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Objective: Phenylketonuria (PKU) is one of the most common metabolic disorders worldwide. If left untreated, it causes neuropsychiatric sequelae, with seizures being a common occurrence. There is little information about the clinical features of epilepsy, electroencephalography (EEG) findings, and factors related to seizure outcomes in adult patients. We aimed to investigate these variables in adult PKU patients. Methods: We conducted a retrospective search in our database using the keywords “PKU and epilepsy” for the period between 2008 and 2022. Demographic, clinical, EEG, and cranial magnetic resonance imaging (MRI) findings of the patients were extracted from the electronic health records. Scalp EEG and MRI findings were reassessed. Phenylalanine (Phe) levels of the cases were retrieved. The potential correlation between seizure outcome and laboratory findings was analyzed. Results: Ten patients (4 females; aged: 19–55 years) were included. Seizure onset was various. The most common seizure type was bilateral tonic-clonic. Nine patients were on antiseizure medications (ASMs); seven were seizure-free. EEG background activity was slow in four patients, with paroxysmal discharges in eight individuals. The most frequent MRI finding was periventricular white matter hyperintensity. No correlation existed between seizure outcome and clinical, EEG, MRI results, or Phe levels. Seizure freedom was more common in patients with good dietary compliance. Conclusion: Bilateral tonic–clonic seizures were the most common type of seizure, accompanied by frequent paroxysmal activity in EEG. MRI scans revealed periventricular white matter hyperintensity. Seizure freedom was commonly achieved with ASMs, irrespective of blood Phe levels. Nevertheless, dietary compliance may play a role in seizure control.

L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive metabolic disorder that causes central nervous system dysfunction. We present the case of a 33-year-old woman with macrocephaly, developmental delay, cerebellar ataxia, pyramidal signs, and seizures. Despite typical clinical features and suggestive magnetic resonance imaging findings, the diagnosis was not made. Genetic analysis revealed a homozygous missense mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Treatment with riboflavin and L-carnitine was initiated. L2HGA should be considered in the differential diagnosis, even in adults, when suggestive imaging findings are present. Early diagnosis is crucial for better outcomes.

Objective: Status epilepticus (SE) is one of the severe neurological emergencies with significant morbidity and mortality. Most of the time these patients require admission to intensive care units. There is little information about health-economy related burden of SE and potential factors affecting cost except for developed Western countries, especially from the perspective of non-convulsive SE (NCSE). Materials and Methods: We included all consecutive patients diagnosed as having NCSE with continuous electroencephalogram (EEG) in our neurological intensive care unit (NICU) between 2009 and 2019. Demographic and clinical features were collected from patient files. Total cost during NICU care was obtained from hospital financial records. The results were compared with other NICU patients (control group) followed during the same period for the same length of stay. We also investigated the potential impact of several parameters on cost. Results: Thirty two patients with NCSE and 32 controls were included. Mean cost per patient was 11,831 US dollars (USD) in the study and 11,240 USD in the control group (p=0.386). Increased length of stay (p

BackgroundMigraine without aura (MwoA) is a very frequent and remarkable comorbidity in patients with idiopathic/genetic epilepsy (I/GE). Frequently in clinical practice, diagnosis of MwoA may be challenging despite the guidance of current diagnostic criteria of the International Classification of Headache Disorders 3 (ICHD-3). In this study, we aimed to disclose the diagnostic gaps in the diagnosis of comorbid MwoA, using a zone concept, in patients with I/GEs with headaches who were diagnosed by an experienced headache expert.MethodsIn this multicenter study including 809 consecutive patients with a diagnosis of I/GE with or without headache, 163 patients who were diagnosed by an experienced headache expert as having a comorbid MwoA were reevaluated. Eligible patients were divided into three subgroups, namely, full diagnosis, zone I, and zone II according to their status of fulfilling the ICHD-3 criteria. A Classification and Regression Tree (CART) analysis was performed to bring out the meaningful predictors when evaluating patients with I/GEs for MwoA comorbidity, using the variables that were significant in the univariate analysis.ResultsLonger headache duration (

Leptomeningeal carcinomatosis (LMC) is a relatively rare complication of advanced-stage cancer. The diagnosis of LMC is based on clinical and radiologic findings and cytologic examinations. The diagnosis may be difficult because the clinical findings may be subtle initially, and the specificity of the diagnostic modalities is low. A 41-year-old male patient with metastatic lung adenocarcinoma presented with headache, confusion, and treatment-resistant seizures. There was no intraparenchymal mass lesion or leptomeningeal contrast enhancement in brain magnetic resonance imaging. The presence of LMC was demonstrated in a cytopathologic examination of cerebrospinal fluid. The seizures were controlled with antiepileptic treatment, but the patient was referred to the palliative care center due to poor oncologic prognosis.

Objectives:The aim of this study was to collect data through the Epilepsy Surgery Commission of the Turkish Epilepsy Society to obtain a comprehensive assessment of the status of epilepsy patients in Turkey, to identify the existing infrastructure-service potential of video-electroencephalogram (EEG) monitoring (VEM) centers and epilepsy surgery, to initiate standardization activities, to create awareness of the data, and to ensure that the necessary precautions are taken by the health authorities.Methods:Two separate data collection forms were prepared, including VEM and surgical details. The forms were sent to all university hospitals, training and research hospitals, and adult neurology specialists in private centers, via e-mail, through the Turkish Epilepsy Society. This was a volunteer-based questionnaire, and centers were included in the study based on e-mail feedback. Data collected from June to November 2015 were included in the study.Results:The study included 32 VEM centers (28 centers still active ) and 14 epilepsy surgery centers (12 centers still active ). In total, 20,000 patients in our country participated in VEM during the study period. Of those, 1833 patients underwent resective surgery (1606 scalp examinations, 227 invasive examinations), and 321 patients had vagal nerve stimulation treatment.Conclusion:This study, which reveals the reality in our country, demonstrates that, optimistically, only 5% of the target audience for epilepsy surgery is reached. Raising awareness is necessary to identify patients with resistant epilepsy, and to promote referral to suitable centers and access to treatment, appropriate health care policies, and support for the necessary tools and working conditions at epilepsy centers.

Anti-LGI1 auto-antibody related limbic encephalitis is characterized by memory deficits, various neuro-psychiatric symptoms, behavioral disorders and temporal lobe seizures that point to involvement of the limbic system. Neuro-imaging studies reveal abnormal signal intensity in the mesial temporal structures and/or basal ganglia. Seizures are frequently resistant to antiepileptic medications. However they can be dramatically controlled by immunological treatment modalities. A 29-year-old male patient was admitted to our medical center due to long lasting frequent seizures that could not be controlled with four different antiepileptic drugs. However soon after the diagnosis of anti-LGI1 related autoimmune limbic encephalitis, he received IV pulse steroid treatment that lead to complete and rapid cessation of his seizures. Based on this case report, the presenting features, diagnosis and treatment of anti-LGI1 related autoimmune limbic encephalitis are once more stressed.

Downbeat nystagmus is associated primarily with structural lesions of the central nervous system and may be observed as a manifestation of drug intoxication. Herein we present an epileptic patient that presented with downbeat nystagmus related to oxcarbazepine intoxication and completely recovered following dose reduction. To the best of our knowledge this is the first report of downbeat nystagmus related to oxcarbazepine intoxication. Moreover, clinicians should be aware that downbeat nystagmus could be a manifestation of antiepileptic drug intoxication