Sturge-Weber Syndrome with Port Wine Stain and Bilateral Choroid Plexus Angiomas : A Case Report

Sturge-Weber syndrome is a rarenon-hereditary condition characterized by a hamartomatous vascular proliferation. It is usually unilateral; bilateral involvement is seen only in 15% cases. We report a case of a 6 month old male child with Sturge-Weber syndrome with its inherent clinical features and typical imaging findings.

were normal and was vaccinated for his age.His physical examination showed nevus flammeusin the midline of the face (Figure 1).The hematologic, biochemical and urinary investigations were normal.Chest and skull radiographs were normal.Abdominal ultrasonography showed no abnormality of the visceralorgans.
Non-contrast computed tomography (CT)of the brain revealed linear hyperdense areasin bilateral temporo-parietal lobes and atrophy of bilateral frontoparietal lobes (Figure 2a  anticonvulsant drugs were started.But the patient had partial seizures several times.Low amplitude polyphasic spikes and waves activity were noticed on electroencephalography.The frequency of seizures wasreduced after few days and patient was discharged.On follow-up after 5 months, patient was on anticonvulsant drugs and there was no episode of seizure.

Figure 2a and 2b: Non-contrast CT of the brain showing linear hyperdense areas in bilateral temporo-parietal lobes and atrophy of bilateral frontoparietal lobes.
Discussion: Sturge-Weber Syndrome (SWS) is a congenital but nonhereditary disease.It presents with hamarto-matousmalformations, which results due to the failure of fetal veins to develop normally in the brain, skin and eye.This leads to venous hypertensionand subsequent hypoperfusion of the underlying cortex resulting in chronic cerebral ischemia, atrophy and neurological deterioration.It occurswith equal frequency in both sexes, with seizures typically developing in the first year of life 6 with a frequency of 1:50,000.Neurological deficit is caused by the vascular malformation within the intracranial vessels. 7Glaucoma and vascular malformations involving conjunctiva, episclera, choroid and retina ate the ocular manifestations. 14ain radiograph of the skull shows confluent "tram-track" calcifications.CT shows the gyriform calcifications with cortical atrophy,enlarged and enhancing ipsilateral choroid plexus and angiomas. 8Cortical calcifications present at birth are reported in 30%. 12MRI is the best imaging modality for diagnosing SWS while calcifications can be assessed in detail on CT images.
If the onset of seizure is before the age of 2 years, it has a poor prognosis with mental retardation and refractory epilepsy. 8SWS has been reported in neonates with seizures in about 75 to 90% of patients; 11 even a case of 2 days old baby with SWS and seizure has also been reported in literature. 10Portwine stain is common in the pediatric population.According to Enjolras et al, patients with lesions located in the ophthalmic and trigeminal distribution areas are at risk for associated neuro-ocular symptoms. 11Most cases with SWS are not life threatening.It is a progressive diseaseassociated with continuous neurological deterioration. 9 can be classified in three types;type I-both facial and leptomeningeal angiomas (may have glaucoma), type IIfacial angiomas alone (may have glaucoma) and type IIIisolated leptomeningealangiomas (usually no glaucoma). 16ere is a vast list of the differential diagnosis of SWS which includes KlippelTrenaunay Weber syndrome, Rendu-Osler-Weber syndrome, Bannayan Riley Ruvalcaba syndrome, Divry Van Bogart syndrome and Cobb syndrome; however the exact differentiation among these entities is not always possible due to overlapping features in many of thesesyndromes. 12nagement of this syndrome involves both medical and surgical approaches.Medical treatment includes anticonvulsant therapy with prophylactic low dose aspirin to prevent thrombus formation.Port wine stains on the face can be treated by cosmetic surgeons, laser therapy or dermabrasion. 15

Conclusion:
SWS is diagnosed and treated on the basis of history, clinical examination and imaging modalities along with the coordination among different fields of medicine, surgery and dentistry.It is difficult to determine the exact etiology of SWS but further research in this field can help in understanding the disease and application of new treatment options.

Fig.- 1 :
Fig.-1: Photograph of the patient showing nevus flammeus on the forehead in midline.