The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

BACKGROUND: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. METHODS: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131). RESULTS: An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%. CONCLUSIONS: The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%).

Effect of nusinersen treatment on quality of life and motor function in adult patients with spinal muscular atrophy.

The aim of this study was to assess the effect of 4 loading doses of nusinersen on motor function and quality of life (QoL) in adult patients with spinal muscular atrophy (SMA). Twenty-one adult patients with genetically confirmed SMA who were treated with 4 loading doses of nusinersen were included in this study. All patients were evaluated with the Medical Research Council (MRC) scale, the Hammersmith Functional Motor Scale Expanded (HFMSE), and the Short Form Survey-36 (SF-36) at baseline (V1) and before the first nusinersen maintenance treatment, which was at the 15th month of treatment (V2). The SF-36 score was compared between the patients and 35 age-matched healthy controls. Of the twenty-one patients with a median age of 36 years, 10 were nonambulatory, and 11 were ambulatory. The physical component score and the mental component score of the SF-36 were significantly lower in the SMA patient group at baseline than in the healthy group. The median HFMSE scores significantly improved at V2 in both ambulatory and nonambulatory SMA patients (p < 0.05). The median MRC score significantly increased at V2 in the ambulatory SMA patient group (p = 0.04) but not in the nonambulatory SMA patient group (p = 0.19). There was a significant improvement in physical QoL in all the SMA patients at V2 (p = 0.02), but there was no significant improvement in mental QoL (p = 0.15). The loading nusinersen treatment significantly improved motor function scores, muscle strength, and physical QoL.

Adaptability of Pediatric Residents for the International League Against Epilepsy-2017 Seizure Classification with a Modular Education Program.

OBJECTIVE: The aim of this study was to evaluate the adaptability of pediatric residents to the current seizure classification of the International League Against Epilepsy-2017 (ILAE-2017) using a modular education program (MEP). MATERIALS AND METHODS: The MEP design consisted of 8 modules, including 5 modules for the current version of the ILAE-2017 seizure classification and 3 modules for the older ILAE-1981 version. The MEP was implemented with a group of pediatric residents, and it comprised 50 illustrative pediatric seizure videos along with an instruction manual kit that included a seizure determinator. Following a 3-month follow-up period, a posttest was conducted using 58 new videos in the MEP. RESULTS: The overall success rates of the participants were similar both ILAE-2017 (41%) and ILAE-1981 (38.5%) seizure classifications in the post-MEP test. Regarding the ILAE-2017 mod- ules, the participants demonstrated a higher proficiency in classifying focal nonmotor seizures (56.3%) compared to focal motor seizures (34.9%). However, when it came to generalized seizures, the participants had significantly lower accuracy rates for generalized nonmotor seizures (26%) compared to generalized motor seizures (46%) with the ILAE-2017 classifica- tion. The seizure types that were most commonly misclassified, with an error rate exceeding 50%, were automatisms and myoclonic seizures within the focal seizure modules and atypical absences in generalized seizure modules of ILAE-2017. CONCLUSION: The single-day MEP yielded modest results, with a success rate of 41% in terms of the initial adaptability of pediatric residents to the ILAE-2017 seizure classification. However, to ensure successful implementation of the ILAE-2017 classification in clinical practice, additional booster applications of the MEP are required.

What are the predominant predictors of seizure relapse following discontinuation of anti-seizure medication in epileptic children?

OBJECTIVE: The aim of the study was to identify the predominant predictors of seizure relapse following discontinuation of ASM in epileptic children. METHODS: The study cohort consisted of 403 epileptic children who had a withdrawal process of ASM (monotherapy: 344; dual therapy or polytherapy: 59) after at least a 2-year seizure-free period. Patients were categorized if they had a well-defined epileptic syndrome. Epileptic children with ongoing ketogenic diet, vagal nerve stimulation, or surgery were excluded from the cohort due to the additional withdrawal process related to other therapy modalities. RESULTS: The cohort's seizure relapse rate was 12.7% (51/403). The highest rates of seizure relapse were defined for genetic etiology at 25% and structural etiology at 14.9%. An epilepsy syndrome was defined in 183 of 403 children (45.4%). There was no difference in the seizure relapse rate between the subgroups of well-defined epileptic syndromes; 13.8% for self-limited focal epileptic syndromes, 11.7% for developmental and epileptic encephalopathies, and 7.1% for generalized epileptic syndromes. Five predictors were defined as the most powerful predictors of seizure relapse in univariate analysis: age at epilepsy diagnosis >2 years (hazard ratio [HR]: 1.480; 95% confidence interval [CI]: 1.134-1.933), defined etiology (HR: 1.304; 95% CI: 1.003-1.696), focal seizure (HR: 1.499; 95% CI: 1.209-1.859), ≤3 months duration of the withdrawal process (HR: 1.654; 95% CI: 1.322-2.070), and a history of neonatal encephalopathy with or without seizures (HR: 3.140; 95% CI: 2.393-4.122). In multivariate analysis, the main predictor of seizure relapse was a history of neonatal encephalopathy with or without seizures (HR: 2.823; 95% CI: 2.067-3.854). SIGNIFICANCE: The duration of seizure freedom before discontinuation of ASM was not a predominant risk factor for seizure relapse: 2-3 years versus >3 years. The predictive values of five predictors of seizure relapse rate should be evaluated for patients with different epilepsy subgroups.

Effects of the combined treatment of bilateral subthalamic nucleus stimulation and levodopa on balance and mobility in Parkinson's disease.

Background and purpose:

Background and purpose – To evaluate the efficacy of the combined therapy of bilateral subthalamic nucleus deep brain stimulation (STN-DBS) and dopaminergic medication on balance and mobility in patients with Parkinson’s disease (PD).

Eighteen PD patients under bilateral STN-DBS stimulation therapy, were enrolled in this study. Unified Parkinson’s Disease Rating Scale (UPDRS) was applied to assess the patients’ clinical characteristics. UPDRS part III postural instability/gait disorder (PIGD) scores (sum of items 3.9-3.13) and UPDRS part III postural stability item (item 3.12) were calculated separately. Patients were evaluated with Berg Balance Scale (BBS), Mini-Balance Evaluation Systems Test (Mini-BESTest), Timed Up and Go (TUG) test, dual-task TUG test, and Forward Functional Reach (FFR) Test in two conditions: Stimulation-ON (stim-ON)/Medication-ON (Med-ON) and Stimulation-OFF (Stim-OFF)/Med-ON.

The mean age of patients was 59.5±9.1 (R: 41-71) years. The UPDRS part III total score and PIGD subsection score significantly improved after stimulation (p=0.001), but the postural instability item of the UPDRS part III did not change significantly (p=0.1). There were no significant differences between the Stim-ON/Med-ON and Stim-OFF/Med-ON conditions, in terms of total Mini-BESTest total scores, total BBS score, FFR test score (p>0.05 for all of them). TUG test was significantly improved in the Stim-ON/Med-ON condition compared to Stim-OFF/Med-ON condition (p=0.03), but DT-TUG test did not change (p=0.1). 

Combined bilateral STN-DBS and dopaminergic medication therapy had an additional improvement on motor symptoms and mobility performance, but not on balance and dual-task mobility. 

Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis.

OBJECTIVE: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis. MATERIALS AND METHODS: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, elect roenc ephal ograp hy features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities. Three scoring models were applied: the Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy for predicting autoimmune-related epilepsy in the whole cohort and the anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score for overall outcome in patients with anti-N-methyl-d-aspartate receptor encephalitis. RESULTS: The initial clinical spectrum of the disease was similar in the seronegative and seropositive groups. Almost half of the patients (48%) recovered without any complications with first-line immunotherapy. The patients with movement disorders in the acute phase of the disease needed more likely second-line immunotherapy (P = .039). The presence of status epilepticus at admission was significantly associated with adverse outcomes and the development of autoimmune-related epilepsy (P = .019). Autoimmune-related epilepsy was defined in an equal proportion of patients (91.5%) with 2 immune epilepsy scores (Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy). The N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score and the modified Rankin score assessed for the first-year prognosis were strongly correlated among the patients with anti-N-methyl-d-aspartate receptor encephalitis (P = .03, Spearmen's rho = 0.751). CONCLUSIONS: The presence of status epilepticus was the most important prognostic factor in the patients with the adverse outcome. The studied scoring models (Anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status, Antibody Prevalence in Epilepsy, and Response to Immunotherapy in Epilepsy) have also been proven to be applicable to the pediatric age group for predicting overall outcome and autoimmune-related epilepsy.

Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.

Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.

Melatonin Versus Chloral Hydrate for Sleep Electroencephalography Recording in Children: A Comparative Study Using Bispectral Index Monitoring Scores and Electroencephalographic Sleep Stages.

PURPOSE: To compare the effects of chloral hydrate and melatonin on sleep EEG recordings in children by using standard EEG sleep stages and the bispectral index scores (BIS). METHODS: A total of 86 children were randomly assigned to two groups: (1) melatonin group (n = 43) and (2) chloral hydrate group (n = 43). BIS monitoring scores and sleep EEGs were recorded simultaneously. The effect of two drugs on sleep EEG recording was evaluated with sleep stages of EEG and BIS. RESULTS: There was no statistically significant difference between the groups with regard to time to sleep onset and the need for a second drug ( P = 0.432; P = 1.000). Eight patients (18.6%) in chloral hydrate group reported side effects while there were no reported side effects in the melatonin group ( P = 0.006). Mean BIS values during EEG recordings were similar in both groups (59.72 ± 18.69 minutes and 66.17 ± 18.44 minutes, respectively, P = 1.000). The average time to achieve N2 sleep was 32.38 minutes in the chloral hydrate group and 43.25 minutes in the melatonin group ( P < 0.001). Both "time spent in wakefulness" and "N1 sleep" were found to be significantly higher in the melatonin group ( P < 0.001 and P = 0.005). BIS scores higher than 75 were found to be suggestive for wakefulness; 75 to 66 for N1, 65 to 46 for N2, and values lower than 46 were found to be indicative for N3 sleep with a good strength of agreement in weighted Kappa analysis (95% confidence interval; weighted Kappa = 0.67). CONCLUSIONS: Melatonin is reliable and at least as effective as chloral hydrate for sleep EEG acquisition in children.

Cerebral sinovenous thrombosis in children: A single-center experience.

OBJECTIVE: The study aimed to evaluate the patients with a diagnosis of cerebral sinovenous thrombosis in terms of clinical findings, etiology and underlying risk factors, imaging findings, treatment, and prognosis in the long term. MATERIALS AND METHODS: Medical records of 19 patients whose ages ranged between 0 days and 17 years with clinical and radiological cerebral sinovenous thrombosis in Ege University Department of Child Neurology were retrospectively evaluated. RESULTS: Nine of nineteen cases were female (47.3%). The median age was 84 months (0-201 months). The most common complaint at the presentation was headache (n=12) and the most common physical examination finding was papilledema (n=11). In etiology, otitis/mastoiditis in three cases, iron deficiency anemia in three cases, sinusitis in two cases, catheter use in four cases, Behçet's disease in three cases were determined. The most common observed genetic factors causing thrombosis was methylenetetrahydrofolate reductase mutation. The transverse sinus (68.4%) is the sinus where thrombosis is most frequently observed. As a result of an average follow-up of 12 months (2-72 months), hemiparesis (n=3/19, 15.7%) and epilepsy (n=5/19, 26.3%) were recorded as sequelae findings, and no mortality was observed. CONCLUSION: In cases presenting with headache, evaluation of papilledema on funduscopic examination should not be skipped. Neurological imaging should be performed in the change of consciousness of poor feeding infants and children with infections in the head and neck area or underlying chronic diseases. When cerebral sinovenous thrombosis is detected, anticoagulant therapy should be started immediately.

Efficacy of levetiracetam as first-line therapy for neonatal clinical seizures and neurodevelopmental outcome at 12 months of age.

Appropriate treatment of neonatal seizures with an effective therapy is important in reducing long-term neurologic disabilities. Sixty-seven neonates, who received intravenous (IV) levetiracetam (LEV) as first-line therapy for treating seizures between 2013 and 2017 were evaluated retrospectively to investigate the efficacy of LEV and its neurodevelopmental outcome at 12 months of age. Of the 67 neonates (44 preterm and 23 term babies) evaluated for seizures, 55 (82%) had a defined etiology. EEG confirmation was obtained in 36 (57.1%) of the neonates with clinical seizures. On the 7th day of the treatment (mean seizure control time 7.4 ± 15.1 days), LEV was effective as monotherapy in 43 (64%), whereas add-on therapy was required in 24 (36%) neonates. At the 1-year follow-up, 76% of infants achieved drug-free state, nine (18%) infants remained on LEV monotherapy and three (6%) needed add-on therapy. Neurodevelopmental outcome of the infants was assessed with Ankara Development Screening Inventory and results suggested favorable neurodevelopmental outcome in 69.7% of the infants with at the end of the 1-year follow-up with LEV monotherapy. In conclusion, this retrospective cross-sectional study demonstrated that IV LEV is an effective first-line therapy for treating neonatal clinical seizures and LEV monotherapy effect was sustained during the first year follow-up.

Clinical spectrum, treatment and outcome of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease in children: a tertiary care experience.

Anti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases.

Sulthiame add-on treatment in children with epileptic encephalopathy with status epilepticus: an efficacy analysis in etiologic subgroups.

PURPOSE: Sulthiame (STM) has been recommended as an effective antiepileptic drug (AED) in children with epileptic encephalopathy with status epilepticus in sleep (ESES). The aim of this study is to evaluate the efficacy of STM add-on treatment in children with pattern of ESES with respect to the etiologic subgroup. METHODS: Twenty-nine children with ESES pattern with three different etiologic subgroups (epileptic syndromes: 14, structural/infectious: 9, unknown: 6) who were given STM as add-on treatment were included into the study. The efficacy of STM was evaluated in terms of seizure control, electroencephalography (EEG) findings, need of the new AEDs after add-on STM, and behavioral and cognitive improvement. RESULTS: The range of the follow-up duration after add-on STM treatment was between 5 and 51 months. At the end of 1 year of STM treatment, the most successful electrophysiologic improvement was identified in the well-defined epileptic syndrome group; epileptic syndrome, 71.4% (10/14); structural/infectious, 33.3% (3/9); and unknown, 0% (0/6). Patients who had complete response or persistent ESES pattern at the 3rd month were still in the same condition at the 6th and 12th months. However, the ESES pattern reappeared in 35.2% of the patients who had partial electrophysiological improvement at the 3rd month. In the epilepsy syndrome group, eight out of ten patients who had either complete or partial EEG response after 1 year of STM treatment displayed behavioral and cognitive improvement. CONCLUSION: Sulthiame might be a valid add-on treatment of ESES especially in children with epilepsy syndromes.

A Rare Case of Peripheral Nerve Hyperexcitability in Childhood: Isaacs Syndrome.

Isaacs syndrome is rare disorder with peripheral nerve hyperexcitability syndromes with acquired neuromyotonia in childhood. We present a 13-year-old girl with muscle stiffness and neuromyotonia diagnosed Isaac syndrome with spontaneous discharge potentials on motor unit in electromyography and the diagnosis supported by the presence of antinuclear antibodies. A successful treatment was obtained using low-dose carbamazepine. Cause of Isaacs syndrome is unknown, generally thought to be an autoimmune etiology with voltage-gated potassium channelopathy; it sometimes occurs as a paraneoplastic syndrome. Early use of electromyography has critical role in the differential diagnosis with certain muscle disorders and peripheral nerve hyperexcitability syndromes.

Neuropsychological outcome in cases with acute disseminated encephalomyelitis.

BACKGROUND AND OBJECTIVES: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory and demyelinating disorder of the central nervous system. There have been a few studies in recent years on the fact that these cases have neurocognitive impairment. The purpose of this study is to evaluate the neurocognitive outcome and quality of life in cases with ADEM. METHODS: Eleven cases who were on follow-up between 2008 and 2017 were included in the study, systemic, neurological and psychiatric examinations were done. All magnetic resonance images were re-evaluated. The neuropsychiatric evaluation was performed by clinical examination and psychometric scales; (1) The Pediatric Quality of Life Inventory 4.0, (2) Child Behavior Checklist, (3) Children`s Depression Inventory, (4) The Wechsler Intelligence Scale for Children-Revised and (5) Continuous Performance Test. The cases in our study underwent neuropsychiatric evaluation 3-42 months after the diagnosis of ADEM had been established. RESULTS: Nine cases (81.8%) fully recovered without neurologic deficit. One case (9.1%) had a psychiatric disorder. During follow-up, cognitive and psychiatric problems were encountered in half of the cases (54.5%). Most of the cases with basal ganglia involvement (80%) displayed attention deficit and cognitive problems. CONCLUSION: In particular, cases with basal ganglia involvement should be followed carefully in terms of attention and cognitive problems.

Comparison of the effectiveness of simple carbohydrates on hypoglycemic episodes in children and adolescents with type 1 diabetes mellitus: A randomized study in a diabetes camp.

BACKGROUND: Hypoglycemia is the most common and severe complication of insulin treatment during the management of type 1 diabetes mellitus (T1DM). Despite its importance, there is a lack of data about the efficacy and superiority of the carbohydrate sources used in hypoglycemia management in children and adolescents. OBJECTIVE: We aimed to compare the effectiveness of honey, fruit juice, and sugar cubes as simple carbohydrates used in the primary treatment of hypoglycemia in children and adolescents with T1DM, who attended a diabetes summer camp. METHODS: A prospective randomized study was performed in a 5-days-long diabetes summer camp. Three different types of simple carbohydrates; sugar cubes, honey, or fruit juice were randomly given for the treatment of hypoglycemia and the recovery results in the three groups were compared. RESULTS: About 32 patients (53.1% male, mean age 12.9 ± 1.9 years) were included and 158 mild hypoglycemic episodes were observed. Sugar cubes, honey, and fruit juice were given in 46 (29.1%), 60 (37.9%), and 52 (33%) events, respectively. We found that honey and fruit juice had similar efficiency in recovering hypoglycemia in 15 minutes with a rate of 95% and 98%, respectively. However, sugar cubes had a significantly lower impact on treatment of hypoglycemia than the others, with a recovery rate of 84.7% at 15 minutes. CONCLUSIONS: This study showed, for the first time, that honey and fruit juice were more effective in treating hypoglycemia than sugar cubes, and can be preferred in treating hypoglycemic events in children and adolescents with T1DM.

CSF levels of a set of neurotrophic factors (brain-derived neurotrophic factor, nerve growth factor) and neuropeptides (neuropeptide Y, galanin) in epileptic children.

This paper aims to investigate the possible roles of a set of neurotrophic factors (brain-derived neurotrophic factor-BDNF, nerve growth factor-NGF) and neuropeptides (neuropeptide Y-NPY, and galanin) in children with active epileptogenesis. The cerebrospinal fluid (CSF) levels of BDNF, NPY, NGF and galanin were measured with enzyme-linked immunosorbent assays in epileptic children (n = 73) and controls (n = 64). There were no significant alterations in the CSF levels of BDNF, NPY and NGF in epileptic children with active clinical seizures compared with the levels of controls. However profoundly depressed galanin levels were found in infants with epileptic encephalopathy (mean ± SD:0.63 ± 0.19 pg/ml) and significantly increased galanin levels were measured in children with drug resistant epilepsy during the period of status epilepticus (mean ± SD: 6.92 ± 1.19, pg/ml pg/ml) compared with the levels of controls. Depressed levels of galanin might reflect a defective anti-epileptogenic effect of galanin in infants with epileptic encephalopathy. On the contrary, increased CSF levels of galanin might be a result of anti-epileptogenic effects of this peptide in epileptic children with status epilepticus.

A rare cause of ischemic stroke in childhood: spontaneous long segment intracranial dissection.

Craniocervical arterial dissection is an important cause of arterial ischemic stroke in children. Recognition of dissections is of particular importance both in determining the risk of recurrence and in bringing about different treatment alternatives. We report a 10-year-old girl who presented with acute ischemic stroke due to spontaneous long segment dissection involving the parasellar internal carotid artery up to the distal M1 portion of the middle cerebral artery. Three-dimensional digital subtraction angiography with flat panel detector revealed the presence of major vessels originating from both true and false lumens and had a critical role in the treatment decision of the case.

The potential effects of anticonvulsant drugs on neuropeptides and neurotrophins in pentylenetetrazol kindled seizures in the rat.

Purpose: Neuropeptides and neurotrophic factors are thought to be involved in epileptogenesis. This study aims to investigate the potential effects of anticonvulsant drugs on neuropeptides (galanin and neuropeptide Y) and neurotrophic factors (BDNF and NGF) in pentylenetetrazol (PTZ)-kindled seizures in the rat.Methods: Forty-eight adult male Sprague-Dawley rats were included in the study. The animals were divided into 8 groups of six rats. Group 1 was defined as naïve control, and received no medication. Group 2 (PTZ + saline) was treated with sub-convulsive doses of PTZ (35 mg/kg) and saline i.p. for 14 days. For anticonvulsant treatments, Groups 3-8 were treated with 200 mg/kg levetiracetam (PTZ + LEV), 1 mg/kg midazolam (PTZ + MDZ), 80 mg/kg phenytoin (PTZ + PHT), 80 mg/kg topiramate (PTZ + TPR), 40 mg/kg lamotrigine (PTZ + LMT) and 50 mg/kg sodium valproate (PTZ + SV), respectively. All anticonvulsant drugs were injected 30 min prior to PTZ injection throughout 14 days. Following treatment period, behavioral, biochemical and immunohistochemical studies were performed.Results: PTZ + saline group revealed significantly decreased galanin, NPY, BDNF and NGF levels compared to control. PTZ + MDZ group had significantly increased galanin, BDNF and NGF levels compared to saline group. Also, PTZ + LEV group showed increased BDNF levels. PTZ + saline group revealed significantly lower neuron count and higher GFAP (+) cells in hippocampal CA1-CA3 regions. All anticonvulsants significantly reduced hippocampal astrogliosis whereas only midazolam, levetiracetam, sodium valproate and lamotrigine prevented neuronal loss.Conclusion: Our results suggested that anticonvulsant drugs may reduce the severity of seizures, and exert neuroprotective effects by altering the expression of neuropeptides and neurotrophins in the epileptogenic hippocampus.

A rare cause of brachial plexopathy: hereditary neuralgic amyotrophy.

Neuralgic amyotrophy is characterized by recurrent, painful, unilateral neuropathy involving mainly the upper brachial plexus followed by muscle weakness and muscle wasting. There are two forms: idiopathic and hereditary. Hereditary neuralgic amyotrophy is an autosomal dominant disease that is often linked to a mutation of SEPT9, a gene of the Septin family. The phenotypic spectrum of the disease may include hypotelorism, cleft palate, and other minor dysmorphisms. The age of onset is from infancy to adulthood. Hereditary neuralgic amyotrophy can be triggered by external stimuli such as infections, vaccinations, cold, stress, surgery, and strenuous exercise. Here, we report a six-year-old girl who was found to have mutation in the SEPT9 gene when she presented with recurrent attacks of painful brachial plexopathy following vaccinations, and was diagnosed as having hereditary neuralgic amyotrophy.

Permanent pain and brachial plexus injury after coronary bypass grafting: Case report and reviwing the literature.

Neurological complications of cardiac surgery is known for almost a century. Brachial plexus injury after coronary artery bypass grafting is not a rare complication, but the frequency of reporting is less because these are temporary and often symptoms requiring treatment. in a few cases peripheral neuropathy findings are permanent and causes of disability. Diagnosis is based on symptoms, imaging and electrophysiological studies and it is important that both treatments for both medical and legal liability. Here in 63-year-old male patient was diagnosed brachial plexus injury lasting neuropathic pain the left upper limb after uneventful coronary artery bypass surgery presented and causes and consequences were discussed with literature.