Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

Abstract

Sturge–Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel–Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge–Weber syndrome in combination with Klippel–Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.

A rare paediatric case of Klippel-Trenaunay- Weber syndrome

“…The coexistence of Sturge-Weber syndrome (SWS) and Klippel-Trenaunay syndrome (KTS) is considered rare, with only a handful of reported cases found in the literature. [ 1 2 3 4 5 6 7 8 ] We believe that the unusually extensive port wine stain involving the left upper and lower limbs and ipsilateral upper trunk along with contra lateral limb hypertrophy renders this case as an example of such occurrence. After reviewing the literature, this case to the best of our knowledge, is the only example of an overlap of SWS and KTS in which there are contra lateral port wine stain and hemi hypertrophy, occurring in conjunction with intractable seizures and global developmental delay.…”

A rare case of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndrome associated with bilateral refractory childhood glaucoma

“…Based on the typical clinical features and neuroimaging, the patient was diagnosed to have Sturge–Weber syndrome in combination with Klippel–Trenaunay syndrome. [ 1 2 ]…”

“…Sturge–Weber syndrome is a congenital, sporadic, encephalotrigeminal angiomatosis affecting about 1 in 50,000 and is characterized by facial capillary malformation called port-wine stain involving the eyelids, glaucoma, and vascular lesions seen in the ipsilateral brain and meninges. [ 1 ] Klippel–Trenaunay–Weber syndrome is a rare congenital mesodermal phakomatosis, affecting 1 in 100,000, predominantly involving limbs and is characterized by cutaneous hemangiomas, venous varicosities, and asymmetric hypertrophy of soft tissues and bones. [ 1 2 ] An overlap of Sturge–Weber syndrome with Klippel–Trenaunay syndrome is extremely unusual and has been reported in only a handful of cases previously.…”

“…[ 1 ] Klippel–Trenaunay–Weber syndrome is a rare congenital mesodermal phakomatosis, affecting 1 in 100,000, predominantly involving limbs and is characterized by cutaneous hemangiomas, venous varicosities, and asymmetric hypertrophy of soft tissues and bones. [ 1 2 ] An overlap of Sturge–Weber syndrome with Klippel–Trenaunay syndrome is extremely unusual and has been reported in only a handful of cases previously. [ 1 2 3 ]…”

“…[ 1 2 ] An overlap of Sturge–Weber syndrome with Klippel–Trenaunay syndrome is extremely unusual and has been reported in only a handful of cases previously. [ 1 2 3 ]…”