Convulsive Episodes Research Articles

ER and doctors’ preparedness to manage status epilepticus: a multi-institutional survey from the Gaza Strip

BackgroundStatus epilepticus (SE) is a top neurological and medical emergency. Adequate staff knowledge and sufficient hospital resources are mandatory for timely management and better outcomes. This study aims to evaluate Palestinian ER doctors’ knowledge and beliefs towards SE and assess the state and availability of hospital resources needed to manage SE appropriately.MethodsThis cross-sectional study surveyed all ER doctors working in the six governmental hospitals in the Gaza Strip during June 2022. A questionnaire assessed the knowledge and beliefs toward SE and the practice of SE knowledge acquisition. Simultaneous field surveys determined the availability of essential medications and resources at each hospital and doctors’ actual awareness about the status of these resources. Linear regression determined predictors of higher knowledge scores.Results137 doctors participated (response rate 81%). Most were males, had graduated within six years of data collection, and 45.3% worked at Shifa Medical Complex. 63.5% of participants recognized the correct operational definition of status epilepticus. 85.4 and 83.9% recognized that it might cause permanent brain damage or death, respectively. Only 10.9% recognized the average mortality rate of a single convulsive SE episode. 44.5% believed that awaiting spontaneous SE resolution is a valid approach to management. Significant defects were noted in the awareness of subclinical SE, including its recognition and prevalence in ciritcally ill patients. Having a higher qualification and graduating from local medical schools predicted higher scores. In field surveys, EEG was unavailable at all hospitals, while CT scans and a neurologist physician were unavailable at two hospitals. IV phenytoin was the only second-line treatment available at all hospitals. IV valproate and levetiracetam were universally unavailable.ConclusionsThe survey revealed significant defects in Palestinian ER doctors’ knowledge and beliefs towards SE. Several hospitals also demonstrated a critical lack of resources to manage this condition appropriately. This should be addressed by the local health authorities to avoid potentially preventable SE-related mortality and morbidity.

Epileptic seizure prediction via multidimensional transformer and recurrent neural network fusion

BackgroundEpilepsy is a prevalent neurological disorder in which seizures cause recurrent episodes of unconsciousness or muscle convulsions, seriously affecting the patient’s work, quality of life, and health and safety. Timely prediction of seizures is critical for patients to take appropriate therapeutic measures. Accurate prediction of seizures remains a challenge due to the complex and variable nature of EEG signals. The study proposes an epileptic seizure model based on a multidimensional Transformer with recurrent neural network(LSTM-GRU) fusion for seizure classification of EEG signals.MethodologyFirstly, a short-time Fourier transform was employed in the extraction of time-frequency features from EEG signals. Second, the extracted time-frequency features are learned using the Multidimensional Transformer model. Then, LSTM and GRU are then used for further learning of the time and frequency characteristics of the EEG signals. Next, the output features of LSTM and GRU are spliced and categorized using the gating mechanism. Subsequently, seizure prediction is conducted.ResultsThe model was tested on two datasets: the Bonn EEG dataset and the CHB-MIT dataset. On the CHB-MIT dataset, the average sensitivity and average specificity of the model were 98.24% and 97.27%, respectively. On the Bonn dataset, the model obtained about 99% and about 98% accuracy on the binary classification task and the tertiary upper classification task, respectively.ConclusionThe findings of the experimental investigation demonstrate that our model is capable of exploiting the temporal and frequency characteristics present within EEG signals.

Adverse Events in Studies of Classic Psychedelics: A Systematic Review and Meta-Analysis.

A clear and comprehensive understanding of risks associated with psychedelic-assisted therapy is necessary as investigators extend its application to new populations and indications. To assess adverse events (AEs) associated with classic psychedelics, particularly serious AEs (SAEs) and nonserious AEs (NSAEs) requiring medical or psychiatric evaluation. The search for potentially eligible studies was conducted in the Scopus, MEDLINE, PsycINFO, and Web of Science databases from inception through February 8, 2024. Two independent reviewers screened articles of classic psychedelics (lysergic acid diethylamide [LSD], psilocybin, dimethyltryptamine [DMT], and 5-methoxy-N,N-dimethyltryptamine [5-MeO-DMT]) involving administration in clinical or research contexts. AE data were extracted and synthesized by 2 reviewers and were used for random-effects meta-analysis of AE frequency and heterogeneity. Risk of bias assessment focused on AE ascertainment (eg, systematic assessment and quality of follow-up). A hybrid approach was used for capture of all reported AEs following high-dose classic psychedelic exposure and confirmatory capture of AEs of special interest, including suicidality, psychotic disorder, manic symptoms, cardiovascular events, and hallucinogen persisting perception disorder. AEs were stratified by timescale and study population type. Forest plots of common AEs were generated, and the proportions of participants affected by SAEs or NSAEs requiring medical intervention were summarized descriptively. A total of 214 unique studies were included, of which 114 (53.3%) reported analyzable AE data for 3504 total participants. SAEs were reported for no healthy participants and for approximately 4% of participants with preexisting neuropsychiatric disorders; among these SAEs were worsening depression, suicidal behavior, psychosis, and convulsive episodes. NSAEs requiring medical intervention (eg, paranoia, headache) were similarly rare. In contemporary research settings, there were no reports of deaths by suicide, persistent psychotic disorders, or hallucinogen persisting perception disorders following administration of high-dose classic psychedelics. However, there was significant heterogeneity in the quality of AE monitoring and reporting. Of 68 analyzed studies published since 2005, only 16 (23.5%) described systematic approaches to AE assessment, and 20 studies (29.4%) reported all AEs, as opposed to only adverse drug reactions. Meta-analyses of prevalence for common AEs (eg, headache, anxiety, nausea, fatigue, and dizziness) yielded comparable results for psilocybin and LSD. In this systematic review and meta-analysis, classic psychedelics were generally well tolerated in clinical or research settings according to the existing literature, although SAEs did occur. These results provide estimates of common AE frequencies and indicate that certain catastrophic events reported in recreational or nonclinical contexts have yet to be reported in contemporary trial participants. Careful, ongoing, and improved pharmacovigilance is required to understand the risk and benefit profiles of these substances and to communicate such risks to prospective study participants and the public.

A follow-up study of blood donors with vasovagal reaction – Three years’ experience

Abstract: AIM: The aim of this study was to find out the incidence of seizure recurrence among blood donors who developed vasovagal reaction (VVR). SETTINGS AND DESIGN: A prospective survey-based study conducted at the department of transfusion medicine of a tertiary care referral hospital in southern India. SUBJECTS AND METHODS: All donors who were diagnosed with VVR and loss of consciousness with or without convulsions during 3½ years study period were telephonically contacted to a maximum of 3 times. Whether they experienced a repeat episode of convulsions during 6-month follow-up period irrespective of blood donation was enquired. RESULTS: Out of 66 donors who were included in the study, 45 (68%) donors could be successfully contacted. One donor out of 45 (2.22%) had developed a repeat episode of seizure 5 months postdonation. However, she also had a previous history of seizures which was not revealed during the medical examination. CONCLUSIONS: Our study shows that the VVR with convulsions during blood donation can trigger a secondary episode if the donor had convulsions in their past before donation. We did not find any donor who developed a new seizure episode without a past history of seizure. However, more studies are needed to confirm the same.

Design and synthesis of dexmedetomidine capped silver nanoparticles: Investigation of its catalytic application for reduction of nitrobenzenes and its effects on anesthetic, anti-inflammatory, antioxidant and analgesic applications

In the present work, the mono-dispersed produced dexmedetomidine capped silver nanoparticles were described. Dexmedetomidine-stabilized silver nanoparticles were prepared from the facile reduction of silver nitrate by NaBH4 as a reducing agent and dexmedetomidine as a stabilizing agent. The successful reduction of Ag+ ions into Ag0 NPs was confirmed by a visual formation of a deep brown color solution and the appearance of λmax nearing 450 nm in the UV–Vis study. The desired Ag NPs/Dexmedetomidine nanocomposite were characterized by various techniques such as UV/Vis, SEM-EDX, TEM and XRD. The abundant amino groups of dexmedetomidine provided the uniform dispersion and nano spherical shape of silver with sizes of 30–40 nm. The Ag NPs/Dexmedetomidine nanocomposite was applied in the catalytic reduction of diverse aromatic nitro functions using sodium borohydride as reducing agent. An excellent yield were achieved within very short reaction time. During the in vivo study, it was noted that the combination of Ag NPs/Dexmedetomidine showed local anesthetic properties in frog and guinea pig models. Additionally, oral administration of Ag NPs/Dexmedetomidine led to a notable decrease in paw edema in mice. The convulsive episodes triggered by acetic acid were markedly decreased in a dose-dependent manner in every group that was administered Ag NPs/Dexmedetomidine treatment. Additionally, the pain-relieving and anti-inflammatory properties of Ag NPs/Dexmedetomidine were assessed at different dosage levels. The data of this research provide evidence for the Ag NPs/Dexmedetomidine potential use as a pain-relieving and anesthetic substances in future investigations and medical trials involving human participants. In the antioxidant assessment, Ag NPs/Dexmedetomidine demonstrated IC50 values of 77 µg/mL against DPPH free radicals.

Case Report: EEG Picture in a Patient with Post-Stroke Epilepsy

Introduction: Epilepsy is a chronic brain disorder that affects people all over the world. Seizures are the most common neurologic symptom in stroke patients. Approximately 10% of all stroke patients have experienced seizures, and post-stroke seizures generally begin several years after the stroke. Case Illustration: A male patient, 55 years old, Balinese, Kinan, came to the emergency room of Prof. Dr. I.G.N.G. Ngoerah General Hospital with complaints of seizures. The first seizure occurred on December 19, 2021, with a pattern of glancing at the left eye then, followed by full-body twitching, which lasted approximately 5 minutes and stopped on its own. The patient said that before the seizure, the patient was well conscious; during the seizure, the patient was unconscious, and after the seizure, the patient regained consciousness as before the seizure. Then, the seizure repeated the next day (December 20, 2021) with the same pattern and duration, but the patient was not taken for treatment. On physical examination, the patient was alert with vital signs and general physical examination within normal limits. Neurologic examination revealed no focal neurologic deficits. Electroencephalography (EEG) examination showed intermittent slow activity in the left and right fronto-centro-occipital areas. Computed tomography scan (CT-Scan) examination of the head without contrast revealed a hypodense image in the right temporo-parietal lobe. The patient then received anti-epileptic drug (OAE) therapy, OAE therapy given Phenytoin 200 mg every 12 hours intra-orally, Folic Acid 1 mg every 24 hours intra-orally, and anti-platelet and anti-hypertension continued. Discussion: Post-stroke seizure (PSS) is an episode of convulsion that occurs either single or multiple after a stroke, which is thought to be due to irreversible or reversible brain damage. At the same time, post-stroke epilepsy is convulsions after a stroke that occur at least two revivals without provocation with a distance between revivals of more than 24 hours. PSS classification is divided into early post-stroke seizure, where seizures occur onset two weeks early post-stroke, and late (delayed) post-stroke seizure if seizures occur onset after two weeks post-stroke. Post-stroke seizures' most common electroencephalography (EEG) waves are generalized slow waves, focal slowing, focal sharp and slow waves, and periodic lateralized epileptiform discharges (PLEDs). However, 5.1% of patients have normal EEG. The administration of anti-convulsants to prevent recurrent seizures is recommended by the European Guidelines of The European Stroke Organization. In comparison, prophylaxis is not recommended for patients with post-stroke. Keywords: Post-stroke Epilepsy, Stroke, Electroencephalography

Surface modified PLGA nanoparticles of gabapentin: Biodistribution and pharmacodynamic investigation via intranasal route

Epilepsy is a chronic condition and is caused by abnormal electrical conduction by nerve cells. It can affect people from different age groups. The prime objective of epilepsy therapeutics is the targeted and sustained release of drugs at the site of action i.e. in the brain. In the present study, PLGA nanoparticles of gabapentin, coated with Polysorbate 80 were prepared with the aim of delivering the drug to the brain through the nasal route. The said nanoparticles were formulated by the method of double emulsion and solvent evaporation. Thereafter, the prepared nanoparticles were characterized for particle size, Zeta potential, and Surface morphology of the nanoparticles was evaluated by SEM &TEM In vitro release in PBS (pH 7.4) and SNF (pH 5.5). In addition, FTIR and DSC techniques were used to confirm the P80 coating around the nanoparticle's surface. In vitro, cell assays like Cytotoxicity studies, and quantitative and qualitative cell uptake studies were studied on Neuro-2a cells. The nasal mucosa of the goat was used to perform histopathological studies to evaluate the toxicity of nanoparticles. A biodistribution study was performed on Swiss albino mice and the results showed that the concentration of the drug reaching the brain in the case of P80 modified nanoparticles was maximum as compared to Plain PLGA nanoparticle, and aqueous solution of the drug. Pharmacodynamic studies were performed to assess the delay in different phases of convulsion and the results showed that the modified nanoparticles of gabapentin were able to significantly delay the episodes of convulsion. Overall, results demonstrate that modified nanoparticles are potential drug carriers in the brain for the management of epilepsy.

Lissencephaly, Pachygyrias, Band Heterotopias, RELN Pathway, and ARX Mutations (Incomplete Neuron Migration)

AbstractLissencephaly (LIS) is a group of malformations of cortical development consisting of a defective neuronal migration that results in lack of formation of the normal cerebral convolutions. It includes a spectrum of defect with varying degrees of severity, from agyria and pachygyria to subcortical band heterotopia. The etiopathogenesis of LIS includes both genetic and environmental factors. Although nongenetic forms of LIS have been reported, genetic causes are certainly more frequent and to date 19 LIS-SBH-associated genes have been identified. Most common mutations involve LIS1, DCX, ARX, and RELN genes. Clinically affected individuals present with early hypotonia, which can progress to limb spasticity, seizures, and psychomotor retardation. Convulsive episodes usually appear early (first months of life) and include infantile spasms, akinetic or myoclonic seizures, up to the development of complex epileptic syndromes, including atypical absences, myoclonia, and partial or tonic–clonic seizures. Several clinical entities are associated with classical LIS, including the following: isolated lissencephaly sequence (ILS); Miller–Dieker syndrome (MDS; OMIM 247200); subcortical band heterotopia (OMIM 300067); X-linked LIS with abnormal genitalia; and LIS with cerebellar hypoplasia. Diagnosis primarily depends on genetic and neuroimaging. Magnetic resonance imaging (MRI) is the gold standard, and it detects the presence of thick cortical cortex, its location, and the layers' architecture. Based on neuroimaging, it is possible to distinguish six subtypes of gyral malformations. Clinical and therapeutic management of these patients is challenging, considering the necessity to face drug-resistant epilepsy, intellectual disability, spasticity, and dysphagia and feeding problems. At the present moment, no gene-specific treatment for LIS is available.

Isolated Cortical Vein Thrombosis: A Case Report

Isolated cortical vein thrombosis (ICVT) is a rare entity of cerebral venous thrombosis (CVT) that represents a third leading cause of death during pregnancy and puerperium. IVCT manifests with wide spectrum of symptoms including headache, seizure, focal neurological deficits and changed mental status, makes the diagnosis challenging. Pregnancy, puerperium, lumbar puncture, trauma and infection, genetic predisposing and acquired prothrombotic causes, all are well recognized risk factors for ICVT. Although no established universal consensus for management, IVCT generally treated by anticoagulant. In this paper, a case of IVCT reported in 25 years old postpartum mother, delivered by cesarean using epidural anesthesia. The case presents by persisting non-orthostatic headache in first few days post-delivery that treated as post dural puncture headache but not improved. On day 7 post-delivery developed multiple episodes of focal convulsion progressed to generalized tonic-clonic convulsion associated by left hemi-paresis. MRI gradient echo sequences showed liner hypo-signal lesion with configuration of cortical vein over right high parietal area. The MRV showed multiple small filling defects along the right cortical vein in favor IVCT. The patient treated successfully by enoxaparin (according her body weight) followed by warfarin for 3 months with complete resolution of the neurological deficit.

Concealed Long-QT Syndrome with Rare KCNQ1 Gene Mutation in an Elderly Female: A Case Report

Long QT syndrome (LQTS) is a hereditary disorder that can lead to recurrent syncope, convulsive episodes, and sudden death due to ventricular arrhythmia. In most instances, LQTS remains concealed and primarily presents as unexplained syncope despite have a normal electrocardiogram (ECG) during periods of rest. This characteristic can be highly deceptive and may result in severe and potentially fatal consequences if treated incorrectly. In this report, we present a case of concealed LQTS in an elderly female patient who experienced an initial episode of syncope at the age of 76. Upon admission, the surface ECG showed no abnormalities. However, during the bedside ECG examination, typical manifestations of LQTS were detected, indicating an early stage of the ictal process. Subsequent treatment with βblockers provided symptomatic relief. Genetic testing identified a rare mutation, p. Arg366Trp (with a c.1096C>T variant), in the KCNQ1 gene, confirming the diagnosis of LQTS. Although congenital LQTS cases are more commonly found in young females, the potential for LQTS should not be overlooked in elderly patients who complain of unexplained syncope, even if their ECG normal. The use of an artificial intelligence (AI)-based diagnostic tool has the potential to offer a more precise means of identifying concealed LQTS in the future, but, until now, thorough examination and close observation during admission is necessary to avoid missed diagnoses of the concealed LQTS-syndrome.

Etiological and risk factors in recurrent febrile seizures: Insights through EEG analysis.

Febrile seizures, convulsive episodes in young children during febrile illnesses, are a significant concern due to their potential for recurrence and associated uncertainties. This study investigated the causes and risks associated with recurrent febrile seizures and the critical role of electroencephalogram (EEG) in their accurate diagnosis. Following Institutional Review Board approval and going through the consenting process with parents, this study gathered the clinical features and EEG recordings of children admitted with febrile seizures in the Department of Pediatrics, Mahatma Gandhi Memorial Hospital, Kakatiya Medical College, Warangal, Telangana, India. Descriptive statistics, including mean, standard deviation (SD), frequencies, and percentages, were computed to understand the data comprehensively. The Chi-Square test was employed to analyze the association between variables, with a significance level of 0.05, ensuring reliable and trustworthy findings. Out of 42 children studied, 28 (66.67%) presented with simple febrile seizures, with the mean time of occurrence of seizures from the onset of fever being 7.85 hours. Abnormal EEG was seen in 50% of children with complex febrile seizures and 16% with simple febrile seizures. Generalized epileptiform discharges were the most common epileptic activity observed. Low sodium levels had a significant relationship with febrile seizures in the analysis. This study emphasizes the importance of EEG in diagnosing febrile seizures, particularly in complex cases. Our findings suggest that low sodium levels may be a significant risk factor for febrile seizures. Further research is necessary to identify other preventable risk factors to reduce the burden of the medical condition.

NATURE'S SHIELD: UNVEILING THE PROTECTIVE POWER OF SHARKARA YUKTA GAU-DUGDHA AS PRATIVISHA AGAINST DATURA METEL INDUCED TOXICITY IN ALBINO WISTAR RATS - A RESEARCH ARTICLE

Datura (Datura metel) is recognized as a cerebrotoxic deliriant poison and is concurrently categorized as "Upavisha" within Ayurvedic principles. Ayurveda encompasses a spectrum of toxic substances along with their respective antidotes; however, the mechanisms underlying these antidotal effects remain unelaborated in the ancient texts. A segment in the "Rasa jal Nidhi" Part 3 (Chapter 8), titled "Dhusturbeejasya Shanti," delineates the potential antidote properties of Gau dugdha in a proportion of one prastha and sharkara (sugar) in a quantity of two pal, positing a potential counteraction against Datura toxicity. The objective of this study is to scientifically evaluate the efficacy of these antidotal agents in mitigating Datura seed-induced toxicity, so that it can be useful in emergencies. Methods: Albino Wistar rats are employed as the chosen animal model to investigate the antidotal effect of Sharkara Yuka Gau-dugdha against Datura beeja (seed) powder-induced toxicity. The assessment encompasses a comprehensive range of criteria encompassing alterations in weight, modifications in dietary and hydration habits, behavioral shifts, lethaginss, fluctuations in temperature, emergence of convulsive episodes, performance in the Radial Arm Test, Rotarod activity, locomotion, and mortality. Results: Following administration of Sharkara Yuka Gau-dugdha, discernible alleviation of the deleterious effects associated with Datura exposure is evident. Noteworthy observations encompass a reduction in responses during the Radial Arm Test, suggestive of a positive influence on cognitive faculties such as learning and memory. Additionally, an increase in time spent on the Rotarod apparatus signifies enhanced muscle strength and augmented motor function. Conclusion: The findings gleaned from this experimental study culminate in the conclusion that Sharkara Yuka Gau-dugdha holds moderate potential to ameliorate the extent of toxic manifestations elicited by Datura exposure.

Persistent trigeminal artery variant and presumed ophthalmic artery simultaneously arising from the inferolateral trunk incidentally diagnosed by magnetic resonance angiography.

To describe a case of persistent trigeminal artery variant (PTAV) and presumed ophthalmic artery (OA) simultaneously arising from the inferolateral trunk (ILT). A 53-year-old woman with an initial episode of convulsion underwent cranial magnetic resonance imaging (MRI) and MR angiography (MRA) of the intracranial region for the evaluation of brain and vascular lesions. The MR machine was a 3-T scanner. MRI revealed no pathological brain lesions. On MRA, the left anterior inferior cerebellar artery (AICA) arose from the cavernous segment of the internal carotid artery (ICA), indicative of the PTAV. The arising point was more distal than the usual point, and the presumed OA also arose simultaneously from the short common trunk, which was considered the ILT. There are two types of PTA: lateral (usual) and medial (intrasellar) PTA. The lateral-type PTA and PTAV arise from the ICA of the distal precavernous-proximal cavernous segment and take a course similar to that of the posterior fossa. The medial type arises slightly more in the distal cavernous segment than in the lateral type. The OA rarely arises from the cavernous segment of the ICA and enters the orbit via the superior orbital fissure. The origin of this type of OA is considered to be the ILT. We herein report a case of a PTAV and presumed OA arising simultaneously from an ILT. No similar case has been reported in the relevant English language literature.

Awareness and Practice of Febrile Convulsions First Aid Among Parents of Convulsing Children Admitted to Hospitals in Khartoum 2022

Introduction: Febrile convulsion (FC) is a convulsive episode accompanied by fever in children under five years old. It is a common cause of hospital admissions and can induce fear and anxiety among parents and caregivers. Educating parents and caregivers about FC first aid and home management is crucial to alleviate these concerns. Objectives: This study aimed to assess the awareness and practice of FC first aid among parents of convulsing children admitted to hospitals in Khartoum. It also aimed to determine the socio-demographic data of parents, evaluate their knowledge about FC, assess their practices towards convulsing children, and correlate them with age, socioeconomic status, level of education and recurrence of FC. Methodology: A cross-sectional hospital-based study was conducted on 288 participants from Ibrahim Malik Teaching Hospital, Turkish Hospital, Ahmed Gasim Hospital for Pediatric, Omdurman Hospital for Children, and Albuluk Hospital. Results: The study included 219 mothers (76%), 36 fathers (12.5%), and 33 others (11.5%). Less than half of participants were between 20-30 years old (46.9%), 59% had a medium socioeconomic status, and 37.8% had a secondary level of education. Regarding knowledge about FC, 57.3% of participants had average knowledge, 17% had poor knowledge, and 25.7% had good knowledge. However, when it came to practice, the majority exhibited poor practice (89.9%), with only 10.1% demonstrating average practice. The study also found a correlation between the knowledge and practice of parents with their age, educational level, and income. However, there was no significant association with recurrence of FC. Conclusion: The study emphasizes the need for improved education and awareness among parents and caregivers regarding FC first aid and home management. There is a gap between knowledge and practice, highlighting the importance of targeted interventions and educational programs to enhance the care and management of convulsing children.

SURG-15. RIGHT FRONTAL-PARIETAL PILOCYTIC ASTROCYTOMA WHO GRADE I ASSOCIATED WITH HEMORRHAGIC COMPONENT AND ESSENTIAL HYPERTENSION IN AN ADULT

Abstract Pilocytic astrocytoma (PA) is a primary glial neoplasm and low-grade tumor. After total resection, the prognosis is very good. A poor prognosis results from leptomeningeal spreading and bleeding, both of which are extremely uncommon in Pilocytic Astrocytoma patients. Case presentation We report the case of a 43-year-old male that presented with a 4 days’ history of right sided frontal headache, non-radiating and mostly felt in the morning. Not associated with vomiting and fever. In addition, there was a sudden decline in level of consciousness with no associated stool or urine incontinence. The patient also developed three episodes of tonic clonic convulsions, lasting less than 3 minutes associated with urine incontinence and frothing from the mouth. Two days later, there was a sudden onset of left sided weakness involving upper and lower limbs. However, there is no history of trauma or hypertension. He was identified as having a hemorrhagic right frontal-parietal PA evidence on MRI associated with essential hypertension. The patient had an intervention combination of medical treatment and craniotomy via fronto-temporal approach plus excision of lesion. Histopathological examination of specimen determined that it was PA WHO grade I. He was treated with oral anti-epileptic therapy (Phenytoin 300 mg once a day), folic acid supplementation (400 mcg once a day), anti-hypertensive therapy (Amlodipine 10 mg and Losartan 50 mg once daily) and he showed marked improvement and was discharged home after 1 month and followed up by primary neurosurgeon, oncologist and physician. CONCLUSION: This case report raises awareness of Pilocytic Astrocytoma among adults and emphasizes the value of early diagnosis and management of patients with Pilocytic Astrocytoma associated with essential hypertension can prevent complications, reduce morbidity and mortality.

GLIOMA-13 RIGHT FRONTO-PARIETAL PILOCYTIC ASTROCYTOMA WHO GRADE I ASSOCIATED WITH HEMORRHAGIC COMPONENT AND ESSENTIAL HYPERTENSION IN AN ADULT: A CASE REPORT

Abstract Pilocytic astrocytoma (PA) is a primary glial neoplasm and low-grade tumor. After total resection, the prognosis is very good. A poor prognosis results from leptomeningeal spreading and bleeding, both of which are extremely uncommon in Pilocytic Astrocytoma patients. CASE PRESENTATION: We report the case of a 43-year-old male that presented with a 4 days’ history of right sided frontal headache, non-radiating and mostly felt in the morning. Not associated with vomiting and fever. In addition, there was a sudden decline in level of consciousness with no associated stool or urine incontinence. The patient also developed three episodes of tonic clonic convulsions, lasting less than 3 minutes associated with urine incontinence and frothing from the mouth. Two days later, there was a sudden onset of left sided weakness involving upper and lower limbs. However, there is no history of trauma or hypertension. He was identified as having a hemorrhagic right fronto-parietal PA evidence on MRI associated with essential hypertension. The patient had an intervention combination of medical treatment and craniotomy via fronto-temporal approach plus excision of lesion. Histopathological examination of specimen determined that it was PA WHO grade I. He was treated with oral anti-epileptic therapy (Phenytoin 300 mg once a day), folic acid supplementation (400 mcg once a day), anti-hypertensive therapy (Amlodipine 10 mg and Losartan 50 mg once daily) and he showed marked improvement and was discharged home after 1 month and followed up by primary neurosurgeon, oncologist and physician. CONCLUSION: This case report raises awareness of Pilocytic Astrocytoma among adults and emphasizes the value of early diagnosis and management of patients with Pilocytic Astrocytoma associated with essential hypertension can prevent complications, reduce morbidity and mortality.

Progressive multifocal leukoencephalopathy in an adolescent child infected with human immunodeficiency virus: a case report

Progressive multifocal leukoencephalopathy (PML) is an AIDS-defining neurologic disease caused by the JC polyoma virus. It typically occurs in immunocompromised individuals and without treatment, patients have a relentless downhill course. Early detection may improve the prognosis. A 12-year-old male child, a known HIV positive case with abdominal tuberculosis on ATT for 15 days, was brought to us in status epilepticus. After controlling seizures with phenytoin, the child was intubated and mechanically ventilated. Antiretroviral therapy (ART) was withheld temporarily and Anti-tuberculous therapy (ATT) was modified. Plain computerised tomography of the brain showed atrophy of brain parenchyma. Five days after the patient was shifted out of ICU, he again developed multiple episodes of convulsions. All reversible causes were investigated for and ruled out. MRI brain revealed features suggestive of PML with diffuse cerebral and cerebellar atrophy which was disproportionate to age. At present, the incidence of PML in children affected with HIV is still rare. There is still limited information regarding this spectrum of patients, especially their further management following diagnosis. Precise treatment protocols would help guide clinicians in regard to diagnosis and management of these complex cases.

Xanthinuria: A Rare Case Report

INTRODUCTION: Classical xanthinuria is an autosomal recessive hereditary disease which manifests as a result of deficiency of xanthine dehydrogenase which converts hypoxanthine, and xanthine into uric acid. Molybdenum cofactor deficiency, an inherited form of xanthinuria, causes hyperreflexia, microcephaly, and other central nervous system symptoms in newborns. Molybdenum cofactor deficiency, an inherited form of xanthinuria, causes hyperreflexia, microcephaly, and other central nervous system symptoms in newborns. The function of three different enzymes (xanthine dehydrogenase, aldehyde oxidase, and sulfite oxidase) depends on a molybdenum-containing cofactor that is congenitally defective in this disorder. CASE REPORT: A full term female baby born to a G3P1L1A1 mother via normal vaginal delivery was referred from outside hospital on day of life 10 in view of one episode of convulsion on day 3 of life. Baby was screened for inborn errors of metabolism which revealed increased excretion of Xanthine in urine. MRI of brain was done which showed extensive areas of diffusion restriction involving bilateral cerebral hemispheres, bilateral corticospinal tracts and corpus callosum suggestive of Acute hypoxic ischaemic encephalopathy. DISCUSSION: Because of enzymatic deficiency, xanthine dehydrogenase cannot be converted into uric acid which leads to increase in blood levels, and urinary excretion of hypoxanthine, and xanthine. Since these substances have a lower solubility in urine, they accumulate in the urinary system leading to formation of stones. Reduced or undetectable serum uric acid levels associated with MoCD are a result of the deficiency of xanthine dehydrogenase. Most of the patients with classical xanthinuria are asymptomatic, and in 30% of the cases urolithiasis develops. CONCLUSION: Refractory seizures, encephalopathy, and the absence of radiologic signs of HIE a positive family history of perinatal asphyxia, and refractory seizures are contributors in newborn fatalities that demonstrate a significant tendency to develop xanthinuria. A thorough research regarding its prevalence and prognosis should be done. Keywords: xanthinuria, autosomal recessive hereditary disease, newborn

NMDA, AMPA and GABA Receptor Antibodies: Relation to Clinical and Electrophysiological Findings in Drug-Resistant Epilepsy

Abstract Background Epilepsy is a neurological disorder characterized by sudden recurrent episodes of convulsions, sensory disturbance, or loss of consciousness, resulting from abnormal electrical brain activity. It can have both genetic and acquired causes, with interaction of these factors in many cases. Auto-antibodies against synaptic receptors have been detected in a number of neurological conditions such as anti-NMDA receptor encephalitis and limbic encephalitis. Recently, three types of synaptic receptors have been the subject of research as regarding their role in the normal physiology of the nervous system, and their involvement in various neurological conditions. These receptors include AMPA receptors, NMDA receptors and GABAB receptors. Antibodies directed against these receptors may be the underlying cause of many cases of drug resistant epilepsy. Objectives To determine the prescence of autoantibodies against AMPA, NMDA and GABAB receptors in drug-resistant epilepsy and their correlation with clinical and electrophysiological findings. Methods The study was conducted on 17 epilepsy patients (12 males and 5 females) who were sampled for both CSF and blood. All CSF and serum samples were examined by the Indirect Immunofluorescence cell based technique for the detection of AntiAMPAR, Anti-NMDAR and Anti-GABAB antibodies. Results Only one case tested positive for Anti-NMDAR antibodies in CSF, while all other serum and CSF samples were negative for other antibodies. These results are still in process since our data will be used in a further study related to auto-immune drug-resistant epilepsy patients involving other auto-antibodies such as Ant-LGI1, Anti-CASPR2 and Anti-DPPX antibodies. Conclusion Testing Anti-NMDAR antibodies can be promising in detecteing drug resistant epilepsy patients even after receiving immunomodulatory treatment protocols.

Familial isolated hypoparathyroidism type 2: a case report with review of literature

Familial isolated hypoparathyroidism (FIH) is a rare group of genetic disorder associated with dysregulation of parathyroid hormonal axis characterized by refractory hypocalcaemia. Herein we report a 1 month 4 days old baby born out of consanguineous marriage presented with respiratory distress with single episode of convulsion, cause pointing towards hypocalcaemia. The hypocalcaemia symptoms were refractory despite repeated calcium gluconate. Laboratory parameters yielded evidence of hypoparathyroidism which was further strengthened by neuroimaging and skeletal imaging. The hypoparathyroidism was treated by oral calcitriol and calcium supplementation along with institution of phosphate binder. Whole genome exome sequencing revealed a novel nonsense mutation of glial cell missing transcription factor 2 (GCM2) gene variant c.109C>T (p.Gin37Ter) establishing the diagnosis as FIH type 2. The calcium and phosphate normalized in further follow up. The new found locus and the novel variation of GCM2 gene adds another feather to the ever-evolving genetic conundrum of the disease.