Dados do Trabalho

Título

Sturge-Weber and hippocampal sclerosis: an uncommon manifestation of dual pathology

Apresentação do caso

A 43-year-old female presented with Todd’s paralysis after a bilateral tonic-clonic seizure. Computed tomography (CT) indicated cortical and subcortical calcification with tram-track sign in the left cerebral hemisphere. Magnetic resonance imaging (MRI) revealed dural enhancement, contrast-enhancing left glomus angioma, prominent transmedullary vein, and a temporo-occipital pial angioma in the left cerebral hemisphere. On T2 weighted images there was ipsilateral calvarial thickening, hypointense subcortical white matter, and left hippocampal volumetric reduction as well as hyperintensity, suggesting hippocampal sclerosis (HS). After initial management, the patient was discharged with clobazam and carbamazepine and presented no more seizures during long-term follow-up.

Discussão

Sturge-Weber syndrome (SWS) consists of a rare genetic neurocutaneous disease that presents with port-wine stains, glaucoma, and leptomeningeal angiomatosis. Specifically, cerebral vascular malformations can lead to cortical hypoxia, ischemia, and gliosis which may serve as an epileptogenic substrate. Seizures in SWS patients usually present as focal aware or focal impaired awareness, or even as focal to bilateral tonic-clonic. Regarding neuroimaging, CT findings may consist of reduced parenchymal volume, ventricle enlargement, and tram-track calcifications. MRI is the technique of choice for SWS diagnosis, as it demonstrates leptomeningeal vascular malformation, abnormal venous drainage, enlarged choroid plexus, prominence of subependymal and medullary veins, loss of parenchymal volume, and, in neonates, accelerated myelinization underlying leptomeningeal angioma. In the present case, the patient also presented neuroimaging findings consistent with hippocampal sclerosis (HS). Particularly, there has been debate on whether HS is a cause or consequence of seizure activity. It is known that the hippocampus is particularly vulnerable to several insults, amongst them, seizures. Consequently, it may suffer damage, contributing to HS, which would act as an epileptogenic substrate on its own. For the present case, it would be reasonable to consider that the vascular malformations that are characteristic of SWS could lead to HS.

Comentários finais

We present a case in which it is possible to notice two potentially epileptogenic lesions in an SWS patient, exemplifying the relevance of looking for hippocampal abnormalities in such patients, as it may impact optimal treatment.