eMedicine Specialties > Neurology > Pediatric Neurology

Sturge-Weber Syndrome: Differential Diagnoses & Workup

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

Differential Diagnoses

Complex Partial Seizures
Partial Epilepsies
Epilepsia Partialis Continua
Seizures and Epilepsy: Overview and Classification
First Seizure: Pediatric Perspective
Simple Partial Seizures
Headache: Pediatric Perspective
Status Epilepticus
Identification of Potential Epilepsy Surgery Candidates
Tonic-Clonic Seizures
Migraine Headache
Vagus Nerve Stimulation
Migraine Headache: Pediatric Perspective
Neuro-ophthalmic History
Neuroimaging in Epilepsy Surgery

Other Problems to Be Considered

Headache, chronic

Vascular malformations and hematomas of the brain

PWS - May be isolated, occurring without SWS

Arteriovenous malformation43 - May calcify

Macrocephaly with SWS - Related to hydrocephalus or intracranial hypertension, secondary to the abnormal venous drainage

Cyst of the posterior fossa with partial cerebellar agenesis in association with facial angiomas - Angioma flat or tuberous, lies in the territory of the first division of the trigeminal nerve; may be familial

Epilepsy with bilateral occipital calcifications - Incomplete SWS versus celiac disease44

Klippel-Trenaunay-Weber syndrome - Hemihypertrophy and hemangiomas; may occur with SWS; however, Klippel-Trenaunay-Weber associated with choroid plexus enhancement, atrophy, calcifications, and leptomeningeal enhancement

Rendu-Osler-Weber syndrome - Hereditary hemorrhagic telangiectasia

von Hippel-Lindau syndrome - Cerebellar or spinal hemangioma with retinal angioblastoma, pancreatic cysts, and renal cell carcinoma

Wyburn-Mason syndrome - Retinal arteriovenous angioma

Shapiro-Shulman syndrome - Bilateral facial nevi and abnormal venous drainage

Divry-van Bogaert syndrome - Leptomeningeal angioma (noncalcifying) with diffuse sclerosis, progressive neurologic disorder, and livedo reticularis

Bannayan-Zonna syndrome - Macrocephaly, lipomatosis, cutaneous hemangiomas

Cobb syndrome - Cutaneomeningospinal angiomatosis

Workup

Laboratory Studies

Cerebrospinal fluid (CSF) protein may be elevated, presumably secondary to microhemorrhage. Note that a major intracranial hemorrhage itself is rare in SWS, although microhemorrhage may be common.

Imaging Studies

  • Neuroimaging studies: Besides the clinical examination, these have been the procedures of choice to establish the diagnosis. Historically these are skull radiograph, angiography, CT scan, MRI, MRI with gadolinium, and functional imaging with SPECT or positron emission tomography (PET).45,18
  • Skull radiograph
    • The skull radiograph may show the classical "tram-line," or "tram-track" or "trolley-track," calcifications considered pathognomonic for SWS in the era prior to modern neuroimaging; however, these are often a late finding and may not be present initially.
    • Wilms et al reported tram-track calcifications in tuberous sclerosis with calcification located in extensive cortical tubers46 ; Borns and Rancier reported these in childhood leukemia.47
  • Angiography: Angiography does not show the angioma but demonstrates a lack of superficial cortical veins, nonfilling of dural sinuses, and abnormal, tortuous veins that course toward the vein of Galen.
  • CT scan: CT scan may show calcifications in infants and even neonates; other findings include brain atrophy, ipsilateral choroid plexus enlargement, abnormal draining veins, and a breakdown of the blood-brain barrier with seizures. In a study of CT scans in 14 children with SWS by Terdjman et al, cortical calcifications were present in 12 patients (see Media file 2), localized atrophy in 10 patients, and enlargement of the choroid plexus and abnormal veins in 7 patients each.48
  • MRI
    • Although MRI does not show calcifications, gadolinium enhancement may show pial angioma; therefore, MRI may permit early diagnosis of SWS, even in the newborn with a facial PWS.49 Sugama et al reported that the most characteristic finding of SWS on MRI is enhancement of LAs following gadolinium50 , which may show an LA not seen on CT scan or angiography (see Media file 3); however, Fischbein reported that gadolinium enhancement may not be seen in every case.51
    • Other MRI findings include accelerated myelination around the LA52 , a large choroid plexus whose size correlates with the extent of the LA53 , and progressive sinovenous occlusion on MR venography. Of note, Benedikt et al reported pial angiomatosis with adjacent cortical atrophy on MRI in 4 patients in whom unenhanced MRI or CT scan was normal or showed only nonspecific findings.54
    • Juhasz et al reported that cerebral hemisphere white matter volume, ipsilateral to the angioma was an independent predictor of IQ, and that loss of such white matter volume may play a significant role in cognitive impairment in children with SWS.55
    • Bernal and Altman reported abnormal activation patterns in the occipital areas on functional MRI in patients with SWS.56
    • Lin et al reported perfusion MRI findings compatible with impaired venous drainage in an early case of SWS with new-onset seizures.57 MR spectroscopy showed increased choline but no reduction in N- acetyl aspartate (NAA). Other reports of MR spectroscopy have shown decreased NAA; Cakirer et al showed decreased NAA and increased choline in a patient with SWS, while the abnormal area also showed increased apparent diffusion coefficient (ADC) on diffuse MRI.58 Regarding the MR spectroscopy findings in these studies, the decreased NAA was considered as neuronal loss of dysfunction, and the elevated choline as a lack of normal development.
    • Mentzel et al reported that blood-oxygen-level-dependent (BOLD) MR venography may be sensitive in detecting early venous abnormalities in a case of SWS (earlier than conventional MRI sequences).59
    • Sivaswamy et al reported diffusion tensor imaging (DTI) abnormalities in the corticospinal tract of the affected hemisphere, which were seen before severe motor deficits develop.60
  • Single-photon emission computed tomography 
    • This measures cerebral blood flow, demonstrates underperfusion in the area of the pial angioma, and therefore may detect a latent angioma not seen with other studies (see Media file 4 and Media file 5). With SPECT, Reid et al demonstrated hypoperfusion before calcifications, anomalous drainage, or enhancement developed on either CT scan or MRI.15 Griffiths et al showed that MRI and SPECT together might reveal different areas of involvement.61
    • Namer et al demonstrated a steal phenomenon during seizures, causing ischemia in remote areas, with subtraction ictal SPECT coregistered to MRI (SISCOM).62
    • Pinton demonstrated that the cortex is hyperperfused during the first year of life before the first seizures, with the classic hypoperfusion appearing after 1 year of age, even in those without epilepsy.63
    • Maria et al reported that enlargement of the choroid plexus correlates with abnormalities seen with SPECT.45
  • Positron emission tomography: In a pre-MRI study by PET scan, Chugani et al demonstrated metabolic abnormalities in the structurally affected hemisphere that extended beyond the anatomic abnormalities detected by CT scan.64 This result suggested that PET might help identify suitable candidates for hemispherectomy or focal cortical resection.
  • Combination of modalities
    • Juhasz et al studied 13 children with SWS using susceptibility weighted images (SWI) and DTI, in conjunction with PET. SWI detected cortical abnormalities and deep transmedulary veins in the white matter adjacent to the hypometabolic regions. DTI detected abnormalities in the hypometabolic cortex and the adjacent white matter with collateral veins.65
  • Other modalities
    • Riela et al studied the xenon Xe 133 inhalation technique in 4 patients with SWS and demonstrated decreased regional perfusion in the area of the LA, with impaired vasomotor reactivity documented in 2 patients.66 Decreased flow was prominent in 2 younger patients with normal neurologic status, suggesting that the blood flow abnormality may actually precede neurologic symptoms and may therefore cause or at least contribute to the deterioration.
    • Recently, with quantitative proton magnetic resonance spectroscopy, Moore et al demonstrated an ipsilateral reduction of N- acetyl-aspartate, a neuronal marker, suggesting neuronal loss.67
  • Summary of neuroradiologic findings: The maximum extent of disease may require a combination of structural and functional neuroimaging, since a mismatch may exist among neuroimaging modalities. Each modality may demonstrate abnormalities not detected by the other. This is especially important in the identification of the epileptogenic region when considering surgery for refractory seizures.

Other Tests

  • EEG is used for evaluation of seizures and for localization of seizure activity in refractory seizures when epilepsy surgery is considered.
    • Brenner and Sharbrough reported unilateral reduction of background amplitude as the most consistent finding, in both the waking and sleep states, with activation procedures (hyperventilation and photic driving) decreased on the involved side.68 EEG findings predated calcifications. Epileptiform activity was limited to the involved hemisphere.
    • In a recent study, Sassower et al reported marked voltage attenuation in the region of the angioma in 13 of 14 patients69 ; polymorphic delta activity (PDA) occurred in 12 of 14 patients; in those with PDA, it was unilateral in 6 and correlated with the angiomatosis, and none with unilateral PDA had mental retardation. In 6 with bilateral PDA, 4 had mental retardation despite a unilateral angioma. Interictal spikes occurred in only 2 patients and were bilateral in 1 patient with unilateral disease. Seizures were recorded in 4 patients, and the ictal activity came from the periphery of the lesion. The seizures were refractory to treatment in 6 of 14 patients.
    • Erba and Cavazzuti reported that late in the course of the syndrome, epileptiform activity might occur from the contralateral cortex.{Ref23}
    • In a study conducted at Toronto, the EEG was normal in only 4%, background suppression occurred in 74% (unilateral in 64% and bilateral in 10%), and epileptiform discharges occurred in 22%.
    • Jansen et al reported asymmetry in beta activity before and after diazepam administration in brain regions that structurally appeared intact70 ; they suggested that diazepam-enhanced EEG may provide information on functional involvement and monitor progression of the disease.
  • Findings in the work-up of SWS are summarized in Table 3. Table 3. Summary of Work-up Findings in Sturge-Weber Syndrome

    Open table in new window

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    Table
    CSF analysisElevated protein
    Skull x-rayTram-track calcifications
    AngiographyLack of superficial cortical veins
    Nonfilling dural sinuses
    Abnormal, tortuous vessels
    CT scanCalcifications, tram-track calcifications
    Cortical atrophy
    Abnormal draining veins
    Enlarged choroid plexus
    Blood-brain barrier breakdown (during seizures)
    Contrast enhancement
    MRIGadolinium enhancement of LA
    Enlarged choroid plexus
    Sinovenous occlusion
    Cortical atrophy
    Accelerated myelination
    SPECTHyperperfusion, early
    Hypoperfusion, late
    PETHypometabolism
    EEGReduced background activity
    Polymorphic delta activity
    Epileptiform features
    CSF analysisElevated protein
    Skull x-rayTram-track calcifications
    AngiographyLack of superficial cortical veins
    Nonfilling dural sinuses
    Abnormal, tortuous vessels
    CT scanCalcifications, tram-track calcifications
    Cortical atrophy
    Abnormal draining veins
    Enlarged choroid plexus
    Blood-brain barrier breakdown (during seizures)
    Contrast enhancement
    MRIGadolinium enhancement of LA
    Enlarged choroid plexus
    Sinovenous occlusion
    Cortical atrophy
    Accelerated myelination
    SPECTHyperperfusion, early
    Hypoperfusion, late
    PETHypometabolism
    EEGReduced background activity
    Polymorphic delta activity
    Epileptiform features
  • Endocrinologic tests: The Sturge-Weber Foundation notes increasing use of growth hormone in its members. Some have developed a body habitus similar to that in Cushing syndrome. This has occurred around the time of puberty.

Histologic Findings

The leptomeninges appear thickened and discolored by the LA, which fills the subarachnoid space, and abnormal venous structures are seen. Biopsies typically are not performed in SWS. However, pathologic specimens, such as those examined by Norman and Schoene, show calcium deposits in the cerebral vessel walls, in perivascular tissue and, rarely, within neurons, and neuronal loss and gliosis occur.9 These pathologic abnormalities may occur at a distance from the actual vascular lesion.

Di Trapeni et al, from epilepsy surgery cases, reported a mucopolysaccharide substance with calcium in the connective tissue of the vessels early on, that later increases in size and migrated outside the vessels.71 They postulated that anoxia, necrosis, and variations in calcium concentrations act only as secondary factors.

Hoffman et al have shown aluminum within the calcium concretions.72

Simonati et al have reported 4-layered microgyria below the angiomatosis.73

In skin biopsies of the port-wine stain in SWS, dilated ecstatic thin-walled vessels are seen in the superficial vascular plexus, but with no increase in the number of blood vessels.

In trabeculectomy specimens in patients with SWS, abnormal collagen depositions and abundant vessels in the intra-trabecular spaces have been seen morphological abnormalities in the Schlemm canal. Hemangiomas in the trabecular meshwork are characteristic of SWS.

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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