eMedicine Specialties > Neurology > Pediatric Neurology

Sturge-Weber Syndrome

Author: Masanori Takeoka, MD, Assistant Professor, Department of Neurology, Harvard Medical School; Consulting Staff, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Children's Hospital Boston
Coauthor(s): James J Riviello Jr, MD, George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital
Contributor Information and Disclosures

Updated: Dec 8, 2008

Introduction

Background

The Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas involving the leptomeninges (leptomeningeal angiomas [LAs]) and skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The cutaneous angioma is called a port-wine stain (PWS).1,2,3

In the brain, LAs demonstrated by structural neuroimaging may be unilateral or bilateral4 ; unilateral angiomas are more common. Functional neuroimaging may demonstrate a greater area of involvement than structural neuroimaging.5 This is called a structural versus functional mismatch.

The neurologic manifestations vary, depending on the location of the LAs, which most commonly are located in the parietal and occipital regions, and the secondary effects of the angioma. These include seizures, which may be intractable; focal deficits, such as hemiparesis and hemianopsia, both of which may be transient, called "strokelike episodes"; headaches; and developmental disorders, including developmental delay, learning disorders, and mental retardation. Developmental disorders are more common when angiomas are bilateral. Seizure control is thought to improve the neurologic outcome, and epilepsy surgery may be beneficial for refractory seizures.

The primary complications involving the ipsilateral eye are buphthalmos and glaucoma, with treatment aimed at controlling the intraocular pressure (IOP) and preventing progressive visual loss and blindness. Cosmetic concerns are also important, and laser therapy is available for the PWS. Extracranial angiomas and soft-tissue overgrowth also may occur. Certain CNS malformations have been associated with the syndrome; other neurocutaneous disorders are included in the differential diagnosis.

SWS is referred to as complete when both CNS and facial angiomas are present and incomplete when only 1 area is affected without the other. The Roach Scale is used for classification, as follows6 :

  • Type I - Both facial and leptomeningeal angiomas; may have glaucoma
  • Type II - Facial angioma alone (no CNS involvement); may have glaucoma
  • Type III - Isolated LA; usually no glaucoma

Pathophysiology

SWS is caused by residual embryonal blood vessels and their secondary effects on surrounding brain tissue. A vascular plexus develops around the cephalic portion of the neural tube, under ectoderm destined to become facial skin. Normally, this vascular plexus forms in the sixth week and regresses around the ninth week of gestation. Failure of this normal regression results in residual vascular tissue, which forms the angiomata of the leptomeninges, face, and ipsilateral eye.

Neurologic dysfunction results from secondary effects on surrounding brain tissue, which include hypoxia, ischemia, venous occlusion, thrombosis, infarction, or vasomotor phenomenon.7,8

From a review of pathologic specimens, Norman and Schoene thought that blood flow abnormalities in the LA caused increased capillary permeability, stasis, and anoxia.9 Garcia et al and Gomez and Bebin reported that venous occlusion might actually cause the initial neurologic event, either a seizure, transient hemiparesis, or both, thereby beginning the process.10,11

A "vascular steal phenomenon" may develop around the angioma, resulting in cortical ischemia. Therefore, recurrent seizures, status epilepticus, intractable seizures, and recurrent vascular events may aggravate this steal further, with an increase in cortical ischemia, resulting in progressive calcification, gliosis, and atrophy, which in turn increase the chance of seizures and neurologic deterioration.12,13

Disease progression and neurologic deterioration may occur in SWS. Although the actual LA is typically a static anatomic lesion, Maria et al, Reid et al, and Sujansky and Conradi have clearly documented the progressive nature of SWS.14,15,16

Udani et al followed the natural course and MRI findings of 9 patients with SWS. They found that earlier onset seizures correlated with more residual neurological deficits and worse focal cerebral atrophy, while in most cases the course stabilized after 5 years of age.17  

Seizure control, aspirin therapy, and early surgical treatment may prevent neurologic deterioration.18

The main ocular manifestations (ie, buphthalmos, glaucoma) occur secondary to increased IOP with mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or increased secretion of aqueous fluid.

The etiology of SWS is unclear, although Huq et al reported evidence of somatic mosaicism in 4 patients with SWS.19 Two had skin biopsy from port-wine stains, and the other 2 had LAs from hemispherectomy. Inversion of chromosome arm 4q and trisomy 10 were seen in one patient each. Malformed cortical vessels in SWS have been reported to be innervated only by noradrenergic sympathetic nerve fibers20 , and increased endothelin-1 expression was also seen in malformed intracranial vessels. These findings may suggest increased vasoconstriction in these abnormal blood vessels, as endothelin-1 is a peptide associated with vasoconstriction.

Fibronectin is a molecule important in regulating angiogenesis, maintenance of the blood-brain barrier, blood vessel structure and function, as well as brain tissue responses to seizures. Comi et al reported that, in patients with SWS, decreased expression of fibronectin was noted in the leptomeningeal blood vessels while increased expression was noted in the parenchymal vessels. The leptomeningeal blood vessel circumference was decreased, while blood vessel density was increased in SWS.21

Overall, in SWS, a somatic mutation appears to cause alterations in regulation of the structure and function of blood vessels, innervation of the blood vessels, as well as expression of extracellular matrix and vasoactive molecules.

Frequency

United States

According to Nelson's Textbook of Pediatrics, the incidence of SWS is estimated at 1 per 50,000.22 No regional differences have been identified. The inheritance is sporadic. The incidences of the major clinical manifestations of SWS are listed in Table 1.

Table 1. Clinical Manifestations of Sturge-Weber Syndrome

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Table
Risk of SWS with facial PWS8%
SWS without facial nevus13%
Bilateral cerebral involvement15%
Seizures72-93%
Hemiparesis25-56%
Hemianopia44%
Headaches44-62%
Developmental delay and mental retardation50-75%
Glaucoma30-71%
Choroidal hemangioma40%
Risk of SWS with facial PWS8%
SWS without facial nevus13%
Bilateral cerebral involvement15%
Seizures72-93%
Hemiparesis25-56%
Hemianopia44%
Headaches44-62%
Developmental delay and mental retardation50-75%
Glaucoma30-71%
Choroidal hemangioma40%


Mortality/Morbidity

  • Neurologic and developmental morbidity includes seizures, weakness, strokes, headaches, hemianopsia, mental retardation, and developmental abnormalities. The development of seizures and the age of onset may correlate with the degree of neurologic involvement. Neurologic dysfunction increases with bilateral PWS. Patients may experience complications related to refractory seizures and anticonvulsants, visual loss and blindness from glaucoma, cosmetic deformities, and other manifestations of soft-tissue involvement.
  • Of 60 patients in the combined series from Children's Hospital, Boston, 2 deaths (3.3%) have been reported.23,24 In earlier cases reported by Erba and Cavazutti, 1 death occurred in the postoperative period, after epilepsy surgery; in recent cases, 1 death occurred secondary to intractable seizures. Oakes reported 4 deaths in 30 patients (14%).25

Race

No racial differences have been reported.

Sex

Both sexes are affected equally.

Age

  • The typical patient presents at birth with facial angiomas; however, not all children with facial angiomas and PWS have SWS, which raises certain diagnostic and prognostic concerns.
  • In the "incomplete" forms of SWS, CNS angiomas occur without cutaneous features (Type III, Roach Scale), and therefore, no suspicion of SWS arises until a seizure or other neurologic problem develops. Thus, the diagnosis of SWS is not always straightforward.

Clinical

History

The Sturge-Weber Foundation maintains a list of patients with SWS; its efforts have promoted clinical and scientific research, which have led to improvement in the treatment of SWS. This includes studies on the natural history of the disorder.26

  • Facial nevus, PWS
    • These are congenital macular lesions that can be progressive; they may be a light pink color initially and then progress to a dark red or purple nodular lesion. These may be isolated to the skin, associated with lesions in the choroidal vessels of the eye or the leptomeningeal vessels of the brain, or even located on other body areas.27 A PWS may be difficult to visualize in a patient with dark skin pigmentation.
    • Not all people with a PWS have SWS; the overall incidence of SWS has been reported to be 8-33% in those with a PWS. Several recent studies have evaluated this specifically.
    • Enjolras et al retrospectively studied 106 patients with a facial PWS, 12 of whom had SWS and 4 of whom had glaucoma without pial lesions.28 SWS occurred only when the PWS involved the V1 distribution of the trigeminal nerve. No patients with involvement of the V2 and/or mandibular (V3) area without V1 involvement had SWS. Patients considered "high risk" were those with involvement of the entire V1 area; 11 of 25 patients with full V1 involvement had SWS. Patients with only partial involvement of V1 were at low risk (only 1 of 17 patients had SWS). They concluded that SWS occurred only when the PWS involved the V1 distribution.
    • Bioxeda et al studied 121 patients with PWS affecting the skin in the distribution of the trigeminal nerve.29 Facial PWS were distributed predominantly over the distribution of the V2 branch of the trigeminal nerve in 88%, either isolated to the V2 branch or also involving the V1 and/or V3 branches. An extrafacial PWS was more common when V3 was involved. The lesions were unilateral in 86% and bilateral in 14%. Glaucoma and epilepsy were present in 23 (17%) and 17 (14%) patients, respectively, all of whom had involvement of V1. The authors concluded that only those with V1 involvement are at risk of epilepsy or glaucoma.
    • In the largest study to date, Tallman et al reported on 310 patients with PWS30 ; 85% had unilateral and 15% had bilateral involvement, and 68% had involvement of more than 1 dermatome. Only patients with PWS involving the distributions of the V1 and V2 branches of the trigeminal nerve had CNS or eye involvement. Overall, in those with trigeminal involvement, only 8% had CNS and eye involvement; 24% of those with bilateral lesions had eye or CNS involvement compared to only 6% with unilateral lesions. All patients with eye or CNS involvement had lesions on the eyelids; 91% of these had both upper and lower eyelid involvement, whereas 9% had only lower eyelid involvement. None with upper eyelid involvement alone had eye or CNS involvement. Three of 16 patients with involvement of V1, V2, and V3 had eye and/or CNS involvement. The authors recommended screening for glaucoma and CNS involvement when the PWS involved the eyelids, with unilateral V1, V2, and V3 lesions, or with bilateral lesions.
    • Patients identified by the Sturge-Weber Foundation had a different pattern of involvement—170 of 171 patients had a craniofacial PWS, with unilateral involvement in 83 (49%) and bilateral involvement in 86 (51%) patients.
    • Note that an extrafacial PWS may have associated intracranial abnormalities; for example, in Klippel-Trenaunay-Weber syndrome, neuroimaging may show findings similar to those of SWS31 , and a cervical PWS has been associated with occipital calcifications.27
  • Seizures, refractory seizures (For related information, see Medscape's Epilepsy Resource Center.)
    • The incidence of epilepsy in patients with SWS is 75-90%; seizures may be intractable. Seizures result from cortical irritability caused by cerebral angioma, through mechanisms of hypoxia, ischemia, and gliosis.
    • Dual pathology, such as microgyria, also may be present, which also contributes to epileptogenesis.
    • Garcia et al reported that a child with SWS could have an early normal neurologic course with a seizure as the presenting manifestation of a neurologic problem.10
    • In a recent survey of cases identified by the Sturge-Weber Foundation, seizures occurred in 136 of 171 patients, with a median age of onset of 6 months, ranging from birth to 23 years. About 75% had onset during the first year of life, 86% before age 2 years, and 95% before 5 years. Seizures occurred in 71% of those with unilateral and 87% of those with bilateral disease.
    • Bebin and Gomez from the Mayo Clinic reported that seizures occurred in 80% of patients (72% with unilateral versus 93% with bilateral involvement), with median ages of onset of 8.5 months in patients with unilateral PWS and 4 months in patients with bilateral PWS.32
    • Oakes reported seizures in 24 of 30 (80%) patients, with a mean age of onset of 6 months.{Ref25}
    • Pascual-Castroviejo et al reported seizures in 32 of 40 (80%) patients.33 Seizures began during a febrile illness in 10 (31%) patients (fever could be a precipitant at any age); 2 (6%) had infantile spasms.
  • Focal versus generalized seizures
    • Since the lesion responsible for the epilepsy in SWS is focal, the majority of seizures are focal seizures.
    • Bebin and Gomez reported partial seizures in 35 of 76 (46%) patients, generalized in 15 (20%), and both in 26 (34%).32
    • Pascual-Castroviejo et al reported seizures in 32 of 40 (80%) patients33 ; 22 (69%) had focal seizures contralateral to the PWS, with subsequent generalization in 6; 8 (25%) had generalized seizures at onset, and IS occurred in 2 (6%).
    • In the patients reported by the Sturge-Weber Foundation, 50% had complete control and 39% had partial control of seizures with medications. Those with a later age of seizure onset had a lower incidence of developmental delay and fewer special educational needs.
    • According to Roach, the onset of seizures prior to age 2 suggests a greater chance of refractory epilepsy and mental retardation.18 Patients with refractory seizures are more likely to have mental retardation, since those with refractory seizures have more extensive brain involvement.
    • Bebin and Gomez reported an earlier onset of seizures in those with bilateral involvement (mean ages of seizure onset were 6 months with bilateral disease and 24 months with unilateral disease).32  Pascual-Castroviejo et al showed that those with more frequent seizures tended to have an earlier seizure onset (mean seizure onset at age 5-6 months compared to a mean onset at age 2 years in those with less severe involvement).33
    • The largest series to address this issue is that reported by Sujansky and Conradi from data obtained through the Sturge-Weber Foundation.16 Overall developmental delay occurred in 97 of 168 (58%) patients; however, early developmental delay occurred in 71% of those with seizures and in only 6% of those without seizures. Those with a later seizure onset also had a lower incidence of developmental delay and fewer special education needs.
  • Status epilepticus
    • Prolonged seizures cause neurologic injury secondary to metabolic disturbances such as hypoxemia, hypoglycemia, hypotension, ischemia, and hyperthermia.
    • In an already compromised vascular system, such as a vascular steal from the angioma, seizures are more likely to cause injury, even when short. Episodes of status epilepticus are, therefore, especially dangerous in SWS.34
  • Hemiparesis: The incidence is approximately 33%, varying from 25-56%; it occurs secondary to ischemia with venous occlusion and thrombosis. Commonly, transient weakness may occur with seizures and may increase with recurrent seizures. Transient hemiplegia may be accompanied by migraine headache, suggesting a vascular mechanism.
  • Strokelike episodes: Transient episodes are referred to as strokelike episodes. These occurred in 14 of 20 patients described by Maria et al.14 Garcia et al reported recurrent thrombotic episodes.10 Stroke also may occur. The incidence of neurologic deficit is higher in adults; Sujansky and Conradi reported an occurrence in 34 of 52 (65%) patients35 , which also demonstrates the progressive nature of SWS.
  • Hemianopsia: The mechanism is similar to that of hemiparesis and is dependent on the location of the lesions. Uram and Zullabigo reported hemianopsia in 11 of 25 (44%) patients.36
  • Developmental delay and mental retardation
    • These are related to the degree of neurologic involvement, occurring in 50-60% of patients; they are more likely in patients with bilateral involvement.4
    • Bebin and Gomez reported normal mental functioning in only 8% of those with bilateral disease.32
    • In a detailed study of 10 patients with SWS, Maria et al found developmental delay and learning problems in all 10 and attention deficit hyperactivity disorder in 3.37 Using a combination of CT scan, MRI, and functional imaging with single-photon emission computed tomography (SPECT), widespread abnormalities were found in 7 of 10 patients, a much higher incidence of bilateral involvement than detectable by any one diagnostic modality, accounting for the high incidence of developmental delay, mental retardation, and learning problems seen in this disorder.
    • Seizures are associated with a higher incidence of mental retardation, and regression also may be related to the frequency and severity of seizures.
  • Headaches (For related information, see Medscape's Headache Resource Center.)
    • These occur secondary to vascular disease, giving symptoms of a migraine headache, considered "symptomatic migraine."
    • In the study by the Sturge-Weber Foundation, headaches occurred in 132 of 171 (77%) patients of all ages and in 28 of 45 (62%) adults. In the reports by Maria et al, headaches occurred in 60%.
    • In a specific study of headaches in SWS reported by Klapper, 71 patients identified by the Sturge-Weber Foundation responded to a questionnaire about headaches.38 Migraine headache occurred in 28%, and neurologic deficits occurred in 58% during the migraine. The prevalence of migraine in children younger than 10 years was 31% in children with SWS, much greater than the 5% prevalence in the general population.
  • Ocular manifestations, glaucoma and blindness.39,40
    • Glaucoma typically occurs in SWS only when the PWS involves the eyelids. The incidence ranges from 30-71%. Glaucoma may be present at birth but can develop at any age, even in adults.
    • Treatment includes yearly examinations, looking for optic nerve damage (with measurement of IOP and visual fields) and corneal diameter and refractive changes in children.
    • Glaucoma usually occurs only with an ipsilateral facial PWS, although it may be bilateral when facial involvement is bilateral. Contralateral glaucoma may develop, although rarely. Glaucoma also may occur without neurologic involvement (Type II, Roach Scale).
    • Sullivan et al reviewed ocular abnormalities in 51 patients with SWS41 . Of these, 36 (71%) had glaucoma, with onset before age 24 months in 26 patients; 35 (69%) had conjunctival or episcleral hemangiomas; and 28 had choroidal hemangiomas.
    • With time, choroidal hemangioma may cause other secondary changes such as retinal pigment epithelium degeneration, fibrous metaplasia, cystic retinal degeneration, and retinal detachment. Also retinal vascular tortuosity, iris heterochromia, optic disc coloboma, and cataracts have been seen in patients with SWS.
    • The Sturge-Weber Foundation data show that 82 of 171 (48%) patients had glaucoma; of these, 61% developed glaucoma during the first year of life; a second peak occurred in children aged 5-9 years, when it developed in another 11 (15%) patients.
    • Glaucoma in SWS is produced by mechanical obstruction of the angle of the eye, elevated episcleral venous pressure, or hypersecretion of fluid by either the choroidal hemangioma or ciliary body. The anterior chamber angle abnormality is consistently seen in the infantile glaucoma cases in SWS, while increased episcleral venous pressure may have a key role in late-onset glaucoma cases in SWS. Decreased vision and blindness result from untreated glaucoma, with increased IOP leading to optic nerve damage. An acceptable range of IOP is 10-22 mm Hg.
  • Buphthalmos (hydrophthalmia): Enlargement of the eye occurs from the same mechanisms as glaucoma.
  • PWS, cosmetic problems, soft-tissue hypertrophy: The Sturge-Weber Foundation survey indicated that other abnormalities occurred in all 171 patients. These included other cutaneous lesions in all patients and body asymmetry in 164 of 171 patients, with soft-tissue hypertrophy in 38 of 164 patients and scoliosis in 11 patients. Basal cell carcinoma has been reported to occur within a PWS.42
  • Adults with SWS
    • Few data are available on adults with SWS. Sujansky and Conradi studied the outcomes in 52 adults older than 18 years who had SWS and were identified by the Sturge-Weber Foundation.35 Seizures occurred in 83%, glaucoma in 60%, and a neurologic deficit in 65%, including stroke, paralysis, spasticity, or weakness. The age of onset of seizures ranged from 0-23 years, with a median of 6 months. Seizure outcome was known in 41 patients, with full control in 11 (27%), decreased seizures in 20 (49%), and no improvement in 10 (24%) patients. The morbid conditions associated with these seizures are listed in Table 2. About 39% of these individuals were financially self-sufficient and 55% would or could be married.
    • Headache occurred in 28 of 45 (62%) patients, the onset ranging from early childhood to age 38 years, with a median age of onset of 18 years. The headache frequency could be determined in 23 patients: daily in 9 (39%) patients, 1-4 times per week in 4 (17%), 1-2 times per month in 6 (26%) patients, and rare in 4 (17%).
    • Headaches were associated with increased discoloration of facial PWS, auras, nausea/vomiting, dysarthria, dizziness, and feelings of facial pulsation.
    • The age of onset of glaucoma ranged from 0-41 years, with a median of 5 years. Table 2. Developmental Morbidity Associated with Seizures in Adults with SWS

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      Table
      With Seizures (%)Without Seizures (%)
      Developmental delay450
      Emotional/behavioral problems8558
      Need for special education710
      Employability4678
      With Seizures (%)Without Seizures (%)
      Developmental delay450
      Emotional/behavioral problems8558
      Need for special education710
      Employability4678

Physical

  • PWS (see Picture 1)
  • Macrocephaly
  • Eye - Buphthalmos, heterochromia of iris, tomato-catsup color of the fundus (ipsilateral to the nevus flammeus) with glaucoma, possibility of choroidal angioma visible with an ophthalmoscope
  • Soft-tissue hypertrophy
  • Neurologic signs
    • Developmental delay/mental retardation
    • Learning problem
    • Attention deficit hyperactivity disorder
  • Hemiparesis
  • Visual loss
  • Hemianopsia

More on Sturge-Weber Syndrome

Overview: Sturge-Weber Syndrome
Differential Diagnoses & Workup: Sturge-Weber Syndrome
Treatment & Medication: Sturge-Weber Syndrome
Follow-up: Sturge-Weber Syndrome
Multimedia: Sturge-Weber Syndrome
References
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Further Reading

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Keywords

Sturge-Weber syndrome, encephalotrigeminal angiomatosis, encephalofacial angiomatosis, Sturge-Weber-Dimitri syndrome, SWS, neurocutaneous disorder, angiomas, leptomeningeal angiomas, port-wine stain, PWS, cutaneous angioma

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Contributor Information and Disclosures

Author

Masanori Takeoka, MD, Assistant Professor, Department of Neurology, Harvard Medical School; Consulting Staff, Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Children's Hospital Boston
Masanori Takeoka, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Medical Association, Child Neurology Society, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Coauthor(s)

James J Riviello Jr, MD, George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital
James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Robert Baumann, MD, Program Director, Professor, Departments of Neurology and Pediatrics, University of Kentucky
Robert Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American College of Epidemiology, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Neurology, Division of Pediatrics, Department of Pediatrics, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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