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

نویسنده

  • Amal Y Kentab
چکیده

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.

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منابع مشابه

Overlapping of Sturge Weber syndrome and Klippel Trenaunay Weber syndrome.

Sturge-Weber Syndrome (SWS) occurs sporadically with a frequency of approximately 1 in 50,000. SWS is a mesodermal phakomatosis. Klippel-Trenaunay Weber syndrome (KTWS) is another very rare phakomatosis. Overlap between SWS & KTWS is very rarely encountered. We report a 19 months old boy with features of both SWS and KTWS. The reported case had seizures, port wine haemangioma of the right side ...

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عنوان ژورنال:
  • Sudanese journal of paediatrics

دوره 16 2  شماره 

صفحات  -

تاریخ انتشار 2016