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局灶性皮質發育不良與兒童孤獨癥譜系障礙的相關性研究進展

結節性硬化癥（Tuberous sclerosis complex，TSC）是一種常染色體顯性遺傳疾病，已被證實與兒童局灶性腦皮質發育（Focal cortical dysplasia，FCD）和孤獨癥譜系障礙（Autism spectrum disorder，ASD）的發病機理有關。作為研究 FCD 以及 ASD 的模型，許多文獻中都提到了 TSC，但目前尚不清楚具體機制。文章對 TSC 與 FCD 和 TSC與 ASD 患兒之間的關系，以及FCD與 ASD 之間的聯系，提出新的想法。

維生素 D 在生酮飲食治療癲癇中的意義

研究表明，維生素 D（Vitamin D，Vit D）在人類大腦和神經系統中扮演著重要角色。已有研究探索了 Vit D 在阿爾茨海默病、帕金森病、多發性硬化癥、精神分裂癥、情感障礙、認知衰退和癲癇等方面的作用，同時 Vit D 在神經系統中也起著神經營養、神經保護、神經傳遞等作用。研究證明，維生素 D 受體（Vitamin D receptor，VDR）普遍存在于神經元和神經膠質細胞乃至整個大腦、脊髓和周圍神經系統中，故 Vit D 在神經系統中的作用從 VDR 也得到了證實。Vit D 在神經系統中的廣泛作用提示了其在大腦中可能存在抗驚厥作用，而既往研究證明癲癇患者的 Vit D 水平普遍較低，且生酮飲食可能會進一步導致 Vit D 水平下降，因此，Vit D 的補充對于癲癇患兒以及生酮飲食治療癲癇的療效具有重要意義。

KRAS 基因新生突變（c.101C>G）致 Cardio-facio-cutaneous 綜合征一例

丙酮酸脫氫酶 E1α 亞基基因突變所致 Leigh 綜合征的臨床進展

Leigh 綜合征（Leigh syndrome，LS）是一種罕見的致死性亞急性腦病，是兒童線粒體病的常見表型，核基因及線粒體基因上多種基因位點突變均可導致這一罕見病，其中丙酮酸脫氫酶 E1α 亞基（PDHA1）基因所致的 LS（PDH-LS）約占比 10%，主要臨床表現為肌無力、共濟失調、神經退行性障礙等，但卻缺乏特異性。該疾病預后較差，目前尚無特異性治療方案，早期診斷及干預有助于改善 PDH-LS 預后，除了傳統的藥物治療及改善營養狀態外，生酮飲食亦是一種有益的治療選擇，因此早期明確診斷及相關基因型改變具有重大意義。LS 臨床表現多變且缺乏一致的特異性，為早期診斷治療帶來了挑戰。文章討論了 PDH-LS 的臨床表現，并總結了文獻報道的 PDH-LS 患者的表現及有預警意義的表現，以期提高其早期診斷率和相關的治療建議，希望能夠對此類患者的診治有所幫助。

生酮飲食療法歷史淺談

生酮飲食是一種脂肪高比例, 碳水化合物低比例, 蛋白質和其他營養素合適的配方飲食。不僅治療癲癇, 近來治療其他疾病也在探索中。生酮飲食的前身是斷食治療, 斷食不是完全斷絕食物和水, 只是減少熱卡, 維持飲水。為了更長時間維持斷食的療效, 1921年美國梅奧診所出現了生酮飲食療法。現在約翰.霍普金斯醫院領導著全球的生酮飲食治療。2004年我國大陸生酮飲食療法臨床開始于深圳市兒童醫院。中國古老的辟谷療法, 目前主要用于西醫醫院以外的養生保健, 操作和西方的斷食療法非常類似, 辟谷大約在2 500多年前就開始存在了。

Efficacy and safety of ketogenic diet in tuberous sclerosis complex with epilepsy

ObjectiveTuberous sclerosis complex (TSC) is a multiorgan disorder and mostly associated with intractable epilepsy. Now several individual reports suggest that epilepsy in children with TSC might benefit from a ketogenic diet (KD). We prospectively studied the curative effect of 14 children with the KD in the treatment of TSC with epilepsy. MethodsBetween 2008 and 2015, we enrolled 14 children with TSC and epilepsy who received KD treatment in Shenzhen Children's Hospital and followed up for at least three months.Outcome was measured by the change of seizure frequency before and after the KD in the use of anticonvusant drugs, adverse effects, and change in cognitive function. Results14 children aged 8 months to 7 years were included. 7/14 (50%) children had a > 50% reduction in seizure frequency at 3 months on the diet, 5/14 (36%) children had a seizure free response. 12/14 (86%) children with refractory epilepsy, 6/12 (50%) children had a > 50% reduction in seizure frequency, 2 children had reduced medications, one child did not use any antiepileptic drugs during KD. 6 of 12 children with developmental delays had cognitive function improvement. ConclusionsKD is a generally effective and safe therapy for TSC children with epilepsy, especially for refractory epilepsy. KD could reduce antiepileptic drugs, and also improve children's cognitive function.

Investigation on the development of ketogenic diet therapy in China

ObjectiveTo investigate the current situation of ketogenic diet treatment centers in China, including the target, quantity, indication diseases, staffing and regional distribution of ketogenic diet therapy centers.MethodsMembers from the China Association Against Epilepsy (CAAE) received an investigation on the development situation of ketogenic diet therapy in their own epilepsy centers through an online survey. ResultsAt present, there are 91 centers for ketogenic diet therapy in China, and among them, there are 74 centers (81.32%) only treat pediatric patients. 59 centers of them (64.83%) were established between 2010 and 2020; patients of 63 centers (69.23%) have been treated with ketogenic therapy for status epilepticus (SE), among which only 9 centers (14.29%) have 5 or more epileptic patients on averge per month. 35 centers (38.46%) are offering ketogenic diet treatment for indications other than epilepsy. The main diseases are autism spectrum disorder, encephalitis, febrile infection related epilepsy syndrome (FIRES), rare diseases and glycolipid metabolic diseases. All ketogenic diet treatment centers are equipped with high-quality professionals, mainly neurologists and pediatric physicians; There are significant differences in regional distribution, with centers in the eastern region accounting for more than half (53.85%). ConclusionsThe development of ketogenic diet therapy in China has achieved initial results, but there are still some problems such as small number of patients treated and uneven geographical distribution.

Application of scalp electroencephalogram in treatment of refractory epilepsy with vagus nerve stimulation

Electroencephalogram (EEG) has been an important tool for scientists to study epilepsy and evaluate the treatment of epilepsy for half a century, since epilepsy seizures are caused by the diffusion of excessive discharge of brain neurons. This paper reviews the clinical application of scalp EEG in the treatment of intractable epilepsy with vagus nerve stimulation (VNS) in the past 30 years. It mainly introduces the prediction of the therapeutic effect of VNS on intractable epilepsy based on EEG characteristics and the effect of VNS on EEG of patients with intractable epilepsy, and expounds some therapeutic mechanisms of VNS. For predicting the efficacy of VNS based on EEG characteristics, EEG characteristics such as epileptiform discharge, polarity of slow cortical potential changes, changes of EEG symmetry level and changes of EEG power spectrum are described. In view of the influence of VNS treatment on patients’ EEG characteristics, the change of epileptiform discharge, power spectrum, synchrony, brain network and amplitude of event-related potential P300 are described. Although no representative EEG markers have been identified for clinical promotion, this review paves the way for prospective studies of larger patient populations in the future to better apply EEG to the clinical treatment of VNS, and provides ideas for predicting VNS efficacy, assessing VNS efficacy, and understanding VNS treatment mechanisms, with broad medical and scientific implications.

A preliminary investigation of adenoid hypertrophy in children with epilepsy

Adenoid hypertrophy in children with epilepsy is rarely reported. This paper analyzes the clinical characteristics and incidence of adenoid hypertrophy in children with epilepsy.Methods The clinical data in children with epilepsy from December 2014 to April 2020 in Shenzhen Children's hospital were analyzed retrospectively.Results There were 449 cases diagnosed with adenoid hypertrophy (2.74%) in 16387 children with epilepsy. Among 449 cases of adenoid hypertrophy, 276 males (61.47%) and 173 females (38.53%). The age distribution was: 28 days to 1 year old, 8 cases (2%); 1-3 years old, 78 cases (17%); 3-6 years old 167 cases (37%); 6-12 years old, 153 cases (34%); 12-18 years old, 43 cases (10%). In 40 patients the IgG antibody were positive for EB capsid antigen in 25 (62.5%). In 56 cases of EB virus DNA were detected by fluorescence quantitative PCR, 25 (44.64%) positive, and 21/44 cases (47.72%) were positive by general nucleic acid detection of enteroviruses. The neutrophil reduction rate in peripheral blood was 42.19% in 673 tests, lymphocyteincreased in 292 (43.38%), platelet count increased in 307 (45.61%), abnormal in platelet hematocrit in 311 (46.21%); the mean volume of RBC was decreased in319 (47.39%) tests. The content of \begin{document}${\rm{HCO}_3^-} $\end{document} was reduced in 20/55 cases (36.36%). 25-hydroxy vitamin D was 33 (44.5%) decreased in 74 cases. The blood glucose was measured in 146 cases, 60 (41.09%) increased, total cholesterol was 31 (40.78%) increased in 76 cases, serum C peptide was 12 (29.26%) increased in 41 cases.Conclusion Adenoid hypertrophy in children with epilepsy may be related to infection, inflammation or immune disorder, which may cause nutritional, metabolic or internal environment disorders. Therefore, there is need of nursing and health education, transferring to specialized centers for diagnosis and treatment.