Sturge-Weber syndrome
10,990views
00:00 / 00:00
Videos
Notes
Sturge-Weber syndrome
Pathology
Central nervous system disorders
Spina bifida
Chiari malformation
Dandy-Walker malformation
Syringomyelia
Tethered spinal cord syndrome
Aqueductal stenosis
Septo-optic dysplasia
Cerebral palsy
Spinocerebellar ataxia (NORD)
Transient ischemic attack
Ischemic stroke
Intracerebral hemorrhage
Epidural hematoma
Subdural hematoma
Subarachnoid hemorrhage
Saccular aneurysm
Arteriovenous malformation
Broca aphasia
Wernicke aphasia
Wernicke-Korsakoff syndrome
Kluver-Bucy syndrome
Concussion and traumatic brain injury
Shaken baby syndrome
Epilepsy
Febrile seizure
Early infantile epileptic encephalopathy (NORD)
Tension headache
Cluster headache
Migraine
Idiopathic intracranial hypertension
Trigeminal neuralgia
Cavernous sinus thrombosis
Alzheimer disease
Vascular dementia
Frontotemporal dementia
Lewy body dementia
Creutzfeldt-Jakob disease
Normal pressure hydrocephalus
Torticollis
Essential tremor
Restless legs syndrome
Parkinson disease
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Multiple sclerosis
Central pontine myelinolysis
Acute disseminated encephalomyelitis
Transverse myelitis
JC virus (Progressive multifocal leukoencephalopathy)
Adult brain tumors
Acoustic neuroma (schwannoma)
Pituitary adenoma
Pediatric brain tumors
Brain herniation
Brown-Sequard Syndrome
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Syringomyelia
Friedreich ataxia
Neurogenic bladder
Meningitis
Neonatal meningitis
Encephalitis
Brain abscess
Epidural abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Central and peripheral nervous system disorders
Sturge-Weber syndrome
Tuberous sclerosis
Neurofibromatosis
von Hippel-Lindau disease
Amyotrophic lateral sclerosis
Peripheral nervous system disorders
Spinal muscular atrophy
Poliovirus
Guillain-Barre syndrome
Charcot-Marie-Tooth disease
Trigeminal neuralgia
Bell palsy
Winged scapula
Thoracic outlet syndrome
Carpal tunnel syndrome
Ulnar claw
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Myasthenia gravis
Lambert-Eaton myasthenic syndrome
Autonomic nervous system disorders
Orthostatic hypotension
Horner syndrome
Nervous system pathology review
Congenital neurological disorders: Pathology review
Headaches: Pathology review
Seizures: Pathology review
Cerebral vascular disease: Pathology review
Traumatic brain injury: Pathology review
Spinal cord disorders: Pathology review
Dementia: Pathology review
Central nervous system infections: Pathology review
Movement disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Demyelinating disorders: Pathology review
Adult brain tumors: Pathology review
Pediatric brain tumors: Pathology review
Neurocutaneous disorders: Pathology review
Assessments
Sturge-Weber syndrome
Flashcards
0 / 10 complete
USMLE® Step 1 questions
0 / 2 complete
High Yield Notes
13Â pages
Flashcards
Sturge-Weber syndrome
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
Memory Anchors and Partner Content
External References
First Aid
2022
2021
2020
2019
2018
2017
2016
Epilepsy
Sturge-Weber syndrome p. 543
Glaucoma p. 555
Sturge-Weber syndrome p. 543
Nevus flammeus
Sturge-Weber syndrome p. 543
Sturge-Weber syndrome p. 543, 719
External Links
Transcript
Sturge-Weber syndrome is a congenital neurocutaneous disorder named after William Sturge and Frederick Weber, the first physicians to describe it.
Neurocutaneous because it affects the brain and the skin.
In fact, Sturge-Weber syndrome is also called encephalotrigeminal angiomatosis; encephalo- refers to the brain, trigeminal refers to the trigeminal or fifth cranial nerve, and angiomatosis refers to a vascular malformation.
That’s because in Sturge-Weber syndrome there are too many capillaries in the meninges covering the brain, as well as in some areas of the face that are innervated by the trigeminal nerve, like the forehead and upper eyelid.
Finally, in Sturge-Weber syndrome there’s often a congenital mark - a birthmark - called a port-wine stain.
When the embryo is one week old, it has two layers of cells: a dorsal or outer epiblast layer and a ventral or inner hypoblast layer.
During week 3 of development the embryo undergoes gastrulation where the cells in the epiblast layer form a three layered trilaminar disc with an ectoderm, mesoderm and endoderm layer.
The ectoderm is the dorsal most germ layer, and through a process called neurulation forms the neural tube.
From the neural tube, neural crest cells migrate to help form the central and peripheral nervous systems, as well as the cornea of the eyes and the epidermis layer of the fetal skin.
During week 6 of development, as the cephalic portion of the neural tube grows, a network of tiny blood vessels called a vascular plexus develops, to better supply that neural tissue.
There’s a gene called the GNAQ gene which codes for a guanine nucleotide-binding protein, and that protein is involved in development of the vascular plexus.
Summary
Sturge-Weber syndrome (SWS) is a rare neurological disorder caused by a mutation of the GNAQ gene and is characterized by the abnormal development of many capillaries in the meninges covering the brain, as well as in some areas of the face innervated by the trigeminal nerve, like the forehead and upper eyelid. The eye on the affected side may also develop glaucoma, with increased pressure in the eye, causing reduced vision or even blindness. There may also be brain atrophy, seizures, and muscle weakness, as well as developmental delay. There is no known cure for SWS, but symptomatic treatment may include anticonvulsants, hemispherectomy to remove the affected portion of the brain, and drugs like latanoprost to manage glaucoma.
Copyright © 2023 Elsevier, except certain content provided by third parties
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
