Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

Findings

Figure 1 and 2: Enlargement of left frontal sinus; generalized left hemishperic cerebral atrophy with significant white matter involvement; enlargement of ipsilateral choroid plexus of this noncontrast enhanced study; low intensity gyral signal corresponding to gyral calcifications. If CT had been performed in this case, classic "tram-track" calcifications would be seen.
Figure 3: Hyperintense signal within remaining white matter on FLAIR consistent with gliosis.
Figure 4 and Figure 5: Hyperpneumatization of left frontal sinus (Figure 4); generalized left cerebral hemispheric atrophy; skull thickening (Figure 4); enlargement of ipsilateral choroid plexus.


Diagnosis: Sturge-Weber syndrome(encephalotrigeminal angiomatosis)


Sturge Weber syndrome (encephalotrigeminal angiomatosis) is a rare neurocutaneous syndrome in which patient has port wine nevus in V1 (ophthalmic branch) distribution of trigeminal nerve, seizures and occasionally hemiplegia. It is a predominantly sporadic disease. The basic pathophysiology is likely due to faulty development of cortical venous drainage resulting in leptomeningeal angioma formation, venous stasis, vascular congestion, and hypoxia of the affected cortex. Slowly progressive atrophy of the brain underlying the angioma occurs, along with the characteristic cortical calcifications.
On imaging, the classic findings include hemiatrophy with gliosis, ipsilateral choroid plexus hypertrophy due to collateral deep venous flow, and leptomeningeal enhancement (early) or “tram-track” cortical calcifications (late). Enlargement of deep medullary white matter veins can be seen on enhanced MR images and MR venography may show a paucity of cortical veins.
Although the cortical calcifications are best seen on CT imaging, they may also be identified as low-signal intensity cortical signal along cortical gyri. Cortical calcifications are usually progressive, posterior to anterior.
In addition, imaging findings include Dyke-Davidoff-Masson syndrome, characterized by elevated petrous ridge/sphenoid wing, and hemihypertrophy of the skull. There is also hyperpneumatization of the ipsilateral paranasal sinuses, usually frontal sinuses.
Treatment includes longstanding seizure therapy. If seizures are not controlled by medication, surgical resection of the affected lobe may be performed.