Sturge-Weber Syndrome Research Paper
Sturge-Weber Syndrome
Sturge–Weber Syndrome (SWS), also referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateralleptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. SWS is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. SWS occurs sporadically and does not have a hereditary etiology. It is caused by a somatic activating mutation occurring in the GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) gene.
Historical and Neurobiological Aspects
• …show more content…
X-ray findings showed intracranial calcifications
Key Signs and Symptoms
• Characterized by congenital facial birthmark and neurological abnormalities o Manifested at birth by port-wine stain on forehead and upper eyelid of one side of the face.
The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve.
Malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark.
• This causes calcification of tissue and loss of nerve cells in the cerebral cortex.
• Typically located on the back of the occipital region of brain on same side as birthmark.
Neurological symptoms include: seizures begin at birth and worsen with age, muscle weakness or loss of use on side of body opposite of port wine stain, and development delay of motor and cognitive skills may occur to varying degrees.
• Other symptoms include eye and internal organ irregularities o Glaucoma (70%) and choroidal lesions (40%) o Enlarging of the eye (buphthalmos) in eye affected by
Sturge–Weber Syndrome (SWS), also referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateralleptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected. SWS is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development. SWS occurs sporadically and does not have a hereditary etiology. It is caused by a somatic activating mutation occurring in the GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) gene.
Historical and Neurobiological Aspects
• …show more content…
X-ray findings showed intracranial calcifications
Key Signs and Symptoms
• Characterized by congenital facial birthmark and neurological abnormalities o Manifested at birth by port-wine stain on forehead and upper eyelid of one side of the face.
The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the ophthalmic branch of the trigeminal nerve.
Malformation of blood vessels in the pia mater overlying the brain on the same side of the head as the birthmark.
• This causes calcification of tissue and loss of nerve cells in the cerebral cortex.
• Typically located on the back of the occipital region of brain on same side as birthmark.
Neurological symptoms include: seizures begin at birth and worsen with age, muscle weakness or loss of use on side of body opposite of port wine stain, and development delay of motor and cognitive skills may occur to varying degrees.
• Other symptoms include eye and internal organ irregularities o Glaucoma (70%) and choroidal lesions (40%) o Enlarging of the eye (buphthalmos) in eye affected by