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Objective:To investigate the clinical and electroencephalographic characteristics of photosensitive occipital lobe epilepsy (POLE) in children.Methods:The clinical data, electroencephalogram (EEG), treatment and prognosis of 22 children with POLE in the Department of Pediatrics, Peking University First Hospital from January 2006 to December 2019 were retrospectively analyzed.Results:Among the 22 patients, 12 cases were female and 10 cases were male.There were 3 cases combined with mild mental retardation.Classified by seizure symptoms, only 3 patients complained of subjective symptoms of visual aura, and the common symptoms were eye movement in 11 patients, headache in 3 patients, vomiting in 6 patients and dizziness in 3 patients.All patients had focal seizures during the course of disease.Twenty patients had secondary bilateral tonic-clonic seizures, and 5 patients also had generalized myoclonic seizures.Interictal epileptiform discharges were monitored in EEG of all children, including pure focal discharges in 6 patients, pure generalized discharges in 10 patients, and coexistence of generalized and focal discharges in 6 patients.Photoparoxysmal responses were induced in 19 patients, including pure focal discharges in 4 patients, pure generalized discharges in 6 patients, and coexisting focal and generalized discharges in 9 patients.Photoconvulsive responses were induced in 16 patients, including focal seizures with occipital lobe onset or focal secondary to bilateral tonic-clonic seizures in 15 patients, and myoclonic seizures in 1 patient.Eighteen patients were treated with anti-seizure medications (ASMs) and followed up.The top 3 commonly used drugs were Valproic acid (12 patients), Levetiracetam (8 patients), and Lamotrigine (4 patients), and 13 cases had controlled seizures.Conclusions:The visual aura of POLE is not obvious, and the relationship between epilepticseizures and light stimuli in daily life should be actively inquired to avoid misdiagnosis or underdiagnosis of the syndrome.The EEG of POLE often visualizes the coexistence of focal and generalized discharges, which may be accompanied by generalized seizures.The coexistence phenomenon should be considered when ASMs are medicated during treatment, and odium channel blockers should be selected carefully.
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Objective:To study the case of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) which mimic migraine attacks with visual aura, to analyze the clinical features, and to recognize the nature of headache.Methods:The clinical features, image data and video electroencephalogram (EEG) of a suspected patient with MELAS were analyzed. Genomic DNA of mitochondria was extracted from blood and the next generation sequencing was performed to explore the mutation of genes about MELAS.Results:The patient was adolescent-onset, and presented with migraine-like attacks with visual aura, epileptic seizures, stroke-like episodes and hyperlactemia. Brain images suggested basal ganglia calcification, reversible left occipital cortex infarction and abnormal lactic acid peaks in both occipital cortex. Video EEG suggested abnormal adolescent EEG. Mitochondrial DNA sequencing showed that MT-TL1 gene had m. 3243A>G pathogenic mutation.Conclusions:There are a variety of clinical manifestations in MELAS, and migraine-like attacks with visual aura as initial symptoms may be manifestations of occipital lobe epilepsy. Clinicians should avoid confusing the diagnosis of migraine with visual aura, occipital epilepsy and MELAS, in order to make rational clinical decisions.