Abstracts

Rationale: Sturge-Weber syndrome (SWS) is associated with seizures, facial port-wine stain, and eye involvement. In most cases, seizures start during infancy, although occasionally neurological symptoms may present in adulthood, and have varying degrees of neurological impairment. Cases of death in SWS have not been well-described in previous reports, although there are few case reports of SWS diagnosed only after autopsy. Here we tried to identify factors associated with increased risk for mortality in children with SWS. Methods: We retrospectively reviewed medical records over a 10-year period, of 130 patients followed in the Comprehensive Sturge-Weber Clinic at Boston Children's Hospital. Clinical, radiological and neuropathology findings were reviewed of two deaths that were identified.  Results: Patient A was born with bilateral port-wine stain. She developed prolonged focal seizures with rhythmic twitching of left arm as a neonate, treated with phenobarbital and phenytoin. MRI showed broad leptomeningeal enhancement over the right hemisphere (Fig. 1). Two months later, she developed different seizures with eye rolling upwards and cyanosis. Seizures were not controlled despite adding levetiracetam and lorazepam, and she underwent right functional hemispherectomy at 6 months; however, resection was limited by blood loss. She was seizure free for a few months and had seizure recurrence. Residual connections were identified on MRI with tractography, and she underwent three additional surgeries for completion of functional hemispherectomy. She became seizure free for 1.5 years when she presented with fever to 102.9 F with upper respiratory symptoms, and 3-minute convulsive seizure. Within 12 hours, she became comatose, developed cerebral edema with uncal herniation. She developed multi-organ failure and care was withdrawn. Blood and CSF cultures were positive for Hemophilus influenza, non-type B and autopsy confirmed cause of death as bacterial meningitis with secondary herniation. Neuropathology showed leptomeningeal vascular malformation and extensive cortical calcification consistent with SWS.Patient B was prenatally diagnosed with hypoplastic left heart syndrome (HLHS) and found to have port-wine stain at birth. MRI showed prominent venous vascularity along the cortex of the left hemisphere and right parieto-occipital lobe, consistent with SWS (Fig. 2). At 4 months, he developed left-sided focal seizures treated with phenobarbital, levetiracetam, and phenytoin, later responding to oxcarbazepine. He underwent staged repair of HLHS at 4 months but developed recurrent heart failure. He underwent orthotopic heart transplant at 10 months, however he developed allograft rejection with cardiovascular instability. He was maintained on ECMO support but had no return of electrical or mechanical cardiac activity, and care was withdrawn. Autopsy confirmed cause of death as acute ischemic cardiac process. Brain autopsy showed leptomeningeal angiomatosis in the tissue overlying the left occipital lobe. Conclusions: Natural history and outcome including mortality in children with SWS, have not been previously well-described. In our cohort, both patients died due to non-neurological etiologies (infectious and cardiac), but both children had systemic disabilities and may have been overall susceptible to systemic complications. No death directly related to prolonged seizures or SUDEP was seen in this cohort. Further studies will be necessary to identify the risk factors for mortality in children with SWS. Funding: No funding