engleski

Sturge-Weber Syndrome with Intracerebral Hemorrhage

Objective: Sturge-Weber syndrome with an incidence of approximately 1/5000 is thought to result from embryonal vascular plexus maldevelopment, forming capillary-venous angiomas in V1 and V2 regions of trigeminal innervation. Main clinical features are therefore facial nevus flammeus, glaucoma and leptomeningeal angiomatosis in most cases affecting parietal/occipital lobe with highly variable clinical course most frequently depicted by seizures, strokelike episodes and mental retardation later on. Key diagnostic work-out regarding intracranial involvement are CT, detecting calcifications ; and MRI/MRA, commonly showing cerebral atrophy, lack of superficial cortical veins with nonfilling of venous sinuses, thickened deep medullary veins, white matter ischemic/gliotic areas and gyral enhancement after Gadolinium injection, all of which may be absent during infancy . Case report and methods: A boy presented to us after birth with left hemifacial nevus flammeus and normal brain CT scan. At 4 months of age he experienced massive left-sided frontal intraparenchymal hemorrhage with mass-effect determined by US and CT, treated non-operatively. Three weeks later, hemorrhaging relapsed at the exact same location with ventricular propagation, resulting in comatose state requiring mechanical ventilation and ventricular drainage. We present MRI/MRA and DSA obtained after his recovery. Results: MRI showed hypointense area in the left frontal lobe with enlarged frontal horn, indicating resolved intracerebral hematoma with retractive changes and septation, calvaria thickening above corresponding cortex and thin corpus callosum. MRA with gadolinium enhancement and DSA showed appropriate vascular morphology and bloodflow dynamics, without evident AV malformation. The patient presented with infantile spasms and hypsarrhythmia changig to focal interictal pattern during the course, without complete seizure control by antiepileptics , what makes him a potential candidate for epilepsy surgery. No signs of ocular involvement were observed. Conclusion: This case demonstrates an unusual course of Sturge-Weber syndrome with severe hemorrhage possibly caused by latent angioma, requiring further definement of appropriate age for MR screening.

Sturge-Weber Syndrome; Intracerebral Hemorrhage; neuroimaging

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