Seizure Episodes Research Articles

Recreational Marijuana Use Leading to Thrombosis in a Patient with Minimal Cardiovascular Risk Factors

Marijuana is one of the most commonly used psychotropic drugs in the United States. Recent legalization of cannabis and decriminalization in multiple jurisdictions in the United States has contributed to its increased availability and social acceptance, especially in young adults. The overall prevalence of cardiovascular disease in young adults has been increasing as a consequence of marijuana use. However, there remains a paucity of knowledge on its adverse effects, especially with regards to the cardiovascular system. Here, we present a case of a young adult with a history of marijuana use and minimal cardiovascular risk factors who presents following a seizure episode and was found to have coronary artery thrombosis. A high degree of suspicion, along with a better understanding of the biochemical pathways involved in cannabis associated myocardial ischemia is extremely important to treat this condition promptly and prevent fatal outcomes. After the legalization of cannabis in various states in the United States, there is an increasing need to understand and educate the public regarding health hazards, especially on the cardiovascular system.

AN OBSERVATIONAL STUDY: TO ASSESS THE THERAPEUTIC OUTCOME AND PREVALENCE OF NEUROLOGICAL PSYCHOLOGICAL AND COGNITIVE EFFECTS IN PATIENTS TAKING ANTIEPILEPTIC MEDICATION

Epilepsy is defined as chronic non-communicable disease of brain affecting 50 million people worldwide. It can be distinguished by repeated seizures of an involuntary movement which involves partial body or entire body which sometimes is accompanied by loss of consciousness. The episodes of seizures are a result of excessive electrical discharges in the brain.1 70 million, people in the world have epilepsy marking the world’s second most common neurological disorder.2 With a conservative evidence, an estimate of 1% epilepsy of prevalence more than 12 million people are with epilepsy in India. At global level the prevalence of epilepsy is 5-9 per 1000 population. Most of male than female is said to be affected with epilepsy with overall a lesser difference. According to the Global Data, over 5 million are diagnosed by epilepsy each year.2 The Comparison between High Income countries and Middle- and low-income countries shows us that epilepsy is more prevalent in middle- and low-income countries due to many endemic conditions and a higher incidence of road injuries, birth-related injuries which are not taken care at the earliest, poor health education and no optimal medical infrastructure.

Abstract #1174376: Atraumatic Adrenal hemorrhage in a patient anticoagulated with Apixaban

Adrenal hemorrhage is an unusual complication with anticoagulation. Case reports have been mostly limited to patients on unfractionated or low-molecular weight heparin. We present a case of Apixaban induced adrenal hemorrhage. The patient is a 48-year-old man with hypertension who had DVT and PE from immobilization. He was started on Apixaban for VTE prophylaxis. After 4 days on Apixaban he presented to the ED with nausea, fatigue, and constipation but was hemodynamically stable. Labs were okay, except WBC of 11. CT Abdomen showed right adrenal stranding with features of pyelonephritis and cystitis. He was discharged home from ED on antibiotics and laxatives. He presented with nausea, vomiting, diarrhea, and an episode of a tonic-clonic seizure 10 days later. He was found to be hypotensive and tachycardic. Labs showed Na 103 mmol/L, K 6.1mmol/L, Creatinine 1.2mg/dl, CO2 11meq/L, Anion gap 13, PM Cortisol of 5.40mcg/d. He was admitted to the ICU for further management. The electrolyte imbalance was attributed to diarrhea and treated with ½ NS, NaHCO3 drip and Tolvaptan. He improved clinically with the correction of electrolyte abnormalities. Apixaban was switched to Rivaroxaban on discharge. At follow up with PCP, he was feeling better, but not yet at his baseline. After a 3-month course of Rivaroxaban he was transitioned to Aspirin. The antihypertensive therapy was discontinued as he developed orthostatic hypotension with normal BP. Over time, he had shortness of breath, fatigue, hyperpigmentation, and weight loss of about 20 kg. Repeat labs were, Na 131mmol/L, K 6.1mmol/L, Creatinine 1.6 mg/dl, Cortisol AM 1.7 mcg/dL, Aldosterone < 1ng/dl, Glucose 82. On the Cosyntropin stimulation test ACTH was > 2000, AM Cortisol was 1.4 μg/dL and Cortisol at 60 minutes was 1.5 μg/dL. He was confirmed to have Adrenal insufficiency and PO Hydrocortisone 15 mg in AM and 5 mg in the afternoon, Fludrocortisone 0.05 mg daily were initiated with marked improvement of the symptoms. A CT abdomen one year later, revealed resolution of the periadrenal stranding and a nodular opacity in the right adrenal gland. Diagnosis of adrenal hemorrhage can be neglected, due to nonspecific presentation. Our patient presented within 4 days of starting Apixaban. Although CT abdomen at that time was suggestive of an adrenal hemorrhage, the mentioned inflammatory changes were incorrectly attributed to the possible pyelonephritis. These changes have also been reported to precede adrenal hemorrhage. As the use of NOAC increases, physicians must be aware of adverse reactions in the appropriate clinical setting and treat accordingly.

Abstract #1184485: Delayed diagnosis of Pseudohypoparathyroidism with secondary Fahr syndrome in adulthood -- A case report

Secondary Fahr syndrome is a rare entity characterized by the presence of abnormal calcifications in the basal ganglia and cerebral cortex, and has been linked with endocrine disorders particularly parathyroid and vitamin D disturbances. Herein we report a case of pseudohypoparathyroidism (PHP) in an adult presenting with frequent episodes of recurrent seizures and spasms of hands and feet.

Identification of a novel homozygous intron 3 splice site (A>T) mutation in the ARG1 gene in cerebral palsy pediatric cases from Odisha, India.

Arginase enzyme is essential for the catalysis of the last step of the urea cycle, resulting in the conversion of L-arginine to L-ornithine and urea. Arginase deficiency could lead to hyperarginemia, an autosomal recessive disorder of the urea cycle that could result in developmental manifestations after the first year of life, followed by gradually progressive atonic cerebral palsy, spastic quadriplegia, and mental decline. ARG1 mutations have been reported in hyperarginemia patients of Western countries because they exhibited reduced arginase activity. Hence, it is important to assess ARG1 mutations in cerebral palsy cases with hyperarginemia in different populations. This study involved two unrelated pediatric patients from two non-consanguineous East Indian families, exhibiting a range of manifestations, including hypotonia of all limbs, mental retardation, and multiple episodes of seizure. The onset of the disease ranged from 1 to 3years of age. Hyperammonemia (> 250 micromoles) and serum hyperarginemia (> 350 micromoles) were observed in both the patients. Whole-genome sequencing, followed by Sanger sequencing of both the patients confirmed the presence of a homozygous 3' splice site variation in intron 3 of the ARG1 gene (chr6: g.131902357A>T) that affects the invariant AG acceptor splice site of exon 4 (c.330-2A>T; ENST00000356962.2). The study reported the identification of a novel ARG1 mutation in two different unrelated pediatric cases from Odisha, India associated with hyperarginemia. The pathogenicity of the mutation was robustly supported by the clinical phenotype, complete co-segregation with the disease, and biochemical observations.

Hormesis Effect of Radon in Rats of the Krushinsky-Molodkina Line

According to this research, the use of radon inhalation in experimental animals, particularly in genetically determined rats with epileptic seizures, altered all parameters of the epileptic seizure development picture, namely the hidden period and the first and second wild jog duration after the audiogenic signal. On the third day, no response to the audiogenic signal was observed at all, and there was not even a single episode of tonic-clonic seizures. All what was mentioned suggests that radon inhalation can be used to treat epilepsy. This study is the first precedent of attempting R-Ho through inhalation for treatment of epileptic seizures in animal models with further translation to clinical study in humans through pilot phase II study. More profound and scientifically systematized approach is needed to determine the uniqueness of Tskhaltubo water springs, investigating the mechanisms of radon effects on the excitatory and inhibitory functioning of CNS, and the use of further clinical studies to establish its effectiveness on humans.&#x0D;

Depression in adults with epilepsy attending epilepsy clinic in tertiary care hospital: an observational study

&lt;p&gt;&lt;strong&gt;Background:&lt;/strong&gt; Epilepsy is a chronic neurological disorder characterized by recurrent unprovoked seizures. Depressive disorders are the most common psychiatric co-morbidity in patients with epilepsy. Early detection and treatment improve overall health related quality in these patients.&lt;strong&gt;&lt;/strong&gt;&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A prospective cross sectional observational study was conducted across 6 months (December 2018-May 2019) in a tertiary care hospital. The present study included 50 registered patients and various socio-demographic factors like age, sex, marital status, literacy, drug compliance and status of seizure control etc. were evaluated in regards to prevalence and severity of depression.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Out of 50 patients, 27 patients (54%) showed signs of depression. Out of which 10 patients (20%) showed signs of mild depression, 6 patients (12%) showed signs of moderate depression, 7 patients (14%) showed signs of moderately severe depression whereas 4 patients (8%) showed signs of severe depression and there was a strong association of drug compliance, current epilepsy status and last seizure episode with various degree of depression.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;Depression is an illness with a significant morbidity and mortality. Its association with epilepsy is very strong. Various factors contribute to depression which include compliance of drugs, last seizure episode, current status of epilepsy, etc. Unfortunately, depression among epileptics is very much under diagnosed and therefore untreated. A through psychiatric assessment should be done in these patients with epilepsy for depression and appropriate treatment should be instituted.&lt;/p&gt;

EEG Oscillatory Networks in Peri-Ictal Period of Absence Epilepsy.

ObjectiveTo investigate the dynamical brain network changes before and after an absence seizure episode in absence epilepsy (AE).Methods21 AE patients with a current high frequency of seizures and 21 sex- and age-matched health control (HC) who reported no history of neurological or psychiatric disorders and visited the hospital for routine physical examinations were included. Each included subject underwent a 2-h and 19-channel video EEG examination. For AE patients, five epochs of 10-s EEG data in inter-ictal, pre-ictal, and post-ictal states were collected. For the HC group, five 10-s resting-state EEG epochs were extracted. Functional independent components analysis (ICA) was carried out using the LORETA KEY tool.ResultsCompared with the resting-state EEG data of the HC group, the EEG data from AE patients during inter-ictal periods showed decreased alpha oscillations in regions involving the superior frontal gyrus (SFG) (BA11). From inter-ictal to pre-ictal, SFG (BA10) showed maximum decreased delta oscillations. Additionally, from pre-ictal to post-ictal, superior temporal gyrus (STG) (BA 22) presented maximum increased neural activity in the alpha band. Moreover, compared with inter-ictal EEG, post-ictal EEG showed significantly decreased theta activity in SFG (BA8).ConclusionThe changes in SFG alpha oscillations are the key brain network differences between inter-ictal EEG of AE patients and resting-state EEG of HCs. The brain networks of EEG oscillatory during peri-ictal episodes are mainly involving SFG and STG. Our study suggests that altered EEG brain networks dynamics exist between inter-ictal EEG of AE patients and resting-state EEG of HCs and between pre- and post-ictal EEG in AE patients.

A Case Report On Most Common Neurological Symptoms Of Dural Venous Sinus Thrombosis

Background- Dural venous thrombosis is the serious neurological disorder occurs due to clotting of blood within the venous sinuses of the brain. It is known as cerebral venous sinus thrombosis (CVST). The clot prevents blood from leaving the brain. As a result, the blood arteries become clogged with pressure. This can cause brain enlargement and bleeding (haemorrhage). This sequence of events is part of a stroke, which can affect both adults and children. Even newborns and kids in the womb are susceptible. The brain and central nervous system can be damaged by a stroke. A stroke is a serious condition that necessitates prompt medical attention. Cerebral Sino-Venous Thrombosis is another name for this disorder. The patients may suffer with severe headaches, vision problems, any of the stroke symptoms, such as weakness on one side of the body's face and extremities and seizures. All are possible signs when thrombosis occur in the dural sinuses. Computed tomography (CT scan) or magnetic resonance imaging (MRI) are routinely used to diagnose venous sinus occlusions. Case presentation: We present a case of 30-year-old male patient with the complaints of left sided headache in the last 7-8 days. The patient has the history of seizure episode associated with dementia. Also, it has the complaints of pain on the left sided upper and lower limb, paraesthesia lasting for 30 min to 1 hr. The diagnosis was done with the help of blood tests, hormonal tests, and magnetic resonance imaging (MRI).

Clinical Evaluation of Levetiracetam in the Treatment of Epilepsy.

Objectives Epilepsy is a chronic neurological disorder that is characterized by episodes of seizure. Methods In this study, patients with status epilepticus in the Intensive Care Unit of the Department of Neurology of Qujing First People's Hospital were collected and treated with levetiracetam injection, continuous bedside EEG monitoring (cEEG) technology, and quantitative EEG (qEEG) technique. The inhibitory effects of different doses of levetiracetam injection and sodium valproate on abnormal discharge, the improvement of clinical symptoms, the incidence of adverse reactions, and prognosis were monitored, analyzed, and compared. Results Compared with the experimental group of sodium valproate, 1000 mg/d levetiracetam group and 1500 mg/d levetiracetam group had a high probability of successful symptom control and a short control time. The patients had a low recurrence rate and a long recurrence time, and the probability of abnormal discharge in EEG was low. Conclusions The recording results showed that levetiracetam could significantly inhibit the abnormal discharge of patients. Compared with sodium valproate, high-dose levetiracetam is a drug with a rapid effect, good effect, and long action time.

An Adult Patient with Seizure and Supraventricular Tachycardia (SVT) - Occam’s Razor or Hickam’s Dictum

This is a case report describing a young lady presenting with both seizure and supraventricular tachycardia (SVT) to the emergency department (ED). She was previously well, asymptomatic with no risk factors for both conditions. A 33-year-old lady presented to the emergency department (ED) with her first episode of seizure. She was found in the kitchen with up rolling of eyes, jerking of all four limbs which self-aborted after two minutes. Electrocardiogram (ECG) performed showed supraventricular tachycardia, which reverted to sinus rhythm after administration of intravenous adenosine. Post conversion ECG showed normal sinus rhythm, absence of pre-excitation and normal QTc. Laboratory tests and computed tomography of the brain were normal. This case highlights the complex relationship between seizure and cardiac arrhythmia. SVT and seizure occurring at the same time is unusual. Clinicians need to rule out hypoxic convulsions. Epilepsy and seizures could also have a profound effect on cardiac function. Drug therapy for epilepsy is not without influence on heart rhythm. Both alcohol and illicit drugs could also precipitate concurrent seizure and SVT. Is this a case of Occam’s razor or Hickam’s dictum?

Evaluation of one-year effectiveness of clobazam as an add-on therapy to anticonvulsant monotherapy in participants with epilepsy having uncontrolled seizure episodes: An Indian experience

ObjectivesTo prospectively study the effectiveness and safety of clobazam as an add-on therapy in patients with epilepsy whose seizures are not adequately controlled with antiseizure medicine (ASM) monotherapy. MethodsWe conducted a prospective, observational study at 28 neurology outpatient clinics in India from June 2017 to October 2019. Consecutive patients with epilepsy (older than 3 years) with inadequate seizure control with ASM monotherapy were initiated on clobazam. Patients were followed up at 1, 3, 6, 9, and 12 months. Seizure control and adverse events were assessed through personal interviews and seizure diaries. ResultsOut of 475 eligible patients, data of 429 patients (men: 65.5%) were evaluated (46 excluded due to protocol deviations). The median age was 25 (range, 3–80 years) years and the median duration of epilepsy was 3 (0.1–30) years. The majority of patients had focal epilepsy (55.0%) and genetic generalized epilepsy (40.1%). The one-year follow-up was completed by 380 (88.5%) patients. At one-year follow-up, 317 (83.4%; N = 380) patients in the study remained seizure free. These 317 patients who were seizure free at 12 months comprised 73.9% of the evaluable population (N = 429). In 98.8% of patients, the primary reason for adding clobazam was inadequate control of seizures with treatment. During one-year follow-up, a total of 113 (22.6%) patients experienced at least one adverse event which included 103 (20.6%) patients who experienced 386 episodes of seizures. ConclusionThe study provides preliminary evidence that clobazam is effective and well-tolerated as add-on therapy for a period of one year among patients with epilepsy inadequately stabilized with monotherapy. Trial registration numberCTRI/2017/12/010906.

The effect of liver transplantation for argininemia-the largest experiences in a single center.

Argininemia, a rare urea cycle disorder resulting from an arginase-1 deficiency, is characterized by a progressive spastic paraplegia. While advances in diagnosis and treatment have increased the management of this condition, not all symptoms are resolved in response to traditional therapies. Interestingly, there exist some rare reports on the use of liver transplantation (LT) for the treatment of argininemia. We conducted a retrospective study of eleven patients with argininemia receiving a LT as performed at our center over the period from January 2015 to November 2019. These patients were included due to their poor responses to protein restriction diets and alternative therapies of nitrogen scavengers. Detailed information on coagulation, liver function, histopathological and morphological examination of liver samples, and other clinical presentations were extracted from these patients. A grading scale was used for evaluating the neurological status, classification of physical growth and quality of life of these patients in response to the LT. Prior to LT, high levels of arginine were detected in all of argininemia patients and liver enzymes were elevated in nine of those patients. Nine patients presented with coagulation dysfunction without bleeding symptoms. Spastic paraplegia, irritability, intellectual developmental disability, and growth deficits were hallmarks of these nine patients, while four patients showed repeated, generalized tonic-clonic seizures before the operation. Seven novel mutations were found in these patients. The indication for LT in this series of patients was a presentation of progressive neurological impairments. After LT, the coagulation index and plasma arginine levels returned to normal and episodes of seizure were controlled in four patients. To date, all patients have survived and their LT has resulted a restoration of arginine metabolism and liver function, along with preventing further neurological deterioration, all of which provided an opportunity for future recuperation. Overall, the neurological status, growth deficits and quality of life were all significantly improved after LT with no evidence of severe complications. LT can serve as an effective treatment for argininemia in patients who respond poorly to traditional therapy. An early intervention of LT should be conducted in these patients to prevent neurological damage and improve their quality of life.

Elevation of depressed (pond) fracture in infant using a vacuum-assisted device: Technical note

Abstract Introduction: Pond fracture also called ping-pong fracture in children is caused due to direct impact on the skull. It is rare and many types of treatment modalities have been described. In this report, we describe a makeshift vacuum-assisted device to elevate the fracture, which is both cost-effective and efficient. Case presentation: A 5-month-old infant was brought to the emergency department with a history of fall of heavy object on the head resulting in pond fracture over the left parietal area and an episode of focal motor seizures. After ruling out an intracranial injury with a computer tomogram, we elevated the depressed fracture by a makeshift vacuum suction device using a plastic funnel connected to vacuum chamber. Post-procedure child had one episode of focal seizure and was discharged after a brief period of observation. Conclusion: Plastic funnel vacuum suction can be effectively used to elevate the Pond fractures in infants with appropriate precautions.

Factor XIII Deficiency in a Mother-Baby Dyad

Background: Factor XIII deficiency is a rare autosomal recessive coagulation disorder with varied presentations including prolonged bleeding from the umbilical cord stump, defective wound healing, recurrent miscarriages, or life-threatening intracranial hemorrhage. Clinical Description: A male baby was born at term gestation to a fourth gravida mother with a history of two abortions in the past. He was born out of a third-degree consanguineous marriage, with smooth perinatal transition, but developed multiple episodes of seizures associated with poor feeding and lethargy after 24 h of life. Management: On evaluation, septic screen, metabolic screen (serum electrolytes, calcium, and blood sugar), and coagulation assays were normal. Ultrasonogram revealed a hyperechoic lesion restricted to the left cerebral hemisphere, suggestive of an intraparenchymal hemorrhage. Magnetic resonance imaging brain showed left intraparenchymal hemorrhage with significant mass effect and midline shift. In view of intracranial bleed with normal coagulation assay and other causes being ruled out, factor XIII clot solubility assay was sent and found to have undetectable levels. Factor XIII levels of the mother were also found low (5.5%) though the levels in the father were normal. The baby was managed conservatively with supportive measures in the form of anticonvulsant and anti-edema measures. He recovered successfully and is under close follow-up. Conclusion: A high index of suspicion of factor XIII deficiency should be kept in any neonate presenting with intraparenchymal hemorrhage and recurrent abortions in the mother. This case is being reported to highlight factor XIII deficiency in recurrent pregnancy loss and neonatal intracranial bleeding. Prenatal screening for factor XIII deficiency in these circumstances will help in effective management of future pregnancies.

Modafinil exerts anticonvulsive effects against lithium-pilocarpine-induced status epilepticus in rats: A role for tumor necrosis factor-α and nitric oxide signaling

BackgroundStatus epilepticus (SE) is a continuous episode of seizures which leads to hippocampal neurodegeneration, severe systemic inflammation, and extreme damage to the brain. Modafinil, a psychostimulant and wake-promoting agent, has exerted neuroprotective and anti-inflammatory effects in previous preclinical studies. The aim of this study was to assess effects of modafinil on the lithium-pilocarpine-induced SE rat model and to explore possible involvement of tumor necrosis factor-α (TNF-α) and nitric oxide (NO) pathways in this regard. MethodsStatus epilepticus was provoked by injection of lithium chloride (127 mg/kg, intraperitoneally [i.p]) and pilocarpine (60 mg/kg, i.p.) in rats. Animals received different modafinil doses (50, 75, 100, and 150 mg/kg, i.p.) and SE scores were documented over 3 hours of duration. Moreover, the role of the nitrergic pathway in the effects of modafinil was evaluated by injection of the non-selective NO synthase (NOS) inhibitor L-NG-Nitro arginine methyl ester (L-NAME, 10 mg/kg, i.p.), the selective neuronal NOS inhibitor 7-nitroindazole (30 mg/kg, i.p.), and the selective inducible NOS inhibitor aminoguanidine (100 mg/kg, i.p.) 15 min before saline/vehicle or modafinil. The ELISA method was used to quantify TNF-α and NO metabolite levels in the isolated hippocampus. ResultsModafinil at 100 mg/kg significantly decreased SE scores (P < 0.01). Pre-treatment with L-NAME, 7-nitroindazole, and aminoguanidine significantly reversed the anticonvulsive effects of modafinil. Status epilepticus-induced animals showed significantly higher NO metabolite and TNF-α levels in their hippocampal tissues, an effect that was reversed by modafinil (100 mg/kg, i.p.) treatment. Administration of NOS inhibitors resulted in excessive NO level reduction but an escalation of TNF-α level in modafinil-treated SE-animals. ConclusionOur study revealed anticonvulsive effects of modafinil in the lithium-pilocarpine-induced SE rat model via possible involvement of TNF-α and nitrergic pathways.

First Episode of Unprovoked Seizure- Clinical Profile, Etiological Evaluation and Outcome Study On Follow Up

Aim and objective: To study the clinical profile, evaluation for etiological diagnosis and outcome on follow up at 3 and 6 months among patients above 14 years of age who presented with first episode of unprovoked seizure.

Random Neural Network Based Epileptic Seizure Episode Detection Exploiting Electroencephalogram Signals.

Epileptic seizures are caused by abnormal electrical activity in the brain that manifests itself in a variety of ways, including confusion and loss of awareness. Correct identification of epileptic seizures is critical in the treatment and management of patients with epileptic disorders. One in four patients present resistance against seizures episodes and are in dire need of detecting these critical events through continuous treatment in order to manage the specific disease. Epileptic seizures can be identified by reliably and accurately monitoring the patients’ neuro and muscle activities, cardiac activity, and oxygen saturation level using state-of-the-art sensing techniques including electroencephalograms (EEGs), electromyography (EMG), electrocardiograms (ECGs), and motion or audio/video recording that focuses on the human head and body. EEG analysis provides a prominent solution to distinguish between the signals associated with epileptic episodes and normal signals; therefore, this work aims to leverage on the latest EEG dataset using cutting-edge deep learning algorithms such as random neural network (RNN), convolutional neural network (CNN), extremely random tree (ERT), and residual neural network (ResNet) to classify multiple variants of epileptic seizures from non-seizures. The results obtained highlighted that RNN outperformed all other algorithms used and provided an overall accuracy of 97%, which was slightly improved after cross validation.

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review

BackgroundPropionic acidemia (PA) is a rare autosomal recessive disorder of metabolism caused by mutations in the PCCA or PCCB gene, leading to propionyl CoA carboxylase (PCC) enzyme deficiencies. Most PA patients present variable clinical phenotypes and severity in the neonatal or infant period, with only a few developing symptoms after infancy. This report describes a PA patient with an adult-onset phenotype and a novel compound heterozygous mutation in the PCCB gene. To further explore the genotype–phenotype correlations in late-onset PA, we performed a literature review focusing on and summarizing 11 patients with PCC gene mutations who had the first onset and/or the definite diagnosis after infancy.Case presentationA 21-year-old PA patient presented with weakness of four limbs, gait abnormalities, two episodes of seizures, mental and behavior disorders after severe vomiting. Magnetic Resonance Imaging (MRI) demonstrated sustained bilateral caudate head and putamen symmetrical hyperintensity. Biochemical investigations revealed plasma amino and urine values correlating with a PA profile. Genetic analysis confirmed novel compound heterozygous variants in PCCB, with a newly-found pathogenic mutation (c.467T>C) and the c.1316A>G mutation associated with pathogenicity.ConclusionWe identified a novel compound heterozygous mutation in the PCCB gene causing late-onset PA. Patients carrying mutations in the PCCB gene tend to develop late-onset PA and present neuropsychiatric symptoms and/or signs. Further molecular biological research is needed to explore the genotype–phenotype correlations of PA.

Analysis of Electrocorticography in Epileptic Patients With Responsive Neurostimulation Undergoing Scalp Electroencephalography Monitoring.

To describe the relationship of electrocorticography events detected by a brain-responsive neurostimulation system (RNS) and their association with ictal and interictal activity detected on simultaneous scalp EEG. We retrospectively identified patients with drug-resistant epilepsy implanted with RNS who subsequently underwent long-term scalp EEG monitoring. RNS detections were correlated to simultaneous activity recorded on scalp EEG to determine the characteristics of electrocorticography-stored long episodes associated with seizures or other findings on scalp EEG. Eleven patients were included with an average of 3.6 days of monitoring. Most RNS detections were of very brief duration (<10 seconds, 92.9%) and received one stimulation therapy (80.8%). A high proportion of long episodes (67.1%) were not identified as electrographic seizures on scalp EEG. Of those ictal-appearing (71.2%) long episodes, 68.2% had seizure correlates. Long episodes associated with seizures on scalp EEG had a longer median duration compared with those without (39.7 vs. 16.8 seconds, P < 0.002) and had broader spread pattern and were of higher amplitude on electrocorticography. Brief potentially ictal rhythmic discharges were the most common EEG findings associated with long episodes that did not have scalp EEG seizure correlates (100% for ictal- and 50% for non-ictal-appearing long episodes). Longer, broader spread and higher amplitude intracranial RNS detections are more likely to manifest as electrographic seizures on scalp EEG. Brief potentially ictal rhythmic discharges may serve as a scalp EEG biomarker of ictal intracranial episodes that are detected as long episodes by the RNS but not identified as electrographic seizures on scalp EEG.