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Amyotrophic lateral sclerosis
von Hippel-Lindau disease
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Transient ischemic attack
Cavernous sinus thrombosis
Spinocerebellar ataxia (NORD)
Tethered spinal cord syndrome
Lewy body dementia
Normal pressure hydrocephalus
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Idiopathic intracranial hypertension
Opsoclonus myoclonus syndrome (NORD)
Restless legs syndrome
Early infantile epileptic encephalopathy (NORD)
Cauda equina syndrome
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Spinal muscular atrophy
Carpal tunnel syndrome
Thoracic outlet syndrome
Lambert-Eaton myasthenic syndrome
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
Sturge Weber Syndrome
Sturge-Weber & Tuberous Sclerosis
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.
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.
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