Abstracts

Rationale: OBJECTIVE: To present a case of Type III SWS and describe the characteristics which differentiate it from type I. We consider that clinical evaluation continue to be the most important tool in its complex neurological management. Methods: INTRODUCTION: The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber Syndrome (SWS). The incidence of SWS is 1/50,000 live births, although it is more often under reported. It has been classified into three types, type I (facial and leptomeningeal angioma with possible glaucoma), type II (facial angioma without evident endocranial involvement), and type III (exclusive leptomengial angioma). It is not a heritable disorder. Results: CLINICAL CASE: We describe the case of a 3 year old girl with left homonymous hemianopsia and mild left hemiparesis since birth and with normal neurological development that first came to medical attention at 5 months of age due to prolong lethargy in the context of low grade fever. Her brain MRI revealed right cerebral hemisphere smaller than left and nonspecific enhancement in the right medial occipital parietal sulci of indeterminate etiology possible cortical migrational anomaly or Sturge Weber syndrome. (Figure 1). Her EEG was normal. (Figure 2). She repeated the episode at 21 months of age when she had a complex partial seizure in the context of a viral illness. Her head CT showed right cerebral and hemicranial volume loss and coarse dystrophic calcifications of the right temporo parieto occipital lobes (Figure 3). Her EEG showed spikes right centro-temporal (Figure 4).Her development continues to be normal. 3 months later she had her first afebrile seizure consisting of starring episodes and atonic seizures manifested by head drops. Her EEG (Figure 5) captured several epileptic negative myoclonus occurring in clusters. She had CSWS and background slowing and disorganization, worse on the right. Keppra was initiated with moderate control, followed by Depakot. Increasing dose of Depakote provided initially moderate seizure control. Later Onfi and Zonisamide were introduced with adequate seizure control. Keppra was tapper off. Her latest brain MRI showed progression of the disease. (Figure 6). Her ophthalmologic exam is negative for glaucoma. Conclusions: We describe a SWS type III case diagnosed on MRI findings. The atypical early presentation (at 5 months of age) in retrospect with stroke-like events placed her at high risk for developmental delay and seizures. Her left homonymous hemianopsia and left hemiparesis present at birth raised the question of antenatal events. Despite progression in her MRI findings she developed normally. Due to lack of consensus in the management and evolution of SWS type I and III we continue to recommend careful neurological and ophthalmologic evaluation in this cases. Frequent imaging is warranted if new symptoms occur. Aggressive seizure control is recommended. Neurosurgical evaluation should be reserve for refractory cases.