J Korean Pediatr Soc.  2003 Sep;46(9):909-912.

A Case of Klippel-Trenaunay Syndrome Combinded with Sturge-Weber Syndrome

• Kim MY
• Lee SY
• Kim NY
• Lee SJ
• Kim WD
• Cho SM
• Lee DS
• Kim DK
• Choi SM

Abstract

Klippel-Trenaunay syndrome is a rare mesodermal phakomatosis characterized by cutaneous haemangiomata(usually unilateral and involving an extremity), venous varicosities and osseous and soft tissue hypertrophy, of the affected limb. Sturge-Weber syndrome, also a mesodermal pharkomatosis, is characterized by a port-wine nevus, which is present from birth and covers the face and cranium in the territory of the first division of the trigeminal nerve. Homolateral to the skin lesion, there is atrophy and calcification of the cerebral hemisphere. We experienced an unusual 26-months-old female, who had features of both Klippel-Trenaunay syndrome and Sturge-Weber syndrome. She had an extensive nevus flammeus which extended primarily over both sides of her face and the right side of the trunk and extremities, hypertrophy of the right extremity without evidence of arterovenous fistula, right glaucoma, choroidal hemangioma and leptomeningeal hemangioma, which combined Klippel-Trenaunay syndrome and Sturge-Weber syndrome. We reported this rare case with a brief review of some related literatures.

Keyword

Klippel-Trenaunay syndrome; Sturge-Weber syndrome

MeSH Terms

Atrophy
Cerebrum
Choroid
Extremities
Female
Fistula
Glaucoma
Hemangioma
Humans
Hypertrophy
Klippel-Trenaunay-Weber Syndrome*
Mesoderm
Neurocutaneous Syndromes
Nevus
Parturition
Port-Wine Stain
Skin
Skull
Sturge-Weber Syndrome*
Trigeminal Nerve