Authors :
Presenting Author: Anjili Vara, MD, MS – Stanford Health Care
Laura Owlett, MD, PhD – University of Rochester Medicine
Bo Lee, MD – University of Rochester Medicine
Rationale:
Vein of Galen Malformation (VoGM) is a very rare congenital vascular malformation. VoGM is often diagnosed in utero via prenatal ultrasounds, however patients can manifest clinical symptoms at various ages depending on underlying pathophysiology, with neonatal presentations having high mortality rates due to severe cardiopulmonary manifestations. Although seizures have been reported with VoGM, literature suggests the mechanisms are related to the secondary effects, such as local microhemorrhages, compression of CSF flow, venous hypertension, and hydrocephalus. This case describes a 3-month-old with VoGM presenting with infantile onset of focal seizures.
Methods: Case report.
Results:
A full-term, typically developing infant girl, presented at 3 months of age with concern for seizures. Her prenatal anatomical ultrasound had demonstrated a unilateral choroidal cyst at 20-weeks (without further work up) but her prenatal and neonatal course were otherwise uncomplicated. The semiology of her events was described as left head turn, left arm movement, and oxygen desaturations lasting 1-2 minutes. Events were confirmed to have EEG correlate suggesting right frontotemporal seizure onset and background activity suggesting dysfunction of the right hemisphere. Initial neuroimaging revealed a prominent vein of Galen malformation, seen in the left thalamus and posterior limb of the left internal capsule, with left greater than right arterial feeders from posterior cerebral arteries (PCAs), right greater than left venous congestion. Additionally, right orbital vascular malformations were notable, but there was no evidence of hemorrhage or structural changes in the hypothesized region of seizure onset. She was started on levetiracetam (40mg/kg/day) with good effect and resolution of clinical seizures. An angiogram was performed at 5 months of age and demonstrated choroidal type VoGM. She has had two embolization procedures without complications. A screening echocardiogram at the time of her presentation showed normal cardiac function, with patent foramen ovale and possible small aortopulmonary collateral. Her physical exam was notable for numerous semi-blanchable bright red macular skin lesions, primarily on legs, back and left ear. No neurological deficits were noted on exam. Genetic panel testing to date has been negative (hereditary hemorrhagic telangiectasia and vascular malformation panel). Further testing is pending, but due to unclear etiology at this time, prognosis of epilepsy remains unclear.
Conclusions:
This case highlights a rarely described presentation of focal epilepsy in an infant with choroidal type VoGM. Although the additional orbital and dermatological findings suggest an underlying genetic etiology, this may not provide insight into her focal epilepsy. If her seizures resolve after surgical interventions, this may suggest that her focal epilepsy was secondary to secondary effects of her VoGM.Funding: n/a