When Sturge-Weber syndrome and perinatal asphyxia collide: management of intractable seizures in a neonate

Abstract

This report presents a rare and complex case of a neonate with concurrent Sturge-Weber syndrome (SWS) and hypoxic-ischemic encephalopathy (HIE), highlighting the challenges inherent in early diagnosis and effective management. A 37-week male neonate presented with intractable focal-to-bilateral tonic-clonic seizures within six hours of birth. The case was complicated by Grade 2 HIE and a facial port-wine stain in the V1 distribution. Initial anticonvulsant therapy with diazepam and phenytoin proved ineffective, necessitating escalation to quadruple therapy including levetiracetam, midazolam, and phenobarbital. Therapeutic hypothermia was initiated within the critical six-hour window. Diagnostic imaging confirmed cortical parenchymal thickening in the left parieto-occipital region, and ophthalmological examination revealed a choroidal hemangioma, despite the severity of the dual pathology, seizure-free status was achieved after 17 days of intensive management, with sustained response at the initial follow-up. This case addresses a critical gap in the current clinical knowledge by demonstrating the successful implementation of an aggressive multi-modal treatment approach in managing concurrent SWS and HIE, a combination rarely reported in the medical literature.