Sturge-Weber Syndrome: A Review

A Study on Neurocutaneous Syndromes in a Rural Teaching Institute- A South Indian Study

“…Tuberous sclerosis shows signs of being carriers of the gene TSC1 gene-located on chromosome 9q34, encodes protein called hamartin and TSC2 gene-located on chromosome 16p13 and encodes protein called tuberin for the disease when carefully examined. [4] The most important neurological problems are mental retardation, seizures, autism and learning difficulties. Systemic manifestations include polycystic kidneys, honeycomb lung, retinal phakomatoses, rhabdomyomas, haemangiomas of liver/spleen and tubers in the basal ganglia.…”

“…[3] It of three types, type-I presents with facial and leptomeningeal angioma as well as possibility of glaucoma and coloboma, type-II appears with facial angioma, glaucoma with any brain involvement and type-III has features of leptomeningeal angioma. [4] encompassing the clinical triad of tuberous sclerosis (Epi: epilepsy, Loi: low intelligence, A: adenoma sebaceum. [5] No pathognomonic clinical signs for TSC complex are seen.…”

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

“…What is more, it has been observed that mutations in those two genes occur in tumors including melanomas [171][172][173]. Another activating mutation of GNAQ (c.626A>T; p.Gln-209Leu) has been reported in SWS, phakomatosis pigmentovascularis (a similarly sporadic condition combining port-wine stain and pigmentary lesion) but also in uncomplicated, congenital hemangiomas and in several melanocytic neoplasms and malignant intraocular tumors including uveal melanomas [160,174,175].…”

Epilepsy in Sturge-Weber syndrome: a literature review and description of a clinical case

“…Прогноз для этих пациентов является хорошим в большинстве случаев и зависит от тяжести связанных с ним симптомов [18].…”