Classic type Sturge-Weber syndrome with secondary glaucoma and combined generalized and focal epilepsy: a case report

Introduction: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that could lead to intractable epilepsy and poor long-term outcomes. Neurological changes in SWS could lead to focal to generalized onset seizures and neurodevelopmental disorders. We present a classic case of SWS in a child presenting with epilepsy and secondary glaucoma. Case description: A 19-month-old boy was admitted with a history of recurrent seizure episodes. The seizure first manifested at 6 months of age, presenting as focal tonic seizures. These episodes recurred when the child was one year of age. Three months following admission, he experienced another seizure, which progressed to a generalized tonic seizure. Physical examination revealed bilateral port-wine stains, extending from the right forehead to the cheek, and also on the left cheek. Ophthalmologic examination showed increased intraocular pressure and hyperemic conjunctiva without secretions in the right eye, indicating secondary glaucoma. The brain MRI revealed focal cortical dysplasia of the right temporal and parieto-occipital lobes with leptomeningeal enhancement in the parieto-occipital region. Electroencephalography showed intermittent slow activity at left frontotemporoparietal and right parietal lobes with mild background slowing. Thus, the patient was diagnosed with classic type Sturge-Weber syndrome with combined generalized and focal epilepsy with motor-onset tonic type and delayed speech comorbidity with secondary glaucoma. The patient was treated with carbamazepine as the primary anti-epileptic drug. Carbamazepine was initially started on 15 mg/kg/day and the dose was gradually increased to 30 mg/kg/day to which led to seizure control. Conclusion: Sturge-Weber syndrome is associated with a higher risk of intractable epilepsy. Early age of seizure onset, bilateral brain involvement, and extensive unilateral hemispheric disease in this case were associated with increased risk of intractable epilepsy and multiple AED use.