Abstracts

Rationale: Cutaneous capillary malformations (CM) and combined vascular anomalies are seen in Sturge Weber, Klippel-Trenaunay and Parkes Weber Syndromes. A genetic association with mutations of the RASA1 gene (p120-RasGAP) which signals angiogenesis has recently been described in patients with various CM-AVM phenotypes. We describe the successful surgical treatment of a 3 year old with cutaneous and intracerebral CM-AVM due to RASA1 mutation who presented with stroke like seizure events. Methods: A 3 year old boy presented to the epilepsy clinic at Rainbow Babies and Children s Hospital, Cleveland, Ohio with 3 episodes of jerking of right arm with loss of consciousness lasting 1-1.5 minutes and 2-3 episodes of inability to move right side of the body with intact awareness. Examination revealed large left facial capillary malformation with additional smaller round lesions on the left side of the neck. Right sided hemiparesis was detected on examination. Head circumference was above the 95th percentile. Video EEG showed frequent spikes and seizures arising from the left hemisphere characterized by clonic movements of the right arm with loss of consciousness. MRI of the brain showed hypoplastic and malformed left parietal lobe with polymicrogyria and gliosis with a highly abnormal vascular anatomy due to an arteriovenous malformation. Subsequent angiograms confirmed the presence of extensive left parietal pial AV fistula. Focal clonic seizures responded to treatment with levetiracetam but the stroke like paretic events persisted. Biopsy of the facial lesion showed capillary malformations. Genetic testing was positive for RASA1 gene mutation. Results: This patient underwent left craniotomy with resection of a dural arteriovenous fistula and arteriovenous malformation. No filling of the AV fistula was seen on postoperative angiogram. Episodic right sided paresis resolved after surgery, and no further seizures were reported.Conclusions: Capillary malformation-arteriovenous malformation (CM-AVM) may be seen in a number of well described syndromes. A recent link to RASA1 mutation as was present in our patient has been found. In Sturge Weber Syndrome patients, focal motor seizures and stroke like events of hemiparesis may result from repeated ischemia from vascular shunting, venous hypertension and thrombosis in abnormal leptomeningeal vasculature. These findings are similar to those seen in our patient. Although our case had a typical facial port wine stain, the intracerebral vascular anomaly was more complex and not confined to leptomengial angiomatosis. Cortical malformation in the region of the AVM and fistula in our patient was possibly secondary to early ischemia. The clonic seizures responded well to medical management with levetiracetam while the strokelike events only resolved after resection of the dural fistula. We postulate that the TIAs were due to vascular shunting through the dural fistula. This case supports the vascular seizure and epilepsy model in Sturge Weber Syndrome and may have implications for innovative therapies.