SEARCH RESULTS FOR: Sturge-Weber-Syndrome

Sturge-Weber Syndrome

Sturge-Weber Syndrome (SWS): Pathogenesis, mechanisms & clinical findings Somatic mosaic mutations (embryonic development mutations producing multiple cell lines) occur in the GNAQ gene Abnormal regulation of intracellular signaling pathways during early embryogenesis Mechanism unclear. Attributed to primary defect(s) in a subset of angioblasts (precursor embryonic cells for the endothelial cells lining blood vessels) or in other cells supporting vascular function Authors: Dylan Hollman* Reviewers: Mina Youakim Jessica Revington Fatemeh Jafarian* * MD at time of publication **See corresponding Calgary Guide slide Localized abnormal vasculogenesis (initial creation of blood vessels during embryonic development) & vascular function Facial vascular malformations Intracranial vascular malformations Ocular vascular malformations Nevus flammeus (port-wine stain birthmark) along skin in the distribution of the trigeminal nerve (ophthalmic/maxillary branches) Leptomeningeal capillary-venous malformation (abnormal blood vessel cluster in the brain/spinal covering) Heterochromia (different colored eyes) Episcleral & conjunctival VMs (abnormal blood vessels on the eye surface) Corresponding overgrowth of cutaneous (skin) vasculature Corresponding overgrowth of underlying soft tissues & facial bones Impaired venous drainage ↓ normal blood flow in the brain & ↑ overall venous pressure, causing venous hypertension Mechanism unclear. Associated with disruption of the hypothalamic-pituitary axis Choroidal hemangioma (benign blood vessel tumor in the choroid layer of the eye) Growth hormone deficiency Nodularity (nodule growths on skin) ↑ Venous pressure & ↓ venous blood flow cause venous stasis (blood pooling in veins) ↑ Accumulation of coagulation factors in the veins contributes to an ↑ risk of thrombosis (blood clots) ↑ Venous pressure in the episclera (outer layer of the eye) contributes to ↑ intraocular pressure Hypothyroidism** ↓ Venous blood flow impairs overall circulation & ↓ tissue oxygenation (chronic tissue ischemia) Thrombi (blood clots) travel through vasculature & can further ↓ or block blood flow ↑ Intraocular pressure gradually damages the optic nerve & contributes to vision loss Stroke-like events Glaucoma Interruption of blood flow & oxygen delivery to the brain damages key areas of brain tissue & ↓ clearance of waste products Hemiparesis (weakness on one side of the body) Cerebral hemiatrophy (loss of tissue or shrinkage of one side of the brain) ↑ Risk of focal cortical dysplasia (abnormal organization of brain cells in specific brain locations) ↑ Risk of brain atrophy ↑ Intraparenchymal calcification (calcium deposits in brain tissue) Chronic damage to brain tissue & continued impairment of key neurological functions Visual field defects Seizures Intellectual disability Behavioral problems Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published October 20, 2025 on www.thecalgaryguide.com Gingival/palatal angiomatosis (abnormal blood vessel growth in gum tissue & palate) Gingival hyperplasia (overgrowth of gum tissue) Legend: Sturge-Weber syndrome (SWS): Pathogenesis and clinical findings Somatic mosaic mutations in the GNAQ gene Authors: Dylan Hollman* Reviewers: Mina Youakim Fatemeh Jafarian* * MD at time of publication Abnormal regulation of intracellular signalling pathway in early embryogenesis Unclear mechanism → Primary defect in subset of angioblasts or other vascular supporting cells Facial vascular malformations (VMs) Localized abnormal vasculogenesis & vascular function Ocular vascular malformations (VMs) Port-wine stain (flat, red or purple birthmark caused by dilated blood vessels) → commonly affects trigeminal nerve (ophthalmic/maxillary) Intracranial vascular malformations (VMs) Choroidal Heterochromi Episcleral & hemangioma a conjunctival VMs (benign tumor (different (abnormal blood Leptomeningeal of blood vessels colored eyes) vessels on the capillary-venous in the choroid eye's surface) Overgrowth of Overgrowth of malformation layer of the eye) underlying soft cutaneous (abnormal blood tissue & bone vasculature vessel cluster in the ↑ episcleral brain/spinal (eye’s outer Nodularity Gingival/palatal covering) layer) venous angiomatosis pressure (abnormal blood Gingival Glaucoma vessel growth in hyperplasia Venous hypertension gum tissue & (overgrowth of gum palate) tissue) Chronic tissue ischemia Thrombosis Hemiparesis (weakness on one side of body) Venous stasis Unclear mechanism → disruption of hypothalamic-pituitary axis Focal cortical dysplasia (abnormal brain tissue in specific areas) Intraparenchymal calcification (calcium deposits in brain tissue) Stroke-like events Hemiatrophy (loss of tissue or shrinkage on one side of body) Hypothyroidism Growth hormone deficiency Seizures Visual field defects Intellectual disability Behavioral problems Legend: Pathophysiology Mechanism Sign/Symptom/Lab Finding Complications Published MONTH, DAY, YEAR on www.thecalgaryguide.com Brain atrophy