scholarly journals Clinical and electroencephalographic characteristics of neurodegeneration with brain iron accumulation type 5 in children on the example of 5 cases

2020 ◽  
Vol 15 (1) ◽  
pp. 47-61
Author(s):  
N. Yu. Perunova ◽  
M. Yu. Bobylova ◽  
T. M. Prygunova
Keyword(s):  
Magnetic Resonance ◽  
Family Relationships ◽  
Focal Epilepsy ◽  
Epileptiform Activity ◽  
Speech Disorders ◽  
Magnetic Resonance Images ◽  
Iron Accumulation ◽  
Motor Disorders ◽  
Brain Iron ◽  
Epileptiform Discharges

Neurodegenerative disease with brain iron accumulation type 5 (OMIM: 300894) manifests itself with early-onset epilepsy, mental retardation with stereotypies that resemble Rett syndrome, and motor disorders under the mask of cerebral palsy in childhood; since adolescence, patients usually have aggravation of parkinsonism and develop complications, such as torsion dystonia. We analyzed medical records of 5 female patients aged between 2.5 and 6 years. There were no family relationships between patients’ families. All children had problems with their motor skills: 4 out of 5 patients could only crawl; none of them could walk independently. We also observed severe speech disorders in these patients: they had no expressive speech along with reduced understanding of speech. Their behavior was characterized by contact disorders and multiple stereotypies. All children had no self-service skills. The assessment of neurological status demonstrated uniform symmetrical paresis (score 3–4; 100 % of cases), increased muscle tone of the extrapyramidal type (40 % of cases), and diffuse muscle hypotension with ataxia (40 % of cases). One patient (with autistic-like behavior) had no motor disorders. Magnetic resonance imaging showed non-specific changes in 100 % of cases (diffuse cortical / subcortical atrophy, secondary hydrocephalus ex vacuo). One patient was found to have hypointense signal in the substantia nigra and globus pallidus on follow-up T2‑weighted magnetic resonance images obtained at the age of 6 years. All patients presented with epilepsy: West syndrome (n = 1), Lennox–Gastaut syndrome (n = 1), focal epilepsy with asymmetric tonic seizures (n = 1), and focal epilepsy with febrile generalized tonic-clonic seizures (n = 2). Remission for more than 1 year was achieved in 4 out of 5 patients. The following electroencephalographic patterns were identified before treatment initiation: hypsarrhythmia with transformation into epilepsy with a pattern of continued spike-and-wave activity during sleep (n = 1), multi-regional epileptiform activity with a tendency to diffuse spread and predominance in the frontal region (n = 3), and regional epileptiform activity in the frontocentral area (n = 1). The initial therapy with first-line drugs was highly effective and ensured remission in 3 patients; one patient had remission in response to hormone therapy; one patient continued to have seizures despite polytherapy with antiepileptic drugs. Interictal epileptiform activity was completely blocked by treatment in 2 cases; the rest of the patients had transformation of epilepsy into benign epileptiform discharges of childhood (n = 3).

Non-inflammation cerebrospinal fluid and normal brain magnetic resonance images of Autoimmune encephalits

2019 ◽  
Author(s):  
Yake Zheng ◽  
Peng Zhao ◽  
yajun lian ◽  
Lihao Li ◽  
Yuan Chen ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Clinical Symptoms ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Speech Disorders ◽  
Magnetic Resonance Images ◽  
Normal Brain ◽  
Recurrence Rates ◽  
Clinical Prognosis

Abstract Background We set out to investigate the characteristics and factors related to non-inflammation cerebrospinal fluid (CSF) and normal brain magnetic resonance images (MRI) of autoimmune encephalitis (AE) in patients. Methods The distribution and characteristics of brain MRI and CSF in 124 patients who were living with anti-NMDAR(71), LGI1(26),CASPR2(4),GABAR(23) encephalitis and who had been admitted between October 2016 and May 2018 were analyzed prospectively. Results 12 of the 124 patients(1%) had a normal MRI and non-inflammation CSF.Ten of them were LGI1(83%),while the remaining 1 patient was NMDAR(8.3%),1 patient was CASPR2(8.3%).The clinical symptoms including epilepsy, psychosis, cognitive disorders, conscious disorders, headache, faciobrachial dystonic seizure (FBDS), speech disorders and hypoventilation. AE with non-inflammation CSF and normal MRI with good clinical prognosis. The median modified Rankin Scale (mRS) was low, and recurrence rate was also low. Conclusion The clinical manifestations of on-inflammation CSF and brain MRI-negative patients with AE are not specific, but suggest a better prognosis and a lower recurrence rates.

Stereoelectroencephalography-Guided Laser Ablations in Patients With Neocortical Pharmacoresistant Focal Epilepsy: Concept and Operative Technique

2018 ◽  
Vol 15 (6) ◽  
pp. 656-663 ◽  
Author(s):  
Louis Ross ◽  
Ahsan M Naduvil ◽  
Juan C Bulacio ◽  
Imad M Najm ◽  
Jorge A Gonzalez-Martinez
Keyword(s):  
Laser Ablation ◽  
Magnetic Resonance ◽  
Thermal Imaging ◽  
Radiation Necrosis ◽  
Focal Epilepsy ◽  
Magnetic Resonance Images ◽  
The Novel ◽  
Metastatic Brain Tumors ◽  
Magnetic Resonance Imaging Mri

Abstract BACKGROUND Laser ablation surgery has had encouraging results in the treatment of multiple intracranial diseases including primary and metastatic brain tumors, radiation necrosis, and epilepsy. The use of the stereoelectroencephalography (SEEG) method in combination with laser thermocoagulation therapy with the goal of modulating epileptic networks in patients with neocortical nonlesional phamacoresistant epilepsy has not been previously described. OBJECTIVE To describe the novel methodological and conceptual aspects related to SEEG-guided laser ablations in patients with magnetic resonance imaging (MRI)-negative pharmacoresistant neocortical focal epilepsy. METHODS Guided by previous SEEG intracranial data, a laser ablation probe was inserted by using a robotic guidance device in a 17-yr-old medically refractory epilepsy patient with difficult to localize seizures and nonlesional MRI. The laser applicator position was confirmed by MRI, targeting the left mesial rostral superior frontal gyrus. The ablation was performed under multiplanar digital imaging views and real-time thermal imaging and treatment estimates in each plane. A postablation MRI (contrasted T1 sequence) confirmed the ablation's location and size. RESULTS The entire procedure was achieved in approximately 100 min. The actual ablation was performed in less than 3 min. Approximately, additional 30 min preoperatively were used for positioning and robot registration. Precise placement of laser application (in comparison with preplanned trajectories) was achieved using the robotic guidance and confirmed by the intraoperative magnetic resonance images. No complications were reported. The patient has been seizure-free since surgery. The follow-up period is 20 mo. Two additional patients, treated with similar methodology, are also described. CONCLUSION The preliminary experience with the described method shows the feasibility of a unique combination of the SEEG methodology with laser thermocoagulation in patients with neocortical MRI-negative pharmacoresistant focal epilepsy.

scholarly journals Musical components important for the Mozart K448 effect in epilepsy

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Robert J. Quon ◽  
Michael A. Casey ◽  
Edward J. Camp ◽  
Stephen Meisenhelter ◽  
Sarah A. Steimel ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Focal Epilepsy ◽  
Epileptiform Activity ◽  
Brain Regions ◽  
Original Version ◽  
Pharmacological Intervention ◽  
Theta Power ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Insight Into

AbstractThere is growing evidence for the efficacy of music, specifically Mozart’s Sonata for Two Pianos in D Major (K448), at reducing ictal and interictal epileptiform activity. Nonetheless, little is known about the mechanism underlying this beneficial “Mozart K448 effect” for persons with epilepsy. Here, we measured the influence that K448 had on intracranial interictal epileptiform discharges (IEDs) in sixteen subjects undergoing intracranial monitoring for refractory focal epilepsy. We found reduced IEDs during the original version of K448 after at least 30-s of exposure. Nonsignificant IED rate reductions were witnessed in all brain regions apart from the bilateral frontal cortices, where we observed increased frontal theta power during transitions from prolonged musical segments. All other presented musical stimuli were associated with nonsignificant IED alterations. These results suggest that the “Mozart K448 effect” is dependent on the duration of exposure and may preferentially modulate activity in frontal emotional networks, providing insight into the mechanism underlying this response. Our findings encourage the continued evaluation of Mozart’s K448 as a noninvasive, non-pharmacological intervention for refractory epilepsy.

scholarly journals Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Peter Johnson ◽  
Roxanne Melbourne-Chambers ◽  
Nilesh Desai ◽  
Emma Greenaway
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Iron Accumulation ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Brain Iron ◽  
Extrapyramidal Signs ◽  
The Caribbean

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations inPANK2. This is the first reported case of PKAN from the Caribbean.

NREM Sleep and Antiepileptic Medications Modulate Epileptiform Activity by Altering Cortical Synchrony

2018 ◽  
Vol 49 (6) ◽  
pp. 417-424 ◽  
Author(s):  
Chetan S. Nayak ◽  
N. Mariyappa ◽  
Kaushik K. Majumdar ◽  
G. S. Ravi ◽  
Pradeep D. Prasad ◽  
...  
Keyword(s):  
Phase Synchronization ◽  
Focal Epilepsy ◽  
Sleep Stage ◽  
Epileptiform Activity ◽  
Nrem Sleep ◽  
Sleep Stages ◽  
Epileptiform Discharges ◽  
Drug Naïve ◽  
Antiepileptic Medications

Introduction. The activating role of non–rapid eye movement (NREM) sleep on epileptic cortex and conversely, the seizure remission brought about by antiepileptic medications, has been attributed to their effects on neuronal synchrony. This study aims to understand the role of neural synchrony of NREM sleep in promoting interictal epileptiform discharges (IEDs) in patients with epilepsy (PWE) by assessing the peri-IED phase synchrony during awake and sleep states. It also studies the role played by antiepileptic drugs (AEDs) on EEG desynchronization in the above cohort. Methods. A total of 120 PWE divided into 3 groups (each n = 40; juvenile myoclonic epilepsy [JME], temporal lobe epilepsy [TLE]. and extratemporal lobe epilepsy [Ex-TLE]) were subjected to overnight polysomnography. Each patient group was subdivided into drug-naive and on treatment (Each n = 20). EEG phase synchronization analysis was performed to compare peri-IED phase synchronization indices (SI) during awake and sleep stages and between drug naïve and on treatment groups in 4 frequency bands, namely delta, theta, alpha, and beta. The mean ± SD of peri-IED SI among various subgroups was compared employing a multilevel mixed effects modeling approach. Results. Patients with JME had increased peri-IED cortical synchrony in N3 sleep stage, whereas patients with partial epilepsy had increased IED cortical synchrony in N1 sleep stage. On the other hand, peri-IED synchrony was lower during wake and REM sleep. We also found that peri-IED synchronization in patients with JME was higher in drug-naive patients compared with those on sodium valproate monotherapy in theta, alpha, and beta bands. Conclusion. The findings of this study suggest that sleep stages can alter cortical synchrony in patients with JME and focal epilepsy, with NREM IEDs being more synchronized and wake/REM IEDs being less synchronized. Furthermore, it also suggests that AEDs alleviate seizures in PWE by inhibiting cortical synchrony.

Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders

2021 ◽  
Author(s):  
Prajnya Ranganath ◽  
Mallikarjun Patil
Keyword(s):  
Magnetic Resonance Imaging ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Neurodegenerative Disorders ◽  
Brain Magnetic Resonance Imaging ◽  
Iron Accumulation ◽  
Resonance Imaging ◽  
Brain Iron ◽  
Mri Brain ◽  
Magnetic Resonance Imaging Mri

AbstractThe “eye-of-the-tiger” sign in brain magnetic resonance imaging (MRI) is typically associated with neurodegeneration with brain iron accumulation disorders, especially pantothenate kinase-associated neurodegeneration. However, very similar neuroimaging findings may be seen in other neurodegenerative disorders involving the basal ganglia. We report here a patient with fucosidosis who had MRI brain findings closely resembling the “eye-of-the-tiger” sign.

scholarly journals Functional Connectivity of the Anterior Nucleus of the Thalamus in Pediatric Focal Epilepsy

2021 ◽  
Vol 12 ◽  
Author(s):  
Rory J. Piper ◽  
Chayanin Tangwiriyasakul ◽  
Elhum A. Shamshiri ◽  
Maria Centeno ◽  
Xiaosong He ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Focal Epilepsy ◽  
Epileptiform Activity ◽  
Epileptogenic Zone ◽  
Healthy Children ◽  
Anterior Nucleus ◽  
Epileptiform Discharges ◽  
Significant Difference ◽  
Before And After ◽  
Drug Resistant Epilepsy

Objective: Whilst stimulation of the anterior nucleus of the thalamus has shown efficacy for reducing seizure frequency in adults, alterations in thalamic connectivity have not been explored in children. We tested the hypotheses that (a) the anterior thalamus has increased functional connectivity in children with focal epilepsy, and (b) this alteration in the connectome is a persistent effect of the disease rather than due to transient epileptiform activity.Methods: Data from 35 children (7–18 years) with focal, drug-resistant epilepsy and 20 healthy children (7–17 years) were analyzed. All subjects underwent functional magnetic resonance imaging (fMRI) whilst resting and were simultaneously monitored with scalp electroencephalography (EEG). The fMRI timeseries were extracted for each Automated Anatomical Labeling brain region and thalamic subregion. Graph theory metrics [degree (DC) and eigenvector (EC) centrality] were used to summarize the connectivity profile of the ipsilateral thalamus, and its thalamic parcellations. The effect of interictal epileptiform discharges (IEDs) captured on EEG was used to determine their effect on DC and EC.Results: DC was significantly higher in the anterior nucleus (p = 0.04) of the thalamus ipsilateral to the epileptogenic zone in children with epilepsy compared to controls. On exploratory analyses, we similarly found a higher DC in the lateral dorsal nucleus (p = 0.02), but not any other thalamic subregion. No differences in EC measures were found between patients and controls. We did not find any significant difference in DC or EC in any thalamic subregion when comparing the results of children with epilepsy before, and after the removal of the effects of IEDs.Conclusions: Our data suggest that the anterior and lateral dorsal nuclei of the thalamus are more highly functionally connected in children with poorly controlled focal epilepsy. We did not detect a convincing change in thalamic connectivity caused by transient epileptiform activity, suggesting that it represents a persistent alteration to network dynamics.

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