Sturge Weber syndrome, phakomatosis pigmentovascu- laris and Down syndrome in a newborn infant
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معرفی دختر مبتلا به سندرم استورج وبر همراه با بدشکلی استخوانی در ناحیه دهان- فک بالا- صورت
Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain), seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large fa...
متن کاملAn Infantile Case of Sturge-Weber Syndrome in Association with Klippel-Trenaunay-Weber Syndrome and Phakomatosis Pigmentovascularis
Sturge-Weber syndrome can be associated with facial port-wine stains and intracranial calcification, and concurrent Klippel-Trenaunay-Weber syndrome has been reported. Klippel-Trenaunay-Weber syndrome is a rare congenital mesodermal phakomatosis characterized by cutaneous hemangiomas, venous varicosities and soft tissue or bone hypertrophy of the affected extremities. This report is presented a...
متن کاملOverlapping 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 ...
متن کاملOphthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous...
متن کاملA Newborn Infant with a Pulsatile Substernal Structure in a Midline Defect; Cantrell's Syndrome
The present report describes a male newborn with a pulsatile structure beneath the sternum. Echocardiography showed common atrium, a single ventricle, mitral atresia, double outlet right ventricle, subpulmonary stenosis, small pulmonary artery branches, and a thin walled ventricular diverticulum suggestive of Cantrell's syndrome. The diverticulum was resected to prevent life threatening events ...
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تاریخ انتشار 2013