An infantile case of Sturge-Weber syndrome in association with Klippel-Trenaunay-Weber syndrome and phakomatosis pigmentovascularis

Abstract

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 rare case of the Sturge-Weber syndrome in combination with the Klippel-Trennaunay syndrome and phakomatosis pigmentovascularis in a 4-month-old infant. He showed nevus flameus on the right leg and both part of the face and back, leptomeningeal angiomatosis on right hemisphere, hypertrophy of the right leg, hemiconvulsion on the left and also evidences of congenital glaucoma and nevus of Ota. Very rare case combined with these three kinds of phakomatosis has been reported.

Fig. 1

Bilateral facial nevus flammeus, oculodermal melanosis and an area of bluish gray pigmentation of the episclera.

Fig. 2

Diffuse bluish discoloration on the left side of his shoulder, arm, and wrist.

Fig. 3

His right lower limb showed a relative soft tissue hypertrophy and nevus flammeus.

Fig. 4

Hyper-dense appearance secondary to meningeal venous angiomatous change at the right cerebral hemisphere on cranial computed tomography scan.