Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.1111/ped.15594

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：English   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：English   Publishing type：Research paper (scientific journal)  

Objectives: Long-term adrenocorticotropic therapy (LT-ACTH), which consisted of 2-4 weeks of daily injections of adrenocorticotropic hormone (ACTH) and subsequent months of weekly injections, was tried for relapsed West syndrome (WS) or other intractable epilepsies in small case reports. Our aim was to explore the efficacy of LT-ACTH for preventing WS relapse, as well as the prevalence of its adverse events. Methods: This is a retrospective, nationwide, multicenter case series of patients with WS who underwent LT-ACTH. Clinical information of the patients and protocol of LT-ACTH were collected from participating institutes in this study. We defined clinical response to ACTH as achievement of hypsarrhythmia and epileptic spasms resolution. Patients who responded to daily ACTH injections were identified and assessed whether they experienced WS relapse during/after the weekly ACTH injection period. The outcome was measured by the nonrelapse rate at 24 months after daily ACTH injections using the Kaplan-Meier method. Results: Clinical information of 16 children with WS was analyzed. The median age at LT-ACTH initiation was 14.5 months (range: 7-68 months). Thirteen (81%) patients had previously undergone conventional ACTH treatment. The LT-ACTH regimens comprised a median of 16 days of daily injections (range: 11-28 days) and 10 months of weekly injections (range: 3-22 months). Seven patients experienced WS relapse during/after subsequent weekly ACTH period, and the nonrelapse rate at 24 months after daily injections was estimated at 60.6% (95% confidence interval: 32.3%-80.0%). Height stagnation, hypertension, and irritability were observed; lethal adverse events were not reported. Significance: Our study firstly explored the efficacy of LT-ACTH for preventing WS relapse. LT-ACTH might be a treatment option for patients with relapsed or intractable WS; however, we note that our study is limited by its small sample size and the lack of an appropriate control group.

DOI： 10.1002/epi4.12497

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Researchers have looked for rapidly- and objectively-measurable electrophysiology biomarkers that accurately localize the epileptogenic zone. Promising candidates include interictal high-frequency oscillation and phase-amplitude coupling. Investigators have independently created the toolboxes that compute the high-frequency oscillation rate and the severity of phase-amplitude coupling. This study of 135 patients determined what toolboxes and analytic approaches would optimally classify patients achieving post-operative seizure control. Four different detector toolboxes computed the rate of high-frequency oscillation at ≥80 Hz at intracranial EEG channels. Another toolbox calculated the modulation index reflecting the strength of phase-amplitude coupling between high-frequency oscillation and slow-wave at 3-4 Hz. We defined the completeness of resection of interictally-abnormal regions as the subtraction of high-frequency oscillation rate (or modulation index) averaged across all preserved sites from that averaged across all resected sites. We computed the outcome classification accuracy of the logistic regression-based standard model considering clinical, ictal intracranial EEG and neuroimaging variables alone. We then determined how well the incorporation of high-frequency oscillation/modulation index would improve the standard model mentioned above. To assess the anatomical variability across non-epileptic sites, we generated the normative atlas of detector-specific high-frequency oscillation and modulation index. Each atlas allowed us to compute the statistical deviation of high-frequency oscillation/modulation index from the non-epileptic mean. We determined whether the model accuracy would be improved by incorporating absolute or normalized high-frequency oscillation/modulation index as a biomarker assessing interictally-abnormal regions. We finally determined whether the model accuracy would be improved by selectively incorporating high-frequency oscillation verified to have high-frequency oscillatory components unattributable to a high-pass filtering effect. Ninety-five patients achieved successful seizure control, defined as International League against Epilepsy class 1 outcome. Multivariate logistic regression analysis demonstrated that complete resection of interictally-abnormal regions additively increased the chance of success. The model accuracy was further improved by incorporating z-score normalized high-frequency oscillation/modulation index or selective incorporation of verified high-frequency oscillation. The standard model had a classification accuracy of 0.75. Incorporation of normalized high-frequency oscillation/modulation index or verified high-frequency oscillation improved the classification accuracy up to 0.82. These outcome prediction models survived the cross-validation process and demonstrated an agreement between the model-based likelihood of success and the observed success on an individual basis. Interictal high-frequency oscillation and modulation index had a comparably additive utility in epilepsy presurgical evaluation. Our empirical data support the theoretical notion that the prediction of post-operative seizure outcomes can be optimized with the consideration of both interictal and ictal abnormalities.

DOI： 10.1093/braincomms/fcab042

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OBJECTIVE: To investigate the diagnostic utility of high frequency oscillations (HFOs) via scalp electroencephalogram (EEG) in infantile spasms. METHODS: We retrospectively analyzed interictal slow-wave sleep EEGs sampled at 2,000 Hz recorded from 30 consecutive patients who were suspected of having infantile spasms. We measured the rate of HFOs (80-500 Hz) and the strength of the cross-frequency coupling between HFOs and slow-wave activity (SWA) at 3-4 Hz and 0.5-1 Hz as quantified with modulation indices (MIs). RESULTS: Twenty-three patients (77%) exhibited active spasms during the overnight EEG recording. Although the HFOs were detected in all children, increased HFO rate and MIs correlated with the presence of active spasms (p < 0.001 by HFO rate; p < 0.01 by MIs at 3-4 Hz; p = 0.02 by MIs at 0.5-1 Hz). The presence of active spasms was predicted by the logistic regression models incorporating HFO-related metrics (AUC: 0.80-0.98) better than that incorporating hypsarrhythmia (AUC: 0.61). The predictive performance of the best model remained favorable (87.5% accuracy) after a cross-validation procedure. CONCLUSIONS: Increased rate of HFOs and coupling between HFOs and SWA are associated with active epileptic spasms. SIGNIFICANCE: Scalp-recorded HFOs may serve as an objective EEG biomarker for active epileptic spasms.

DOI： 10.1016/j.clinph.2020.08.013

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Lower- and higher-order visual cortices in the posterior brain, ranging from the medial- and lateral-occipital to fusiform regions, are suggested to support visual object recognition, whereas the frontal eye field (FEF) plays a role in saccadic eye movements which optimize visual processing. Previous studies using electrophysiology and functional MRI techniques have reported that tasks requiring visual object recognition elicited cortical activation sequentially in the aforementioned posterior visual regions and FEFs. The present study aims to provide unique evidence of direct effective connectivity outgoing from the posterior visual regions by measuring the early component (10-50 ​ms) of cortico-cortical spectral responses (CCSRs) elicited by weak single-pulse direct cortical electrical stimulation. We studied 22 patients who underwent extraoperative intracranial EEG recording for clinical localization of seizure foci and functionally-important brain regions. We used animations to visualize the spatiotemporal dynamics of gamma band CCSRs elicited by stimulation of three different posterior visual regions. We quantified the strength of CCSR-defined effective connectivity between the lower- and higher-order posterior visual regions as well as from the posterior visual regions to the FEFs. We found that effective connectivity within the posterior visual regions was larger in the feedforward (i.e., lower-to higher-order) direction compared to the opposite direction. Specifically, connectivity from the medial-occipital region was largest to the lateral-occipital region, whereas that from the lateral-occipital region was largest to the fusiform region. Among the posterior visual regions, connectivity to the FEF was largest from the lateral-occipital region and the mean peak latency of CCSR propagation from the lateral-occipital region to FEF was 26 ​ms. Our invasive study of the human brain using a stimulation-based intervention supports the model that the posterior visual regions have direct cortico-cortical connectivity pathways in which neural activity is transferred preferentially from the lower-to higher-order areas. The human brain has direct cortico-cortical connectivity allowing a rapid transfer of neural activity from the lateral-occipital region to the FEF.

DOI： 10.1016/j.neuroimage.2020.116548

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Statistical parametric mapping (SPM) is a technique with which one can delineate brain activity statistically deviated from the normative mean, and has been commonly employed in noninvasive neuroimaging and EEG studies. Using the concept of SPM, we developed a novel technique for quantification of the statistical deviation of an intracranial electrocorticography (ECoG) measure from the nonepileptic mean. We validated this technique using data previously collected from 123 patients with drug-resistant epilepsy who underwent resective epilepsy surgery. We determined how the measurement of statistical deviation of modulation index (MI) from the non-epileptic mean (rated by z-score) improved the performance of seizure outcome classification model solely based on conventional clinical, seizure onset zone (SOZ), and neuroimaging variables. Here, MI is a summary measure quantifying the strength of in-situ coupling between high-frequency activity at >150 Hz and slow wave at 3-4 Hz. We initially generated a normative MI atlas showing the mean and standard deviation of slow-wave sleep MI of neighboring non-epileptic channels of 47 patients, whose ECoG sampling involved all four lobes. We then calculated 'MI z-score' at each electrode site. SOZ had a greater 'MI z-score' compared to non-SOZ in the remaining 76 patients. Subsequent multivariate logistic regression analysis and receiver operating characteristic analysis to the combined data of all patients revealed that the full regression model incorporating all predictor variables, including SOZ and 'MI z-score', best classified the seizure outcome with sensitivity/specificity of 0.86/0.76. The model excluding 'MI z-score' worsened its sensitivity/specificity to 0.86/0.48. Furthermore, the leave-one-out analysis successfully cross-validated the full regression model. Measurement of statistical deviation of MI from the non-epileptic mean on invasive recording is technically feasible. Our analytical technique can be used to evaluate the utility of ECoG biomarkers in epilepsy presurgical evaluation.

DOI： 10.1038/s41598-019-53749-3

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OBJECTIVE: To characterize the spatiotemporal dynamics of auditory and picture naming-related cortical activation in Japanese-speaking patients. METHODS: Ten patients were assigned auditory naming and picture naming tasks during extraoperative intracranial EEG recording in a tertiary epilepsy center. Time-frequency analysis determined at what electrode sites and at what time windows during each task the amplitude of high-gamma activity (65-95 Hz) was modulated. RESULTS: The superior-temporal gyrus on each hemisphere showed high-gamma augmentation during sentence listening, whereas the left middle-temporal and inferior-frontal gyri showed high-gamma augmentation peaking around stimulus offset. Auditory naming-specific high-gamma augmentation was noted in the bilateral superior-temporal gyri as well as left frontal-parietal-temporal perisylvian network regions, whereas picture naming-specific augmentation was noted in the occipital-fusiform regions, bilaterally. The inferior pre- and postcentral gyri on each hemisphere showed modality-common high-gamma augmentation time-locked to overt responses. CONCLUSIONS: The spatiotemporal dynamics of auditory and picture naming-related high-gamma augmentation in Japanese-speaking patients were qualitatively similar to those previously reported in studies of English-speaking patients. SIGNIFICANCE: The cortical dynamics for auditory sentence recognition are at least partly shared by cohorts speaking two distinct languages. Multicenter studies regarding the clinical utility of high-gamma language mapping across Eastern and Western hemispheres may be feasible.

DOI： 10.1016/j.clinph.2019.04.008

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OBJECTIVE: In this study the authors investigated the clinical reliability of diffusion weighted imaging maximum a posteriori probability (DWI-MAP) analysis with Kalman filter prediction in pediatric epilepsy surgery. This approach can yield a suggested resection margin as a dynamic variable based on preoperative DWI-MAP pathways. The authors sought to determine how well the suggested margin would have maximized occurrence of postoperative seizure freedom (benefit) and minimized occurrence of postoperative neurological deficits (risk). METHODS: The study included 77 pediatric patients with drug-resistant focal epilepsy (age 10.0 ± 4.9 years) who underwent resection of their presumed epileptogenic zone. In preoperative DWI tractography from the resected hemisphere, 9 axonal pathways, Ci=1-9, were identified using DWI-MAP as follows: C1-3 supporting face, hand, and leg motor areas; C4 connecting Broca's and Wernicke's areas; C5-8 connecting Broca's, Wernicke's, parietal, and premotor areas; and C9 connecting the occipital lobe and lateral geniculate nucleus. For each Ci, the resection margin, di, was measured by the minimal Euclidean distance between the voxels of Ci and the resection boundary determined by spatially coregistered postoperative MRI. If Ci was resected, di was assumed to be negative (calculated as -1 × average Euclidean distance between every voxel inside the resected Ci volume, ri). Kalman filter prediction was then used to estimate an optimal resection margin, d*i, to balance benefit and risk by approximating the relationship between di and ri. Finally, the authors defined the preservation zone of Ci that can balance the probability of benefit and risk by expanding the cortical area of Ci up to d*i on the 3D cortical surface. RESULTS: In the whole group (n = 77), nonresection of the preoperative preservation zone (i.e., actual resection margin d*i greater than the Kalman filter-defined d*i) accurately predicted the absence of postoperative motor (d*1-3: 0.93 at seizure-free probability of 0.80), language (d*4-8: 0.91 at seizure-free probability of 0.81), and visual deficits (d*9: 0.90 at seizure-free probability of 0.75), suggesting that the preservation of preoperative Ci within d*i supports a balance between postoperative functional deficit and seizure freedom. The subsequent subgroup analyses found that preservation of preoperative Ci =1-4,9 within d*i =1-4,9 may provide accurate deficit predictions independent of age and seizure frequency, suggesting that the DWI-based surgical margin can be effective for surgical planning even in young children and across a range of epilepsy severity. CONCLUSIONS: Integrating DWI-MAP analysis with Kalman filter prediction may help guide epilepsy surgery by visualizing the margins of the eloquent white matter pathways to be preserved.

DOI： 10.3171/2019.4.PEDS1994

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OBJECTIVE: We hypothesized that the modulation index (MI), a summary measure of the strength of phase-amplitude coupling between high-frequency activity (>150 Hz) and the phase of slow waves (3-4 Hz), would serve as a useful interictal biomarker for epilepsy presurgical evaluation. METHODS: We investigated 123 patients who underwent focal cortical resection following extraoperative electrocorticography recording and had at least 1 year of postoperative follow-up. We examined whether consideration of MI would improve the prediction of postoperative seizure outcome. MI was measured at each intracranial electrode site during interictal slow-wave sleep. We compared the accuracy of prediction of patients achieving International League Against Epilepsy class 1 outcome between the full multivariate logistic regression model incorporating MI in addition to conventional clinical, seizure onset zone (SOZ), and neuroimaging variables, and the reduced logistic regression model incorporating all variables other than MI. RESULTS: Ninety patients had class 1 outcome at the time of most recent follow-up (mean follow-up = 5.7 years). The full model had a noteworthy outcome predictive ability, as reflected by regression model fit R2 of 0.409 and area under the curve (AUC) of receiver operating characteristic plot of 0.838. Incomplete resection of SOZ (P < 0.001), larger number of antiepileptic drugs at the time of surgery (P = 0.007), and larger MI in nonresected tissues relative to that in resected tissue (P = 0.020) were independently associated with a reduced probability of class 1 outcome. The reduced model had a lower predictive ability as reflected by R2 of 0.266 and AUC of 0.767. Anatomical variability in MI existed among nonepileptic electrode sites, defined as those unaffected by magnetic resonance imaging lesion, SOZ, or interictal spike discharges. With MI adjusted for anatomical variability, the full model yielded the outcome predictive ability of R2 of 0.422, AUC of 0.844, and sensitivity/specificity of 0.86/0.76. SIGNIFICANCE: MI during interictal recording may provide useful information for the prediction of postoperative seizure outcome.

DOI： 10.1111/epi.14544

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BACKGROUND: Patients with infection-related acute encephalitis sometimes develop epilepsy in the chronic phase of the disease. Patients with postencephalitic epilepsy usually develop partial seizures due to the lesions generated by the encephalitis. We report a case who developed late-onset epileptic spasms after acute cerebral and cerebellar encephalitis. CASE REPORT: A 5-year-old girl showed severe tremor, gait ataxia, partial or generalized tonic-clonic seizures, hyperactivity, and panic attacks after a mild enterocolitis. Her cerebellar symptoms disappeared until 3 months after onset, and her seizures were controlled with carbamazepine. However, the seizures reappeared as epileptic spasms 5 months after onset. The anti-NMDA-type glutamate receptor antibody concentration was significantly elevated in her cerebrospinal fluid at 8 days, 10 months, and 15 months after onset. The spasms were resistant to multiple antiepileptic drugs. High-dose methylprednisolone and high-dose immunoglobulin therapies did not show any benefits. Oral pranlukast hydrate was started 17 months after onset. After 3 weeks of the medication, her seizures disappeared, and her behavior also dramatically improved. CONCLUSION: We presented a rare case of post-encephalitic epilepsy that manifested as epileptic spasms. Pranlukast significantly improved her seizures.

DOI： 10.1016/j.braindev.2017.11.006

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BACKGROUND: Vagus nerve stimulation (VNS) leads to palliation of refractory seizures. Epileptic spasms (ES) and tonic spasms (TS) appear in children with West syndrome and symptomatic generalized epilepsy. Both types of spasms are often characterized by truncal muscular contractions and ictal electroencephalography (EEG) findings comprising the contiguous phases: phase 1) 15-20 Hz, spindle-like fast activity (occur in 70%), 2) diffuse polyphasic δ/θ waves (100%), and 3) electrodecremental activity (70%). Here, we examined the effect of VNS on these spasms that are uniformly associated with the EEG and electromyogram changes. METHODS: A consecutive series of 32 patients satisfied the inclusion criteria consisting of 1) medically refractory epilepsy, 2) VNS implantation between 2010 and 2015, 3) implantation of VNS before the age of 20 years, and 4) follow-up >2 years. From this cohort, 16 patients had spasms (ES/TS group), whereas the remaining 16 had partial seizures with or without secondary generalization (PS/SG group). We compared seizure outcomes between the two groups, and also determined the factors predicting these outcomes within the ES/TS group. RESULTS: The outcomes after 2 years of implantation, defined using the McHugh classification, were as follows: II (for 2 patients), III (5), and V (9) in the ES/TS group; and I (3 patients), II (6), III (2), IV (1), and V (4) in the PS/SG group. The ES/TS group had significantly worse outcomes than the PS/SG group (p = 0.024, Mann-Whitney U test). Multivariate ordinal logistic regression analysis revealed that shorter mean durations of ictal events were associated with better seizure outcomes following VNS implantation (p = 0.007). SIGNIFICANCE: Only 13% of the patients in the ES/TS group had seizure reductions of greater than 50%. VNS was less effective for the treatment of patients with ES/TS than for those with PS/SG and those described in previous studies.

DOI： 10.1016/j.eplepsyres.2017.12.010

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Corpus callosotomy is a palliative therapy for refractory epilepsy, including West syndrome, without a resectable epileptic focus. The surgical outcome of corpus callosotomy is relatively favorable in cryptogenic (non-lesional) West syndrome. Tuberous sclerosis complex (TSC) is a disorder that frequently leads to the development of refractory seizures by multiple cortical tubers. The multiple cortical tubers cause multiple or wide epileptic networks in these cases. Most of West syndrome cases in TSC with multiple tubers need additional resective surgery after corpus callosotomy. We describe a case of TSC in a boy aged 4years and 8months. He had multiple cortical tubers on his brain and developed epileptic spasms. The seizures were controlled with valproate. At the age of 1year and 4months, he presented with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), and had relapsed epileptic spasms one month after the onset of the encephalopathy. The seizures were refractory to multiple antiepileptic drugs. A total corpus callosotomy was performed at the age of 3years and 8months. The patient did not show any seizures after the surgery. During 12months of the follow-up, the patient was free from any seizures. Even in cases of symptomatic WS with multiple lesions, total corpus callosotomy may be a good strategy if the patients have secondary diffuse brain insults.

DOI： 10.1016/j.braindev.2016.11.010

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DOI： 10.1038/jhg.2017.13

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Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families. Mutations in genes encoding aminoacyl-tRNA synthetases cause gene-specific mitochondrial disorders. Biallelic PARS2 or NARS2 mutations are reported to cause Alpers' syndrome, which is an autosomal recessive neurodegenerative disorder characterized by psychomotor regression and epilepsy with variable degree of liver involvement. Moreover, it is known that NARS2 mutations cause various clinical phenotypes, including non-syndromic hearing loss, Leigh syndrome, intellectual disability with epilepsy and severe myopathy. The individuals with PARS2 and NARS2 mutations, we have reported here demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. Our data broaden the clinical and mutational spectrum of PARS2- and NARS2-related disorders.

DOI： 10.1038/jhg.2016.163

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Language：Japanese   Publishing type：Research paper (scientific journal)  

X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome is a disorder associated with severe intellectual disability and intractable epilepsy. Intractable diarrhea is also observed frequently. At present, pathogenic background of diarrhea is not revealed and the essential treatment has not yet established. We encountered a patient with XLAG, who showed intractable diarrhea. Lactose removed hypoallergenic milk and somatostatin analogs were ineffective. For enteral nutrition was impossible, a tunneled central venous catheters was inserted to obtain a sustained parenteral nutrition management. However, catheter-related bloodstream infections were repeated in a short period of time. Thus, we introduced ethanol lock therapy for infectious disease prevention purposes. As a result, we succeeded continuous treatments with preserving the catheter.

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Language：Japanese   Publisher：(一社)日本小児神経学会  

脳梁欠損と外性器異常を伴うX連鎖性滑脳症は重度精神運動発達遅滞、難治性てんかんに加えて難治性下痢を合併することが知られている。現在のところ下痢の病態は明らかとなっておらず、治療方法も確立していない。我々は、1歳4ヵ月の本症例を経験したが、持続する難治性下痢に対して乳糖除去低アレルゲンミルク、ソマトスタチンアナログで対応したにもかかわらず改善が得られなかった。経腸栄養が不可能であったため、トンネル型中心静脈カテーテルを留置し、持続静脈栄養管理とした。しかし、短期間でカテーテル関連血流感染症を繰り返したため、感染症予防目的でエタノールロック療法を導入した。その結果、カテーテルを温存したまま治療継続が可能であった。(著者抄録)

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Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2016&ichushi_jid=J01232&link_issn=&doc_id=20160908410006&doc_link_id=%2Fcl1nohat%2F2016%2F004805%2F007%2F0347-0350%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fcl1nohat%2F2016%2F004805%2F007%2F0347-0350%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Language：Japanese   Publisher：(公社)神奈川県医師会  

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OBJECTIVE: GABRA1 mutations have been identified in patients with familial juvenile myoclonic epilepsy, sporadic childhood absence epilepsy, and idiopathic familial generalized epilepsy. In addition, de novo GABRA1 mutations were recently reported in a patient with infantile spasms and four patients with Dravet syndrome. Those reports suggest that GABRA1 mutations are associated with infantile epilepsy including early onset epileptic encephalopathies. In this study, we searched for GABRA1 mutations in patients with infantile epilepsy to investigate the phenotypic spectrum of GABRA1 mutations. METHODS: In total, 526 and 145 patients with infantile epilepsy were analyzed by whole-exome sequencing and GABRA1-targeted resequencing, respectively. RESULTS: We identified five de novo missense GABRA1 mutations in six unrelated patients. A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy. Four of these mutations have not been observed previously. SIGNIFICANCE: Our study suggests that de novo GABRA1 mutations can cause early onset epileptic encephalopathies, including Ohtahara syndrome and West syndrome.

DOI： 10.1111/epi.13344

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Wolf-Hirschhorn syndrome (WHS) is a chromosome disorder (4p-syndrome) which is characterized by craniofacial features and epileptic seizures. Here, we report a case of WHS with West syndrome, in whom the seizures were refractory to several antiepileptic drugs but were responsive to the addition of lamotrigine. The patient had epileptic spasms at age seven months. The interictal electroencephalogram was hypsarrhythmic. After adding lamotrigine, seizures decreased remarkably, and spasms disappeared. We have identified and described the very rare case of a girl with WHS who also developed West syndrome. In this case, adding lamotrigine to her medications effectively treated the spasms.

DOI： 10.1016/j.ebcr.2016.07.001

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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BACKGROUND: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common syndrome among the acute encephalopathies, and is associated with a high incidence of neurologic sequelae. This study examined the efficacy of cyclosporine (CsA) for the treatment of AESD. METHODS: Fourteen children with AESD were recruited and categorized as group A (not receiving CsA) and group B (receiving CsA). Clinical course, laboratory data, magnetic resonance imaging (MRI), and outcome were analyzed retrospectively. We divided the patients into three types according to the distribution of abnormalities on MRI: frontal lobe predominant type, unilateral cerebral hemisphere type, and diffuse type. We used the Pediatric Cerebral Performance Category scale (PCPC) and the Pediatric Overall Performance Category scale (POPC) as prognostic measures. RESULTS: Of the 14 children, five were boys (age range, 9-32 months). PCPC score was: 1 for seven patients, 2 for three patients, and 3 for four patients. There was no significant difference in PCPC between groups A and B (P = 0.293). POPC score was: 1 for six patients, 2 for five patients, and 3 for three patients. There was a significant difference in POPC between groups A and B when patients with the frontal lobe predominant type were excluded (P = 0.020). CONCLUSIONS: CsA could improve the neurological prognosis of patients with AESD, except for those with frontal lobe predominant type.

DOI： 10.1111/ped.12288

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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We describe the case of a 3-year-old boy diagnosed with the fulminant form of acute disseminated encephalomyelitis (ADEM). He developed general fatigue, fever, drowsiness and difficulty in walking. He had extensive multiple high-intensity lesions in the white matter of the cerebrum and cerebellum, which are typical findings of ADEM. He became comatose and developed decerebrate rigidity with severe brain edema despite high-dose methylprednisolone therapy, and then was subjected to mild hypothermia therapy, and given i.v. immunoglobulin. The patient recovered remarkably with the sequela of only mild action tremor. The patient was considered to have acute hemorrhagic leukoencephalitis (AHLE), an extremely severe form of ADEM, in terms of the rapidly deteriorating clinical course and neuroimaging features. It was speculated that AHLE and ADEM might be a continuous disease spectrum. It is considered that the severe brain edema associated with ADEM or AHLE is a suitable indication for mild hypothermia therapy.

DOI： 10.1111/ped.12180

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：日本小児感染症学会  

症例はインフルエンザウイルスA型に感染し、解熱後に見当識障害が出現した13歳の女児。髄液検査、頭部MRI検査、脳波検査で異常を認めず、無治療で軽快した。後に血液・髄液中よりNMDA型グルタミン酸受容体に対する抗体が検出され、非ヘルペス性急性辺縁系脳炎(non-herpetic acute limbic encephalitis:NHALE)と診断した。NHALEは神経学的後遺症を残す症例も見受けられ、予後良好な疾患とは言い難い。また早期治療が予後を改善する可能性があるため、早期診断は重要である。インフルエンザウイルスに感染し、解熱後に見当識障害を認める場合は、画像、髄液検査、脳波検査で異常所見を認めなくてもNHALEを考慮する必要がある。(著者抄録)

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：English   Publisher：(一社)日本てんかん学会  

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Language：English   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese   Publisher：(一社)日本てんかん学会  

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Language：Japanese  

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Other Link： http://search.jamas.or.jp/link/ui/2016319668

Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：(一社)日本小児神経学会  

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Language：Japanese   Publisher：聖隷浜松病院  

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Language：Japanese   Publisher：聖隷浜松病院  

てんかんセンターの現況について報告した。てんかんセンター設立後、マンパワー、設備投資、広報の状況について検討し、外来受診・長時間ビデオ脳波モニタリング(LTM)目的の入院・手術件数に関して評価した。市民公開講座は年1回以上の頻度で開催した。外来患者数も上昇傾向で、2008年では年間24783例であったが、2011年28973例と上昇傾向である。市民公開講座の影響もあり、2013年外来初診患者389例のうち、東三河41例、愛知県89例、岐阜県11例、三重県8例、中東遠53例、浜松市187例と他市他県からの受診もある。LTM入院、手術件数は2010年に急激な件数の増加があったが、現在は年間それぞれ90例、60例程度を維持している。689件のLTMを施行し、インシデント・アクシデントは4例であった。

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Language：Japanese  

J-GLOBAL

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Language：Japanese  

J-GLOBAL

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese  

CiNii Books

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Other Link： http://search.jamas.or.jp/link/ui/2015359972

Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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