions?, Biomed Res Int, 2015, pp. 786519-786511, (2015)

[5]

Sullivan T.J., Clarke M.P., Morin J.D., The ocular manifestations of the Sturge-Weber syndrome, J Pediatr Ophthalmol Strabismus, 29, 6, pp. 349-356, (1992)

[6]

Ray D., Mandal A.K., Chandrasekhar G., Naik M., Dhepe N., Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome, J AAPOS, 14, 1, (2010)

[7]

Sujansky E., Conradi S., Outcome of Sturge-Weber syndrome in 52 adults, Am J Med Genet, 57, 1, pp. 35-45, (1995)

[8]

Ambrosetto P., Ambrosetto G., Michelucci R., Bacci A., Sturge-Weber syndrome without port-wine facial nevus—report of 2 cases studied by Ct, Child Brain, 10, 6, pp. 387-392, (1983)

[9]

Comi A.M., Fischer R., Kossoff E.H., Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants?, J Child Neurol, 18, 1, pp. 35-38, (2003)

[10]

Sudarsanam A., Ardern-Holmes S.L., Sturge-Weber syndrome: from the past to the present, Eur J Paediatr Neurol, 18, 3, pp. 257-266, (2014)

← 1 2 3 4 5 6 7 8 9 →