Sturge-Weber-Krabbe Syndrome Definition
Sturge-Weber-Krabbe Syndrome: A congenital syndrome characterized by a port-wine nevus covering portions of the face and cranium (in the distribution of the ophthalmic division of the TRIGEMINAL NERVE) and angiomas of the meninges and choroid. Clinical manifestations include the onset of focal SEIZURES, progressive hemiparesis, GLAUCOMA, hemianopsia, and cognitive deficits in the first decade of life. By age two years, skull radiographs reveal “tramline calcifications” of the margins of the occipital and parietal lobes. Pathologically cortical neurons are replaced by glial tissue that undergoes calcification. (From Adams et al., Principles of Neurology, 6th ed, pp1018-9)
Synonym: meningo-oculo-facial angiomatosis, angiomatosis oculoorbital-thalamic syndrome, meningofacial angiomatosis cerebral calcification syndrome, encephalofacial hemangiomatosis syndrome, sturge-weber-dimitri syndrome, sturge-weber syndrome, sturge-kalischer-weber syndrome, sturge weber phakomatosis, sturge syndrome, sturge disease, neuroretinoangiomatosis.