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…
William Allen Sturge, (1850-1919) o In 1879, case of 6 year old female: presented with good health until the age of 6 months. At this age she started experiencing twitching on the left side of her body, which in time increased in frequency and duration, as well as spread to the right side of her body. She also began losing consciousness during these episodes. The child had a mark on the right side of her face and head which was referred to as “mother’s mark”.
The skin lesion involved the upper lip, nose, forehead, scalp, back of the neck, midline on the chin, upper part of the sternum, and extended as low as the third or fourth dorsal vertebra behind and the second costal cartilage in front. The lips, gums, tongue, roof of mouth, floor of mouth, uvula, and pharynx were all similarly affected on the right side. The right eye was larger (buphthalmos; congenital glaucoma) and the sclera, choroid and retina were all affected by a vascular malformation. In addition, a patch over the left eye, frontal and temporal regions. The mark was a deep purple color, with the color partially disappearing with firm pressure.
Dr. Sturge termed this mark a "port-wine". He had no proof but speculated that the patient’s neurological deficit was explained by a lesion that existed on the surface of the same side of the brain.
In 1901, Siegfried Kalischer, German neurobiologist, provided pathological proof of such an association.
• Frederick Parkes Weber, (1863-1962) o In 1922, Weber reported the first radiologic features of brain “atrophy” in the Sturge-Weber syndrome.
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
stain
• Each case is unique and exhibits characterizing findings to varying degrees
• It can affect one side (in about 85%) or both sides (in about 15%) of the body or brain.
There are 3 types of SWS:
• Type 1-Complete Trisymptomatic SWS: involves facial and leptomenigeal (brain) angiomas (vascular malformations) and may include glaucoma o Seizures and ocular involvement occur within first year of life o White portions of eye appear “bloodshot” due to over-proliferation of blood vessels o Mental and physical development can be impaired to varying degrees depending on amount of vascular birthmark throughout the brain and eye
• Type 2-Incomplete Bisymptomatic SWS: involves facial angioma and possibility of glaucoma, with no evidence of intracranial disease o No specific time-frame for exhibition of symptoms beyond initial appearance of port-wine stain o Throughout lifespan issues may develop with glaucoma, cerebral blood flow abnormalities, headaches and various other complications
• Type 3-Incomplete Monosymptomatic SWS: involves a leptomenigeal angioma with no facial involvement and usually no development of glaucoma o Commonly referred to as forme fruste o Identified through brain scans o Often confused with other diagnoses prior to brain scan with contrasting agent
Diagnostic Criteria
• Diagnosis depends on: o Facial port-wine birthmark combined with glaucoma, abnormal blood vessels in the brain, or both o Neurological, ophthalmological, dermatological, and other evaluations are recommended to make diagnosis and screen for other complications o EEG (seizures) and MRI imaging of the brain (with contrast) can diagnose brain involvement
Other tests include: Skull radiography, angiography, CT scans, and functional imaging (SPECT or PET)
Treatment
• Laser treatment to lighten or remove port-wine birthmark
• Anti-convulsants, VNS implants and brain surgery to control seizures
• Eye drops (commonly Latanoprost) or oral medications to control glaucoma o If topical or oral medications are not effective, surgery would be the next step
Goniotomy, trabeculectomy, tube-shunt, and trabeculotomy
• Physical therapy for muscle weakness
• Educational therapy for mental retardation or developmental delays
• CBT, Family Therapy and medications may be effective for behavioral, emotional and social issues
References
Pearce, J. M. S. (2006). Sturge–Weber syndrome (encephalotrigeminal or leptomeningeal angiomatosis). Journal of Neurology, Neurosurgery and Psychiatry, 77(11), 1291-1292. doi:10.1136/jnnp.2006.096578
Rare Diseases Clinical Research Network. (2012). Sturge-Weber syndrome. Retrieved from http://rarediseasesnetwork.epi.usf.edu/BVMC/SWS/ The Hunter Nelson Sturge-Weber Center. (2012). Sturge-Weber syndrome. Retrieved from http://sturgeweber.kennedykrieger.org/index.jsp The Sturge-Weber Foundation. (2012). Sturge-Weber syndrome. Retrieved from
http://www.sturge-weber.org/resources/about-sws/conditions/12-sturge-weber-syndrome.html
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…
William Allen Sturge, (1850-1919) o In 1879, case of 6 year old female: presented with good health until the age of 6 months. At this age she started experiencing twitching on the left side of her body, which in time increased in frequency and duration, as well as spread to the right side of her body. She also began losing consciousness during these episodes. The child had a mark on the right side of her face and head which was referred to as “mother’s mark”.
The skin lesion involved the upper lip, nose, forehead, scalp, back of the neck, midline on the chin, upper part of the sternum, and extended as low as the third or fourth dorsal vertebra behind and the second costal cartilage in front. The lips, gums, tongue, roof of mouth, floor of mouth, uvula, and pharynx were all similarly affected on the right side. The right eye was larger (buphthalmos; congenital glaucoma) and the sclera, choroid and retina were all affected by a vascular malformation. In addition, a patch over the left eye, frontal and temporal regions. The mark was a deep purple color, with the color partially disappearing with firm pressure.
Dr. Sturge termed this mark a "port-wine". He had no proof but speculated that the patient’s neurological deficit was explained by a lesion that existed on the surface of the same side of the brain.
In 1901, Siegfried Kalischer, German neurobiologist, provided pathological proof of such an association.
• Frederick Parkes Weber, (1863-1962) o In 1922, Weber reported the first radiologic features of brain “atrophy” in the Sturge-Weber syndrome.
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
stain
• Each case is unique and exhibits characterizing findings to varying degrees
• It can affect one side (in about 85%) or both sides (in about 15%) of the body or brain.
There are 3 types of SWS:
• Type 1-Complete Trisymptomatic SWS: involves facial and leptomenigeal (brain) angiomas (vascular malformations) and may include glaucoma o Seizures and ocular involvement occur within first year of life o White portions of eye appear “bloodshot” due to over-proliferation of blood vessels o Mental and physical development can be impaired to varying degrees depending on amount of vascular birthmark throughout the brain and eye
• Type 2-Incomplete Bisymptomatic SWS: involves facial angioma and possibility of glaucoma, with no evidence of intracranial disease o No specific time-frame for exhibition of symptoms beyond initial appearance of port-wine stain o Throughout lifespan issues may develop with glaucoma, cerebral blood flow abnormalities, headaches and various other complications
• Type 3-Incomplete Monosymptomatic SWS: involves a leptomenigeal angioma with no facial involvement and usually no development of glaucoma o Commonly referred to as forme fruste o Identified through brain scans o Often confused with other diagnoses prior to brain scan with contrasting agent
Diagnostic Criteria
• Diagnosis depends on: o Facial port-wine birthmark combined with glaucoma, abnormal blood vessels in the brain, or both o Neurological, ophthalmological, dermatological, and other evaluations are recommended to make diagnosis and screen for other complications o EEG (seizures) and MRI imaging of the brain (with contrast) can diagnose brain involvement
Other tests include: Skull radiography, angiography, CT scans, and functional imaging (SPECT or PET)
Treatment
• Laser treatment to lighten or remove port-wine birthmark
• Anti-convulsants, VNS implants and brain surgery to control seizures
• Eye drops (commonly Latanoprost) or oral medications to control glaucoma o If topical or oral medications are not effective, surgery would be the next step
Goniotomy, trabeculectomy, tube-shunt, and trabeculotomy
• Physical therapy for muscle weakness
• Educational therapy for mental retardation or developmental delays
• CBT, Family Therapy and medications may be effective for behavioral, emotional and social issues
References
Pearce, J. M. S. (2006). Sturge–Weber syndrome (encephalotrigeminal or leptomeningeal angiomatosis). Journal of Neurology, Neurosurgery and Psychiatry, 77(11), 1291-1292. doi:10.1136/jnnp.2006.096578
Rare Diseases Clinical Research Network. (2012). Sturge-Weber syndrome. Retrieved from http://rarediseasesnetwork.epi.usf.edu/BVMC/SWS/ The Hunter Nelson Sturge-Weber Center. (2012). Sturge-Weber syndrome. Retrieved from http://sturgeweber.kennedykrieger.org/index.jsp The Sturge-Weber Foundation. (2012). Sturge-Weber syndrome. Retrieved from
http://www.sturge-weber.org/resources/about-sws/conditions/12-sturge-weber-syndrome.html