P89 Sturge-weber syndrome in two infants with different outcome

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Abstract

Background and aims

Sturge-Weber syndrome is a congenital disorder associating capillary malformations of the face (port-wine birthmark of forehead and/or eyelid) with cerebral leptomeningeal angiomatosis and with glaucoma. When the capillary malformation involves the forehead to one side and/or the upper eyelid, that patient is at risk for brain and/or eye involvement. The clinical course varies and children can develop intractable seizures, mental retardation. This study analyse the association between facial cutaneous malformation, neurological involvement, cerebral leptomeningeal angiomatosis and glaucoma.

Methods

This study presents two infants with facial cutaneous vascular abnormality. Patients were evaluated clinically, by transfontanelar Doppler ultrasound, then MRI.

Results

Both infants presented facial port-wine birthmark affecting the central forehead and the upper eyelids. The first patient presented the birthmark on both sides of the face, trunk and left limbs. MRI documented in both cases intracranial leptomeningeal angiomatosis, with bilateral brain involvement in the first infant versus unilateral brain involvement in the second patient. The first infant, 2 months of age developed focal seizures, needing anticonvulsant treatment. In the next months he repeated severe seizures, more anticonvulsants being required (phenobarbital, phenytoin, valproat, levetiracetam). The ophthalmologic exam proved glaucoma, needing trabeculotomy. The second infant, 2 months of age, did not develop seizures, being without treatment. His EEG showed right sided abnormality, raising the question for the need of one anticonvulsant and low-dose aspirin therapy.

Conclusion

Our study presents 2 infants with Sturge-Weber syndrome, both with leptomeningeal angiomatosis, having a very different neurologic presentation and outcome. One of the infants has the two factors previously proven to provide prognostic value, namely bilateral brain involvement and early onset of seizures, difficult to control. Risk increases with the size of the birthmark, as this infant presents. Treatment options for these infants are challenging.

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