Klippel-Trenaunay and Sturge-Weber overlapping syndrome in a Saudi boy.
نویسنده
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.
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 ...
متن کاملA rare case of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndrome associated with bilateral refractory childhood glaucoma
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-...
متن کاملDominant inheritance and intra–familial variations in the association of Sturge–Weber and Klippel–Trenaunay–Weber syndromes
This case report shows a genealogical study where a woman has limb hypertrophy and her son has an association of Sturge-Weber syndrome with Klippel-Trenaunay-Weber syndrome. The Sturge-Weber and Klippel-Trenaunay-Weber syndromes appear to be different manifestations of the same affliction. Familial aggregation exists and transmission may be almost imperceptible between generations. Identificati...
متن کاملSturge-Weber and Klippel-Trenaunay syndromes with absence of inferior vena cava.
A baby girl born at 33 weeks' gestation weighing 2250 g presented with Sturge-Weber syndrome, features of the Klippel-Trenaunay syndrome, and absence of the inferior vena cava. We suggest that aplasia of the vena cava may be a feature of Klippel-Trenaunay syndrome when the capillary malformation affects the trunk.
متن کاملThe Klippel-Feil syndrome: a case report.
Short neck and fusion of cervical vertebrae are observed in several genetic conditions and well-defined syndromes. An 8-year-old boy with a short neck, low-set posterior hairline, deafness and limited neck motion was suspected of having such a condition. Clinical and radiographic examination led to the diagnosis of Klippel-Feil syndrome.
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ورودعنوان ژورنال:
- Sudanese journal of paediatrics
دوره 16 2 شماره
صفحات -
تاریخ انتشار 2016