Sturge Weber syndrome in an old epileptic patient: typical CT and MRI findings

Clinical History

64-year-old female patient hospitalised for headache and focal seizures from her infancy period. Physical examination showed a large left facial angioma, arterial hypertension (160/100 mmHg) and right hemiparesis.

Imaging Findings

A lateral scout view (Fig.1), unenhanced brain CT (Fig.2a) with bone window analysis (Fig.2b) and unenhanced (T2, T1, Flair, T2 GRE, weighted sequences) and enhanced T1 MRI after Gadolinium iv. injection of the brain were performed (Fig.3 a-f). The lateral scout view revealed the presence of tram-track calcifications located in the frontal region, confirmed on the nonenhanced CT (NECT) in association with a focal cortical atrophy of the left frontal lobe. MR findings were represented in T1 weighted images by atrophy of white matter and gray matter (Fig.3b); T2 (Fig.3a) and T2 Flair (Fig.3c) weighted images were very useful to asses atrophy, gliosis, hypointensities in regions of calcifications; T2* GRE was very sensible to detect tram-track gyral calcifications (Fig.3d). MRI with Gadolinium contrast injection was necessary to assess the extent of brain lesions: serpentine leptomeningeal enhancement, pial angiomatosis of subarachnoid space; atrophy; engorged, enhancing of the left choroid plexus (Fig.3e, f).

Discussion

Sturge Weber syndrome (SWS) or Sturge Weber Dimitri or encephalotrigeminal angiomatosis (Fig.4) is a rare (incidence 1:50000) and usually a sporadic congenital malformation in which fetal cortical veins fail to develop normally, which produces stasis and occlusion and secondary an anoxic cortex and chronic venous ischaemia [1-4]. Very rarely SWS is familial, but occasionally may be associated with other vascular phakomatosis [2].
Most common signs and symptoms are represented by facial nevus flammeus ("port-wine stain"), choroidal angioma 70%, congenital glaucoma, retinal telangiectatic vessels; scleral angioma; iris heterochromia; seizures are present in 90% of cases; hemiparesis in 30-66% of cases; stroke-like episodes; neurological deficit may be present in 65% of cases; migraines [1-4].
Imaging findings are represented by cortical calcifications, atrophy, and enlarged ipsilateral choroid plexus; pial angiomatosis unilateral in 80% of cases or bilateral in 20% of cases, involving the occipital> parietal> frontal temporal lobes >diencephalon/midbrain> cerebellum regions [5-7]. Skull radiography or scout CT view shows: tram-track giriform calcifications.
NECT findings are represented by: gyral subcortical white matter (WM) Ca++; atrophy; hyperpneumatisation of paranasal sinuses; thick diploe; contrast enhanced CT (CECT) anomalies are serpentine leptomeningeal enhancement; ipsilateral choroid plexus enlargement [5, 6].
Nonenhanced and enhanced MRI with Gd contrast iv. injection are necessary to assess the extent of brain lesions (uni-/bilaterality). MR can demonstrate the structural abnormalities of the brain, which include pial angioma on postcontrast enhanced images, cortical calcifications subjacent to the cortex and white matter region, which are depicted as signal voids or hypointense curvilinear structures, enlarged choroid plexus, especially on postcontrast enhanced images, atrophy of the ipsilateral cerebral hemisphere -angioma side [5, 6]. FLAIR weighted images after Gd contrast iv. injection improves conspicuity of leptomeningeal angiomatosis [6, 7]. Functional cerebral perfusion and MR spectroscopy provide an independent functional assessment of patients with SWS. A decreased N-acetylaspartate level may be expected in the region of more severe hypoperfusion or after a longer disease duration or as the result of prolonged seizure activity [7-9].
SWS treatment consists in specific medical treatment of seizures; resection of affected lobes may be required and for skin lesions- laser skin procedures [10].
In summary, seizures associated with facial manifestation (nevus flammeus), central nervous system manifestations (leptomeningeal venous angioma confined to pia mater, cortical hemiatrophy beneath meningeal angioma, gyriform cortical calcifications, gliosis, choroid plexus enlargement ipsilateral to angiomatosis) confirmed by CT and/or MRI findings are the specific criteria used to diagnose the Sturge Weber syndrome.

Differential Diagnosis List

Final Diagnosis

Sturge Weber syndrome (SWS) or encephalotrigeminal angiomatosis

URL:	https://eurorad.org/case/11033
DOI:	10.1594/EURORAD/CASE.11033
ISSN:	1563-4086