Sturge-Weber syndrome: A review

Sohl, Kristin; Vaslow, Dale; Maria, Bernard L.

doi:10.1016/j.pediatrneurol.2003.12.015

Cited by 327 publications

(197 citation statements)

References 36 publications

Supporting

Mentioning

168

Contrasting

Unclassified

Order By: Relevance

“…An absence in our patients of specific clinical and biochemical features allows for the exclusion of well characterized disorders in which ICC occurs in combination with PMG [Chitayat et al, 1992;Samson et al, 1994;Sakai et al, 1997] or separately as a major diagnostic sign [Aicardi and Goutières, 1984;Coskun et al, 1990;Aalfs and Hennekam 1995;al-Mane et al, 1998;Rapin et al, 2006;Thomas-Sohl et al, 2004;Renella et al, 2006;Saillour et al, 2007;Briggs et al, 2008].…”

Section: Discussionmentioning

confidence: 94%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.

show abstract

Section: Discussionmentioning

confidence: 94%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Com nossa revisão, percebemos que apesar de não se conhecer com exatidão a incidência da SSW ( 7) , ela não é insignificante, seja pela sua frequência (4) seja pela severidade das suas manifestações clínicas (22,24,39) e dificuldades encontradas em seu manejo (33) .…”

Section: Discussionunclassified

“…Localizada na pia-máter, aparece com maior frequência nas regiões occipital e parietal, podendo afetar outras regiões ou os dois hemisférios (3,4) .…”

Section: Manifestações Neurológicasunclassified

See 2 more Smart Citations

Síndrome de Sturge-Weber e suas repercussões oculares: revisão da literatura

Figueiredo¹,

Filho²,

Rehder³

2011

Rev. bras.oftalmol.

View full text Add to dashboard Cite

RESUMOA síndrome de Sturge-Weber (SSW) é uma desordem neuro-oculocutânea, rara e congênita. Esta facomatose, também conhecida como angiomatose encéfalotrigeminal, é definida pela tríade clássica: hemangiomas cutâneo, meníngeo e ocular. Apesar de sua apresentação típica, formas incompletas não são incomuns. O glaucoma está frequentemente presente e seus mecanismos fisiopatológicos permanecem incertos. Talvez por isso, o manejo clínico e cirúrgico do glaucoma associado à síndrome de Sturge-Weber (GSSW) seja um desafio para a prática oftalmológica, muitas vezes com resultados desapontadores. Apresentamos uma revisão da literatura com ênfase no GSSW, sua patogênese e perspectivas terapêuticas.Descritores Recebido para publicação em: 3/8/2010 -Aceito para publicação em 23/9/2011

show abstract

Clinical Classification of Childhood Glaucomas

Yeung¹

2010

Arch Ophthalmol

View full text Add to dashboard Cite

An updated classification of the primary and secondary childhood glaucomas is offered for clinical use, and associated systemic diseases are included to enable their early recognition in children with known glaucoma.Methods: Approximately 650 clinical records of patients with pediatric glaucoma were reviewed for type of glaucoma and associated systemic disease. A literature search was done for additional reported causes of childhood glaucoma. Previous classifications of pediatric glaucomas were also reviewed. Pertinent references to support inclusion of each clinical entity in the updated classification are included.Results: A comprehensive and referenced classification of the pediatric glaucomas was enabled by this review. Conclusion:A comprehensive, etiologically based classification of the pediatric glaucomas is now available to assist with the recognition of the many causes of primary and secondary glaucoma in childhood and to support the selection of specific treatment choices.

show abstract

Sturge-Weber syndrome: A review

Cited by 327 publications

References 36 publications

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Síndrome de Sturge-Weber e suas repercussões oculares: revisão da literatura

Clinical Classification of Childhood Glaucomas

Contact Info

Product

Resources

About