Literature DB >> 28096564

Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.

Amal Y Kentab1.   

Abstract

Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder. It is typically characterized by unilateral, posterior leptomeningeal angiomas that calcify, glaucoma, and facial portwine tains. Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by ipsilateral cutaneous capillary malformations, venous varicosities, and bony or soft tissue overgrowth of the affected limbs. The clinical, neuroradiological features as well as the outcome of a Saudi boy who was referred to the Division of Pediatric Neurology, King Saud University Medical City, Riyadh, Saudi Arabia, with intractable focal seizure and left-sided hemiparesis who was eventually diagnosed with combined SWS and KTS is described here. The rare coexistence of SWS and KTS should be suspected in a child presenting with neurological manifestation such as epilepsy, mental sub normality, or hemiparesis, with port-wine staining or capillary hemangioma and enlarged limbs. Awareness may help in improving the quality of life and survival of these patients.

Entities:  

Keywords:  Cerebral angiomatosis; Cerebral calcification; Glaucoma; Klippel-Trenaunay-Weber syndrome; Sturge-Weber syndrome

Year:  2016        PMID: 28096564      PMCID: PMC5237841     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN: 0256-4408


  19 in total

1.  Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme?

Authors:  Wynand Vissers; Maurice Van Steensel; Peter Steijlen; Willy Renier; Peter Van De Kerkhof; Carine Van Der Vleuten
Journal:  Eur J Dermatol       Date:  2003 May-Jun       Impact factor: 3.328

Review 2.  Sturge-Weber syndrome: a review.

Authors:  Kristin A Thomas-Sohl; Dale F Vaslow; Bernard L Maria
Journal:  Pediatr Neurol       Date:  2004-05       Impact factor: 3.372

Review 3.  Klippel-Trenaunay syndrome: a multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth.

Authors:  George G Kihiczak; Jon G Meine; Robert A Schwartz; Camila K Janniger
Journal:  Int J Dermatol       Date:  2006-08       Impact factor: 2.736

Review 4.  Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.

Authors:  Charlène E U Oduber; Chantal M A M van der Horst; Raoul C M Hennekam
Journal:  Ann Plast Surg       Date:  2008-02       Impact factor: 1.539

5.  Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome.

Authors:  Helene Verhelst; Rudy Van Coster
Journal:  J Child Neurol       Date:  2005-11       Impact factor: 1.987

6.  Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Authors:  Matthew D Shirley; Hao Tang; Carol J Gallione; Joseph D Baugher; Laurence P Frelin; Bernard Cohen; Paula E North; Douglas A Marchuk; Anne M Comi; Jonathan Pevsner
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

Review 7.  Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis.

Authors:  A A Timur; D J Driscoll; Q Wang
Journal:  Cell Mol Life Sci       Date:  2005-07       Impact factor: 9.261

8.  Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children.

Authors:  Mustafa A Salih; Waleed R Murshid; Jihad N Zahraa; Abdel-Galil M Abdel-Gader; Ahmed A Al-Jarallah; Amal Y Kentab; Ibrahim A Alorainy; Hamdy H Hassan; Giap T Tjan
Journal:  Saudi Med J       Date:  2006-03       Impact factor: 1.484

9.  Dominant inheritance and intra-familial variations in the association of Sturge-Weber and Klippel-Trenaunay-Weber syndromes.

Authors:  José Maria Pereira de Godoy; Agnes Cristina Fett-Conte
Journal:  Indian J Hum Genet       Date:  2010-01

10.  Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis.

Authors:  Monika Chhajed; Sadbhavna Pandit; Neeraj Dhawan; Amit Jain
Journal:  J Pediatr Neurosci       Date:  2010-07
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