Clinical and neurophysiological changes in patients with pineal region expansions [Kliničke i neurofiziološke značajke u bolesnika s ekspanzivnim tvorbama pinealne regije]

In the last 20 years neurological and neurosurgical follow up of our patients with pineal region expansions (118 patients) pointed to certain clinical and neurophysiological regularities. We performed retrospective study which included 84 patients with pineal region expansions in the period from 1992 to 2009. The study included 55 women and 29 men, mean age 30.08 +/- 13.93 years, with positive brain magnetic resonance imaging (MRI)--70 patients (83.4%) had simple pineal gland cysts, and 14 patients (16.67%) had expansive process in pineal region with compressive effect. All patients had headache, while 32 patients (38%) had epileptic phenomena--primary generalized seizures. Patients had common electroencephalography (EEG) pattern with paroxysmal discharges of 3Hz (or more than 3 Hz) spike-and-wave complexes. Operation with supracerebellar infratentorial approach was performed in 70 patients. In most of our patients indication for the operation was established based on the size of the cyst (15 mm or more), with the signs of compression on the quadrigeminal plate and compression of the surrounding veins, which could result in seizures and EEG changes verified in our group of patients. Pathohistological analysis revealed pineocytomas in 11 cases (15.71%), pinealoblastomas in 2 cases (2.86%), one case of teratoma (1.43%), while 56 patients had pineal gland cysts (80%). Following surgery clinical condition improved in all patients--patients became seizure-free and headaches significantly decreased. Other symptoms including diplopiae, nausea, vomiting, vertigo as well as blurred vision also disappeared. There were no complications after surgical procedures. This study points to often appearance of seizures that clinically and neurophysiologically present as primary generalized epilepsy in patients with pineal region expansions. Our hypotheses are that mass effect on the surrounding veins that affects normal perfusion, compressive effect on the quadrigeminal plate and the aqueduct of the midbrain, hemosiderin deposists, as well as secretion disturbances of anticonvulsive agent melatonin can be involved in the pathogenesis of seizures. We suggest to perform high resolution brain MRI with special demonstration of pineal region in all young patients that have seizures and specific EEG changes

The effect of delayed anti-NMDAR encephalitis recognition on disease outcome

Anti-NMDA receptor encephalitis is an acute form of brain inflammation that is potentially lethal but has a high probability for recovery with treatment. Although the clinical picture of anti-NMDAR encephalitis is usually recognizable due to its relatively well-known symptoms, the disorder can sometimes present itself in an unpredictable and atypical way. In this case report, we wish to present the influence of different delay times prior to the establishment of diagnosis. Thus, our first patient was diagnosed with anti-NMDAR encephalitis 4 years after the initial symptoms, the second one after 8 years, and the third one after 13 months. The outcomes of the three presented patients indicate the importance of being aware of many clinical presentations of this disorder, as its early diagnosis greatly affects the outcome and may reduce permanent damage, especially in cognitive functions

Seizure freedom with vagus nerve stimulation in neurofibromatosis type 1: A case report

Epileptic seizures in neurofibromatosis type 1 (NF1) have been a subject of investigation of numerous studies, however, their etiology has not yet been elucidated. They are usually well controlled with an- tiseizure medications (ASMs), but in some pharmacoresistant patients, vagus nerve stimulation (VNS) might present a complementary treatment modality. We present a 24-year-old male patient with NF1 who had temporal lobe seizures - focal autonomic seizures with impaired awareness and oroalimentary automatisms, as well as focal motor seizures with retained awareness, in addition to moderate intel- lectual disability. The most significant magnetic resonance (MRI) abnormalities included infiltrative changes of medulla oblongata, pons and cerebellum, as well as signal intensity changes with mild com- pression in the apex of the temporal lobes, insular cortex, putamen and medial part of the frontal lobe, all more prominent on the right, along with right mesial temporal sclerosis. Interictal electroencepha- logram (EEG) showed two independent epileptic foci – one in the right frontocentrotemporal region and the other in the left centrotemporal region. Throughout the years, he had been treated with several ASMs in monotherapy or polytherapy without success in seizure control. After an extensive preoperative evaluation, VNS implantation was performed and the patient has been seizure free for almost two years. Al- though a palliative intervention, VNS could be a powerful tool in the treatment of these patients and even lead to seizure freedom. To the best of our knowledge, this is the first case report where seizure freedom was achieved in a patient with NF1 following VNS implantation

DEPRESSION AND QUALITY OF LIFE IN PATIENTS WITH EPILEPSY - SINGLE CENTRE EXPERIENCE

Background: Patients with epilepsy commonly report depressive symptoms. The main aim of this study was to evaluate the relationship between epilepsy, antiepileptic drugs (AEDs) and depression. We also wanted to evaluate possible association between depressive symptofigms in patients with epilepsy with the quality of life (QoL). Material and methods: This was a prospective cross-sectional study carried out at the tertiary teaching hospital (University Hospital Centre Zagreb, Croatia) with Ethics committee approval. Questionnaires evaluating depressive symptoms and QoL were administered to consecutive patients treated in the Referral Centre of the Ministry of Health of the Republic of Croatia for Epilepsy. Depressive symptoms were evaluated using Hamilton Rating Scale for Depression (HAM-D17). Quality of life was assessed using Quality of life in epilepsy-31 inventory (QOLIE-31) Results: 108 patients (63% women, 37% men; mean age 39.54±15.91 years, range 18-80 years) with epilepsy were included. 14.8% of patients had focal, 35.2% generalised and 40.7% both types of epilepsy. Majority of patients (65.74%) were on two and more AEDs and quarter was on monotherapy (25%); 42% were on newer, 19% on older and 39% on both AEDs. Mean total score on HAM-D17 was 9.94±8.18 (men - mean total score 10.16±8.85, women - mean total score 9.81±7.84). There were no significant differences on HAM- newer AEDs, or both types AEDs) and results on HAM-D17, nor between the type of epilepsy and results on HAM-D17. We found strong negative correlation between the higher QoL and HAM-D17 (p=0.000). Conclusions: Results of this study evaluating depressive symptoms in patients with epilepsy demonstrate that our patients mainly experience mild depressive symptoms, with no significant differences on HAM-D17 regarding gender and age. Patients with epilepsy with less pronounced depressive symptoms were found to have higher QoL. We did not find statistically significant differences regarding the type of epilepsy and results on HAM-D17, nor between the AEDs (older vs. newer AEDs, or both types AEDs) and results on HAM-D17

Kvaliteta života bolesnika s epilepsijom - naša iskustva

A prospective study was carried out at the Zagreb University Hospital Centre to evaluate the relationship between epilepsy, antiepileptic drugs (AEDs) and quality of life (QoL) in patients with epilepsy (PE), and its association with depressive symptoms and sexual dysfunction (SD). QoL was assessed by use of the Quality of Life in Epilepsy-31 Inventory (QOLIE-31), SD by the Arizona Sexual Experiences Scale (ASEX), and depressive symptoms by the Hamilton Rating Scale for Depression (HAM-D17). The study included 108 PE (women 63% and men 37% men), mean age 39.54±15.91 years. Focal type epilepsy was diagnosed in 14.8%, generalized type in 35.2%, and both types were present in 40.7% of study patients. Drug-resistant epilepsy (DRE) was present in 44/108 and vagus nerve stimulation (VNS) was implanted in 27/44 patients. The mean response on QOLIE-31 was 62.88±17.21 with no significant differences according to gender, type of epilepsy, and age. A statistically significantly lower QoL was found in the ‘Overall QoL’ domain (35-55 vs. <35 age group). Patients taking both types of AEDs had a significantly lower QoL compared to those on newer types of AEDs. Higher QoL was associated with less pronounced depressive symptoms (p=0.000). Significant correlations were found between lower QoL and SD (p=0.001). In 27 patients with DRE having undergone VNS, a favorable effect of VNS implantation on the QoL and mood was observed as compared with 18 patients without VNS (p=0.041).Provedeno je prospektivno istraživanje u KBC-u Zagreb s ciljem procjene povezanosti epilepsije, antiepileptičkih lijekova (antiepileptic drug, AED) i kvalitete života (quality of life, QoL) u bolesnika s epilepsijom, kao i učestalosti depresije i seksualne disfunkcije (SD). QOLIE-31 (Quality of Life in Epilepsy-31 Inventory) je primijenjen za procjenu QoL-a, ASEX (Arizona Sexual Experiences Scale) za SD i HAM-D17 (Hamilton Rating Scale) za depresiju. Uključeno je 108 bolesnika s epilepsijom (63% žena, 37% muškaraca; srednja dob 39,54±15,91 godina). Žarišnu epilepsiju imalo je 14,8% i generaliziranu 35,2% bolesnika, dok je obje vrste epilepsije imalo 40,7% bolesnika. Farmakorezistentnu epilepsiju (drug-resistant epilepsy, DRE) imalo je 44/108 bolesnika, a kod njih 27/44 ugrađen je stimulator vagusnog živca (vagus nerve stimulation, VNS). Srednji odgovor na QOLIE-31 bio je 62,88±7,21 bez značajnih razlika u odnosu na spol, vrstu epilepsije i dob. Statistički značajno niži QoL nađen je u domeni ‘Sveukupni QoL’ (dobna skupina 35-55 godina u odnosu na dobnu skupinu <35). Bolesnici koji su uzimali obje vrste AED imali su značajno niži QoL u usporedbi s onima na novijim AED. Viši QoL bio je povezan s manje izraženim simptomima depresije (p=0,000). Pronađene su značajne korelacije između nižeg QoL-a i SD (p=0,001). U bolesnika s DRE utvrđen je pozitivan utjecaj ugradnje VNS-a na QoL i raspoloženje (27 bolesnika s VNS-om u usporedbi s 18 bolesnika bez VNS-a, p=0,041)