  Case of the Week - Patient Summary 12716
Peer Reviewed and Certified - |
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| Demographics: 17 y.o. boy |
| History & Chief complaint: |
17-year-old boy with seizure disorder.
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| Physical exam and Laboratory: |
L-sided weakness
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| Summary of Findings: |
Head CT and brain MR images reveal gyriform calcification over the right cerebral cortex. MR findings demonstrate gyriform signal loss suggestive of calcification in association with leptomeningeal enhancement and ipsilateral choroid plexus enlargement.
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| Differential Diagnosis: |
• Sturge-Weber syndrome
• Meningitis/Meningoencephalitis
• TORCH infection (e.g. herpes HSV2)
• Treated brain tumor
• Meningioangiomatosis (NF2)
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• Dyke-Davidoff-Masson syndrome (perinatal carotid artery occlusion)
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| Diagnosis: |
 Sturge Weber Syndrome
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| Confirmed by: Imaging and history |
| Treatment and Followup: |
Treat seizures. Surgical excision of affected lobes may be required in refractory cases.
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| Patient Specific Discussion: (Also Read the Disease Discussion) |
Sturge Weber syndrome (aka encephalotrigeminal angiomatosisis) one the phakomatoses with skin, CNS, and ocular involvement.
The classic clinical symptoms include seizures (90%), contralateral hemiparesis (30%-66%), hemisensory defect, and developmental delay (>40% if seizures present); association with subarachnoid hemorrhage is rare. A facial nevus ("port-wine stain") can be seen with V1/V2 distribution and is present at birth. Homonymous hemianopsia seen in 2%.
Classic imaging findings can include cortical calcifications (“tram track”), ipsilateral hemiatrophy with cortical and white matter gliosis, leptomeningeal angiomatosis (ipsilateral in 80%), and an enlarged enhancing ipsilateral choroid plexus. Ipsilateral cerebral atrophy with "gyriform" cortical calcification usually worsens as the disease progresses. Choroidal angiomas present in 70% of cases.
This disorder is thought to result from a defect in neural crest precursor cells which result in abnormal venous drainage in the meninges, globe, and dermis.
Typically the occipital lobes are affected first, and most severely; however, the disease may also involve the parietal and temporal lobes, and the frontal lobes. Midbrain and cerebellum are rarely involved.
Associated disorders include Klippel-Trenaunay-Weber syndrome and neuronal migration anomalies (polymicrogryia, pachygyria, and lissencephaly).
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| Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is a congenital disorder associated with a facial nevus, ipsilateral leptomeningeal angiomatosis and intracranial calcifications, and a high incidence of mental retardation and ocular complications. A facial nevus flammeus (port-wine stain) most commonly follows the distribution of the ophthalmic branch of the trigeminal nerve and is present at birth and does not change with time. Patients tend to develop normally until their first seizure episode. It is thought that the seizures develop due to ischemic injury to the area of the brain underlying the meningeal angiomas. Other associated symptoms are hemiparesis, hemanopsia, glaucoma and mental retardation. Leptomeningeal angiomatosis and intracranial calcifications are often discovered on radiologic imaging studies. Early in the course of the disease, MRI and CT can be used to identify the ipsilateral intracranial calcifications, but in an older child, “tram-track” lesions can be seen in the cerebral cortex on plain radiographs. An important consideration to keep in mind is that although most patients with Sturge-Weber syndrome have a facial nevus, most patients with a facial nevus do NOT have Sturge-Weber. If a patient presents with a facial port wine stain and seizures, SWS should be considered and CT scans should be done. Eye finding include buphthalmos (enlargement of the cornea) and angiomatous malformations of the choroids. Treatment is essentially to attempt to control the seizures although they are often refractory to treatment with time. Pulse dye laser can also be used to cosmetically remove port wine stains. |
