Search

A 5-year-old boy with the history of intractable seizure for the past 2 years was transferred to the emergency room for cardiopulmonary resuscitation because of the prolonged seizure and profound cyanosis. He was intubated and resuscitated by cardioversion for a bizarre shape ventricular tachycardia (VT). After noxious stimulation, he showed multiple polymorphic ventricular premature beats that were followed by a bidirectional VT in favor of catecholaminergic polymorphic VT. The genetic assessment was positive for CASQ2 mutation. In the follow–up, the arrhythmia was controlled by nadolol, however with a prominent neurological sequela.

Children with refractory epilepsy (RE) are associated with increased mortality rate, nonfatal injuries, disability, and diminished quality of life. Biomarkers for the early prediction of RE is still an unmet need. Eighteen children with RE and six age-matched unrelated controls were included in this study. Plasma samples were prefractionated by the optimized thermal treatment before proteomic analysis using 2DE-LC-MS/MS. Bioinformatic analysis was carried out using STRING protein network. Immunoassay of unprocessed plasma was applied to confirm changes of proteins of interest. P -value < 0.05 was considered statistically significant. Proteomic analysis (n = 6 each group) revealed nine differentially expressed proteins, i.e., haptoglobin, S100A9, serpin B1, apolipoprotein A-I, apolipoprotein A-IV, apolipoprotein C-II, alpha-1-acid glycoprotein 1 and 2, and transthyretin. Western immunoblotting confirmed haptoglobin upregulation in the RE group. STRING protein network predicted the inflammatory cytokines, i.e., interferon gamma (IFN-γ), interleukin-1 beta (IL-1β) and tumor necrosis factor alpha (TNF-α), play roles in pathophysiology in RE patients. Cytokine immunoassay (n = 24, 18 RE vs. 6 controls) exhibited plasma IFN-γ was upregulated in RE patients as compared to the healthy individuals (median [IQR]; 2.9 [2.9, 4.9] vs. 1.32 [0.8, 1.5] pg/mL, p = 0.0013), and plasma IL-1β was significantly downregulated in patients (1.0 [0.2, 1.9] vs. 4.5 [1.9, 11.0] pg/mL, p = 0.01). TNF-α had no difference between groups. The results suggest that haptoglobin may be associated with oxidative brain damage, while IFN-γ and IL-1β may be involved with neuroinflammation. Alterations in plasma haptoglobin, IFN-γ, and IL-1β were associated with RE patients. Future studies using a combination of these candidate biomarkers may help predict the intractability of epilepsy in pediatric populations. [ABSTRACT FROM AUTHOR]

Ganglioglioma is a benign slow-growing neoplasm that most frequently occurs at the supratentorial region. Nevertheless, there are occasional reports of ganglioglioma occurring in the brainstem and spinal cord. Here we report a rare case of the craniocervical ganglioglioma. A 3.5-year-old male, presented with severe progressive quadriparesis, gait disturbance, and sphincter deficit. Physical examination demonstrated the quadriparesis, associated with positive Hoffman, Babinski, and clonus signs, and increased respond of deep tendon reflexes. Magnetic resonance imaging (MRI) demonstrated an ill-defined mass within medulla and upper cervical spinal cord, which was hypo to iso signal on T1, heterogeneous iso to hypersignal on T2 and demonstrated marked bright enhancement on T1 with gadolinium (Gad) injection. On surgery, the mass had a soft texture, ill-defined border, and grey to brown appearance. According to the frozen section report, and due to the absence of the tumour-neural parenchymal interference, only decompression of the tumour and expansile duraplasty were performed. The histopathology revealed ganglioglioma. On last follow-up 14 months after surgery, the patient was asymptomatic and neurological status was improved. The craniocervical MRI demonstrated the tumour that did not grow. Although it is rare, the ganglioglioma should be in the differentiated diagnoses of tumours with compatible clinical and radiologic features even in the unusual locations, especially in the pediatric and young patients. Safety surgical resection should be considered in these patients, whenever possible. In the case of partial resection, that is common in the tumours located within functionally critical structures, long close follow-up rather than radiation therapy is required.

Highlights • The most etiology of infant epilepsy under 1 year of age is structural. • High percentages of intractable seizure and developmental delay in the subject infants. • Status epilepticus and developmental delay predicted intractable seizure. • Abnormal neurological examination and neuroimaging predicted developmental delay. Abstract Purpose Explore etiology, clinical course and outcome of infant epilepsy in Bhumibol Adulyadej Hospital. Method Retrospective and prospective descriptive analysis of infants 1 month to 1 year diagnosed with epilepsy between January 1, 2012, and April 30, 2018. Results Total 57 infants. Average age of seizure onset was 4.7 months. Follow-up period averaged 34.2 months. Prenatal risk factors were found in 28.1 percent (16/57). Of these, 50 percent (8/16) had seizure in neonatal period. An additional 6 infants without any prenatal risk factor had seizure in the neonatal period, bringing the total newborn with seizure to 24.6 percent (14/57). Family history of seizure was positive in only 15.8 percent (9/57). Neuroimaging was done 68.4 percent (39/57) and electroencephalogram 50.9 percent (29/57). The etiology was mostly structural 38.6 percent (22/57), followed by unknown 35.1 percent (20/57), genetics 14 percent (8/57), infection 10.5 percent (6/57) and metabolic 1.8 percent (1/57). Status epilepticus was found 21.1 percent of the times (12/57). Antiepileptic drugs were discontinued 19.3 percent (11/57). Intractable seizure was found 29.8 percent (17/57) and developmental delay 56.1 percent (32/57). By multivariate logistic regression analysis, status epilepticus and developmental delay predicted intractable seizure, whereas, abnormal neurological examination and abnormal neuroimaging predicted developmental delay. Mortality rate was 3.5 percent. Conclusion The study shows that early onset of epilepsy in children under a year is similar to that found in children less than 2–3 years as found in prior studies. High percentages of intractable seizure and developmental delay were found. [ABSTRACT FROM AUTHOR]

A 5-year-old boy with the history of intractable seizure for the past 2 years was transferred to the emergency room for cardiopulmonary resuscitation because of the prolonged seizure and profound cyanosis. He was intubated and resuscitated by cardioversion for a bizarre shape ventricular tachycardia (VT). After noxious stimulation, he showed multiple polymorphic ventricular premature beats that were followed by a bidirectional VT in favor of catecholaminergic polymorphic VT. The genetic assessment was positive for CASQ2 mutation. In the follow-up, the arrhythmia was controlled by nadolol, however with a prominent neurological sequela. [ABSTRACT FROM AUTHOR]

Abstract: Background: Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early‐onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease with intractable seizure and tauopathies (MIM 617389). Methods: We report two related children from consanguineous family presented with intractable seizure, profound developmental delay, failure to thrive, acquired microcephaly, and hypotonia. The brain MRI is normal and EEG showed hypsarrhythmia. Result: The diagnosis was achieved via whole‐genome sequencing which showed homozygous mutation in SYNJ1 (c.709C>T, p.Gln237*). Conclusion: A clinical pattern of neonatal‐onset intractable seizure, profound developmental delay, muscular hypotonia, hypsarrhythmia, and no focal abnormality of brain MRI should prompt initiation of molecular genetic analysis of SYNJ1. Establishment of the diagnosis permits genetic counseling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis. [ABSTRACT FROM AUTHOR]

Linear scleroderma is a form of localized scleroderma characterized by sclerotic lesions distributed in a linear, band-like pattern. The “en coup de sabre” subtype of linear scleroderma is more often associated with systemic morbidity, including ocular, oral, and neurological abnormalities. Here, we report one patient with typical linear scleroderma “en coup de sabre” (LSCS). Initially, he presented with refractory partial seizures before the characteristic skins lesion on his head developed. This was a rare case with obvious brain parenchyma involvement. We did not prescribe medication but performed serial brain magnetic resonance imaging follow-up for the intraparenchymal lesion. The atrophic changes of the skin, face and brain remained the same, and his seizures had not worsened at the most recent follow-up. Parry-Romberg syndrome, a very similar condition, should be differentiated from LSCS.

Background: Approximately 5-10% of epileptic patients do not respond to antiepileptic drugs. Adenosine has an inhibitory effect on the nervous system and its metabolism is prevented as a side effect of allopurinol, a xanthine oxidase inhibitor. The current study evaluates the efficacy of allopurinol in intractable epilepsy.Methods: In this double-blind case-control clinical trial, of the 38 epileptics with intractable seizures, 18 received 300 mg allopurinol daily and 20 received a placebo as adjuvant treatment to their previous antiepileptic drugs. The patients were first examined two weeks after initiation of the treatment and then monthly for a total of six months, during which they were evaluated for seizure control and possible side effects.Result: Of the 38 participants, 32 patients completed the study. There were significant differences between the two groups in terms of reduction in the total number of seizures over the entire six-month trial. A seizure reduction of 30% observed in 66% of the patients, 50% in 55%, and 60% in 44% of the cases in the allopurinol group was achieved after two months and persisted throughout the study. Furthermore, a significant difference in seizure duration was found between the two groups in month four of the trial. In the allopurinol group, two patients had transient rashes, two patients had mild nausea, and two experienced dizziness; however, only one patient discontinued the drug due to dizziness. In the placebo group, one patient had rash and one had nausea. In addition, no significant hematological or hepatic changes were found during the trial in either group.Conclusions: The results suggest that allopurinol is a safe and effective adjuvant agent in refractory epilepsy. Based on this study, we suggest that purine metabolic pathways and the specific use of allopurinol should be further investigated for the treatment of refractory epilepsy.

We describe an extremely rare case of double pathology arising in an infant girl presenting with a history of intractable seizures, delayed milestones and enlarging head. The pathology included desmoplastic infantile ganglioglioma (DIG) and extensive focal cortical dysplasia in the overlying cortex. While tumors such as ganglioglioma have been commonly described to occur as concomitant pathology with cortical dysplasia, DIG in such an association has not been described in the literature. As DIG are voluminous supratentorial tumors, awareness about such an association is pertinent for correct diagnosis. [ABSTRACT FROM AUTHOR]

Background : Intractable neonatal seizure are common acute medical emergency in neonatal period than at any other period of life. In our daily practice treatment of intractable neonatal seizures still relies primarily on phenytoin, despite an estimated efficacy of less than 50% and concern over neurodegenerative side effects. Several studies indicate value for lidocaine as an anticonvulsant in the treatment of intractable neonatal seizure. Aim : The objective of this study was to compare the efficacy of Phenytoin with Lidocaine in the management of intractable seizure in neonate. Methodology : A Randomized control trial was carried out in the Department of Neonatology, Dhaka Medical College Hospital (DMCH), Dhaka between July 2013 to June 2014. A total of 78 newborn with neonatal seizure. admitted in SCABU & not responding to total doses of Inj. Phenobarbital (40 mg/kg) were included in the study and were randomly assigned to either Inj. Lidocaine (Group A=39) or to Inj. Phenytoin (Group B=39). The main outcome variables were control of seizure, adverse effects, time of cessation of seizure. Results : The study demonstrated that intractable seizure of 24 neonates (75%) were controlled with Inj. Lidocaine and intractable seizure of 20 neonates (57.1%) were controlled with Inj. Phenytoin(P-Value 0.124). Adverse effects of drugs such as apnea, bradycardia, drowsiness and lethargy were observed in 4 patients (12.5%) of Lidocaine group (Group A) and 10 (28.6%) of Phenytoin group (Group=B) (P-Value 0.106). Time required for cessation of intractable seizures were nearly similar in both groups. In group A 75% of patients responded within 24 hours and in group B 71% patients responded in same duration(P-Value 0.931). Length of hospital stay was less in phenytoin group compare to lidocaine group(P-Value 0.352). None of the following results were statistically significant. Conclusion : The study concluded that Inj. Lidocaine is similar to Inj. Phenytoin in controlling intractable neonatal seizure. [ABSTRACT FROM AUTHOR]

Objective: To discuss the clinical characteristics, radiological features, surgical treatment and prognosis of sporadic meningioangiomatosis (MA). Methods: We retrospectively analyzed the medical records of ten histopathologically confirmed MA patients who were treated in the Department of Neurosurgery of Huashan hospital from 2002 to 2011. All of the patients presented with symptomatic seizure attacks before craniotomy surgeries. Magnetic resonance imaging (MRI) and/or computed tomography (CT) were the main radiological examination for preoperative diagnosis of all cases. Results: All patients underwent craniotomy surgeries with gross total resections (GTRs) of the MA lesions. Postoperative follow-ups range from 8 to 108 months, in average 42.7 months, median 40.5 months. No radiological recurrence can be found in any case. Eight patients (80.0%) have achieved total symptomatic remission after surgeries (one of them underwent delayed remission), while two (20.0%) are still suffering from seizure attacks infrequently under several antiepileptic drugs (AEDs). Conclusion: Although MA cases are quite rare and usually misdiagnosed presurgically, a correct preoperative diagnosis, at least a differential diagnosis, can be rationally achieved via a triad of patients' ages, symptomatic seizure attacks and radiological features (both CT and MR). MA is curable and the prognosis is excellent since most patients became free of seizure and recurrence after surgical treatments. [ABSTRACT FROM AUTHOR]

Linear scleroderma is a form of localized scleroderma characterized by sclerotic lesions distributed in a linear, band-like pattern. The “en coup de sabre” subtype of linear scleroderma is more often associated with systemic morbidity, including ocular, oral, and neurological abnormalities. Here, we report one patient with typical linear scleroderma “en coup de sabre” (LSCS). Initially, he presented with refractory partial seizures before the characteristic skins lesion on his head developed. This was a rare case with obvious brain parenchyma involvement. We did not prescribe medication but performed serial brain magnetic resonance imaging follow-up for the intraparenchymal lesion. The atrophic changes of the skin, face and brain remained the same, and his seizures had not worsened at the most recent follow-up. Parry-Romberg syndrome, a very similar condition, should be differentiated from LSCS. [Copyright &y& Elsevier]

Summary. Objective: With the aim to better evaluate the role of the insula in seizures and the therapeutic implications, we analyzed the rate of insular low-grade gliomas (LGG) presenting with medically refractory epilepsy, detailed their ictal symptoms, and described the epileptological results following their surgical resection. Methods: Eleven patients (8 men, 3 women, mean age: 35 years) harboring an insular LGG generating intractable seizures, underwent tumor removal and perilesional opercular cortex resection (lesionectomy “plus”) using intraoperative functional electrical mapping, combined with ultrasonography and/or neuronavigation. Results: Despite the occurrence of five postoperative deficits, the patients recovered in all cases. The epileptological results showed improvement in all cases: 9 Engel's Class I (82%), 1 Class II and 1 Class III. Ten lesionectomies were total [3] or subtotal [7], while one resection was partial (the patient in Engel's III). Conclusion: The high rate of pharmacologically intractable seizures associated with insular LGG, and the favorable epilepsy outcome following surgical resection of these tumors seemingly indicate that the insular cortex itself may induce chronic seizures when injured. These results suggest, taking account of the technical surgical progress allowing now to minimize the morbidity after surgery in this region, that there is another indication than the sole oncological reason for surgery in patients with diffuse insular glioma – even if total tumor removal is not systematically possible. [ABSTRACT FROM AUTHOR]

A dysembryoplastic neuroepithelial tumor (DNET) is a rare, benign intracranial neoplasm. It was first described by Daumas-Duport in 1988.A 22-year-old girl had a 2-month history of intractable complex partial seizures. Magnetic resonance imaging showed a neoplasm located in the right temporal lobe. It was confirmed to be a dysembryoplastic neuroepithelial tumor by histopathologic diagnosis after surgery. The patient was followed up for 1 year; the girl was leading a normal life with no epilepsia.To the best of our knowledge, DNET is a rare, benign intracranial neoplasm. With early and complete excision, we can get a better control of seizures, avoiding neuropsychological changes. [ABSTRACT FROM AUTHOR]

Background and Purpose: There are only limited studies on perampanel (PER), one of the latest antiepileptic drug. This study aimed to evaluate the long-term efficacy and tolerability of perampanel as an add-on therapy in patients with intractable focal epilepsy., Methods: The medical records of 97 patients (age, 12-30 years) were retrospectively reviewed and analyzed. The patients had been diagnosed with focal epilepsy, treated with PER, and regularly followed up over 12 months., Results: All patients had uncontrolled seizures despite treatment with two or more antiepileptic drugs. The mean age of seizure onset was 5.2 years (range, 0-17.0). PER was first prescribed at an average age of 15.7 years (range, 12.0-25.3), and mean follow-up duration after PER initiation was 15.9 months (range, 12-20). The responder rate was 41.7%, with over 75% seizure reduction obtained in 11 cases (15.3%), including three seizure-free cases (4.2%). The retention rates at 3, 6, 12, and 18 months of follow-up were 82.5% (80/97), 72.1% (70/97), 60.8% (59/97), and 37.5% (6/16), respectively. Forty-four patients (44/97, 45.4%) discontinued PER, because of treatment-related adverse events in 20 (20.6%) and no efficacy in 24 (24.7%). Treatment-related adverse events were reported by 52 patients (53.6%). The most common adverse event was somnolence or lethargy, reported by 17 patients (17/97, 23%), followed by dizziness (15/97, 20%) and psychological problems such as aggressiveness or irritability (15/97, 20%). Thirty-three patients (33/52, 63.4%) showed their first adverse symptom for 2 or 4 mg/day of PER., Conclusions: PER would be an effective therapeutic option for patients with intractable focal epilepsy. However, careful monitoring of adverse events is essential from treatment initiation, with particular attention to psychological problems in adolescents and young adults., Competing Interests: Conflicts of Interest All authors have no conflicts of interest to disclose.

Ganglioglioma is a benign slow-growing neoplasm that most frequently occurs at the supratentorial region. Nevertheless, there are occasional reports of ganglioglioma occurring in the brainstem and spinal cord. Here we report a rare case of the craniocervical ganglioglioma. A 3.5-year-old male, presented with severe progressive quadriparesis, gait disturbance, and sphincter deficit. Physical examination demonstrated the quadriparesis, associated with positive Hoffman, Babinski, and clonus signs, and increased respond of deep tendon reflexes. Magnetic resonance imaging (MRI) demonstrated an ill-defined mass within medulla and upper cervical spinal cord, which was hypo to iso signal on T1, heterogeneous iso to hypersignal on T2 and demonstrated marked bright enhancement on T1 with gadolinium (Gad) injection. On surgery, the mass had a soft texture, ill-defined border, and grey to brown appearance. According to the frozen section report, and due to the absence of the tumour-neural parenchymal interference, only decompression of the tumour and expansile duraplasty were performed. The histopathology revealed ganglioglioma. On last follow-up 14 months after surgery, the patient was asymptomatic and neurological status was improved. The craniocervical MRI demonstrated the tumour that did not grow. Although it is rare, the ganglioglioma should be in the differentiated diagnoses of tumours with compatible clinical and radiologic features even in the unusual locations, especially in the pediatric and young patients. Safety surgical resection should be considered in these patients, whenever possible. In the case of partial resection, that is common in the tumours located within functionally critical structures, long close follow-up rather than radiation therapy is required.

Objective: To discuss the clinical characteristics, radiological features, surgical treatment and prognosis of sporadic meningioangiomatosis (MA)., Methods: We retrospectively analyzed the medical records of ten histopathologically confirmed MA patients who were treated in the Department of Neurosurgery of Huashan hospital from 2002 to 2011. All of the patients presented with symptomatic seizure attacks before craniotomy surgeries. Magnetic resonance imaging (MRI) and/or computed tomography (CT) were the main radiological examination for preoperative diagnosis of all cases., Results: All patients underwent craniotomy surgeries with gross total resections (GTRs) of the MA lesions. Postoperative follow-ups range from 8 to 108 months, in average 42.7 months, median 40.5 months. No radiological recurrence can be found in any case. Eight patients (80.0%) have achieved total symptomatic remission after surgeries (one of them underwent delayed remission), while two (20.0%) are still suffering from seizure attacks infrequently under several antiepileptic drugs (AEDs)., Conclusion: Although MA cases are quite rare and usually misdiagnosed presurgically, a correct preoperative diagnosis, at least a differential diagnosis, can be rationally achieved via a triad of patients' ages, symptomatic seizure attacks and radiological features (both CT and MR). MA is curable and the prognosis is excellent since most patients became free of seizure and recurrence after surgical treatments., (Copyright © 2013 Elsevier B.V. All rights reserved.)