We reported a case of microcephaly-capillary malformation(MIC-CAP)caused by STAMBP gene variant,in order to improve the clinical diagnosis and treatment.The patient is a 3-month-old male with recurrent convulsions and the main clinical manifestations are multiple forms of seizures,microcephaly,multiple small capillary malformations in the skin,and generalized hypotonia.The genetic test showed that a heterozygous variant in the STAMBP gene was present in the child.Both parents were heterozygous carriers.He was administrated various anti-seizure medications and ketogenic diet,but still had frequent seizures.He then underwent corpus callosotomy,and was followed up until he was 4 years and 10 months old.The post operational outcome was grade IV on Engel's classification.Based on the clinical data of 22 patients in literature,in addition to severe psychomotor retardation,microcephaly,and cutaneous capillary malformations,early-onset drug-refractory epilepsy is also a major feature of MIC-CAP syndrome,which is clinically rare and has a poor prognosis;Callosotomy may help to reduce seizures in the short term.However,the long-term outcome is poor.STAMBP gene is the main responsible gene for this syndrome.

Objective:To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation.Methods:The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were analyzed retrospectively. Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epileptic encephalopathy 85" "SMC1A, epilepsy" and "SMC1A, truncating" in PubMed, CNKI, and Wanfang databases were searched. Relevant literature was summarized and reviewed.Results:These 4 patients were all female. The onset age of seizure were all in the infantile period. They were admitted to the hospital at 3, 2, 11 and 18 months respectively. Focal seizures occurred in all 4 patients, while 1 of them experienced infantile spasm. The characteristic of cluster was observed in all of them with an interval of 14 days to 5.0 months. The seizures were all refractory to different kinds of anti-seizure medications. All 4 patients had severe developmental retardation with microcephaly (head circumference<-2 s). The interictal electroencephalogram (EEG) was characterized by diffuse slow wave. The 4 SMC1A gene variants were p.Gly655fs, p.Glu811fs, p.Arg412fs and p.Ile143fs, all of which were de novo frameshift variation after parental validation. There were another 17 cases with SMC1A gene truncating variation reported in 6 English articles and 1 Chinese article. Among these 21 patients, who were all female, the onset of seizures occurred between 0.5 and 18.0 months of age. Seventeen cases (81%) had the characteristics of cluster attacks, and the intervals of attack cycles were different. Seizure types included generalized tonic-clonic seizure (12 cases (57%)), focal seizure (11 cases(52%)), myoclonic(4 cases(19%)), spasm (4 cases(19%)), atypical absence (3 cases(14%)), tonic seizure (2 cases (10%)), and atonia (1 case(5%)). In addition, 4 cases (19%) had status epilepsy. All patients had moderate to severe mental retardation. Microcephaly was found in all patients. Among 18 cases,EEG in 8 cases had diffuse slow wave background. Brain magnetic resonance imaging (MRI) was normal in 13 cases (62%). Other MRI changes included cerebellar atrophy (3 cases), thin corpus callosum (3 cases), and lateral ventricular enlargement (2 cases). Twenty patients did not respond well to antiepileptic drugs. Conclusions:The clinical phenotypes of patients with epilepsy encephalopathy 85 caused by SMC1A gene truncating variation are characterized by female, early-onset, clustering of seizures, development delay and microcephaly. Diffuse slow waves are shown in interictal EEG in partial. Response to treatment and prognosis are poor.

Epilepsy is one of the major clinical features of tuberous sclerosis complex, and it is drug-resistant in the majority of cases.Surgical resection is an effective way to resolve the seizures.Precise preoperative evaluation is critical to the surgical outcome.Preoperative evaluation mainly aims to determine the range of the epileptogenic zone and the functional areas that should be preserved.Because of the complexity of the epileptogenic mechanism and brain network, there isn′t a single and specific measure that can accurately position the epileptogenic zone, so it is necessary to comprehensively evaluate and localize the epileptogenic zone by using multiple methods, including collection of a detailed medical history, symptomatic analysis during the attack of seizures, magnetic resonance imaging, positronemission tomography, electroencephalogram, neuropsychological evaluation, etc.In this paper, the rational use of above-mentioned approaches and comprehensive analysis of their results were summarized, which play an essential role in contro-lling seizures in children with tuberous sclerosis complex and refractory seizures.

Infants suffering from angiostrongylus eosinophilic meningitis (AEM) is rare, while AEM can cause severe consequences.The diagnostic value of high-throughput sequencing for AEM was studied by analyzing 2 AEM children (< 2 years old) in the Department of Neurology, Shenzhen Children′s Hospital in 2019.Case 1 mainly pre-sented intermittent fever, vomiting, mental fatigue and bregma bulge.Case 2 mainly manifested intermittent fever, cough, vomiting and convulsion.Due to hypereosinophils in patients′ peripheral blood and cerebrospinal fluid (CSF), and abundant DNA sequences from a cantonensis in CSF and positive antibody test, the patients were diagnosed with AEM.The patients were treated with albendazole to deworm, and small doses of methylprednisolone to reduce inflammation.The clinical characteristics of AEM infant are not typical, and high-throughput sequencing technology can assist the diagnosis of AEM.

Objective: To investigate the efficacy and safety of ketogenic diet (KD) and antiepileptic drugs(AEDs) in the children with drug refractory Dravet syndrome (DS). Methods: Thirty-two cases of drug refractory DS were enrolled into the Department of Neurology, Shenzhen Children′s Hospital Affiliated to Shantou University Medical School from July 2016 to December 2017, and they were divided into 2 groups: KD group and AEDs group (16 cases for each group), respectively.KD was added to as an additional therapy for KD group, and oral AEDs were administered only in AEDs group.In KD group, oral AEDs were not adjusted for the first 3 months.AEDs could be adjusted within a limited range in 2 groups after 3 months.The clinical efficacy, improvement of cognitive function, retention rate and side effects were observed and compared after 3, 6, 12 months of treatment.The average monthly seizure frequency within 3 months before enrollment was recorded as the baseline.The clinical efficacy was assessed by comparing the seizure frequency of each observation period with the baseline. Results: In KD group, after 3, 6, 12 months′ follow-up, KD the-rapy was maintained in 15, 14, 12 patients.The number of patients whose seizure reduction over 50% was 10, 12, 11 cases, respectively.The number of patients whose seizure reduction over 90% was 7, 9, 10 cases, respectively.The number of patients who were seizure free was 3, 6, 8 cases, respectively.In AEDs group, after 3, 6, 12 months′ therapy, the number of patients whose seizure reduction over 50% was 6, 7, 8 cases, respectively, the number of patients whose seizure reduction over 90% was 3, 3, 4 cases, respectively.The number of patients who were seizure-free was 2, 1, 2 cases, respectively.There was a significant difference in the seizure reduction between 2 groups after 6, 12 months (P<0.05). Furthermore, the incidence of status epilepticus (SE) was significantly reduced in KD group, and non-fever related status epilepticus (NFSE) was preferentially improved.There was a significant difference in the incidence of SE between before and after treatment in the KD group (P<0.05). After 12 months, there was a significant difference in the incidence of SE between 2 groups (P<0.05). After 6, 12 months of treatment, the patients in KD group had significant improvements in adaption, gross motor and language quotients by Gesell Developmental Scale compared to the AEDs group (all P<0.05). Eleven of 12 children who adhered to the therapy for 1 year in KD group had improvement of developmental quotient ≥ 1 grade, however, 7 cases of 16 children in AEDs group had this improvement.The incidence of adverse effect in the KD group and the AEDs group was 37.5%(6/16 cases) and 56.3%(9/16 cases), respectively, and the difference was not significant (P>0.05). Conclusions KD can not only reduce seizure frequency and relieve SE, but also improve the cognitive function of drug refractory DS.The adverse reaction ratio of KD does not increase significantly compared to AEDs.Therefore, KD is effective and safe therapy for children with drug-resistant DS.

Dravet syndrome (DS) is an epileptic (developmental) encephalopathy which onsets in infancy,most DS children are drug resistant.However,the emergence of new antiepileptic drugs is providing more options to treat DS.In the recent years,the efficacy of nonpharmacologic therapies (such as neurostimulation and ketogenic diet) had been also confirmed in DS.Now,the latest progress on clinical treatment of DS was elaborated.Besides that,the therapies on neuropsychological damages and how to prevent and deal with the status epilepticus and sudden unexpected death in children with DS were briefly introduced.

Objective To explore the role of NT-proBNP in the differentiation of acute pulmonary embolism (APE) from congestive heart failure (CHF) in patients with acute dyspnea.Methods Consecutive 260 patients aged ≥ 60 years complaining of acute dyspnea were collected between June 2010 and October 2015.The patients were divided into two groups of APE and CHF according to their diagnosis standards.The levels of NT-proBNP between the two groups were compared using t test,and receiver operating characteristic curve (ROC curve) was made to show the value of NT-proBNP in differentiation of APE from CHF.Results Patients in APE group had significantly lower median levels of NT-proBNP as compared with patients in CHF group [(2 478.8±1 473.9)ng/L vs.(5 955.4±3 180.1)ng/L,t =-12.020,P ＜ 0.01].The ROC curve of APE existence against serum levels of NT-proBNP showed an optimal cut-point of NT-proBNP of 1 518 ng/L,with specificity up to 98.8％,and the area under the ROC curve for NT-proBNP was 0.877.Conclusions NT-proBNP as a simple and bedside approach to identify APE versus CHF patients with acute dyspnea can help clinicians identify APE early and reduce the rates of misdiagnosis and missed diagnosis of APE.But the confirmative diagnosis of APE is still based on spiral CT angiography.

Objective: To compare blood levels of NT-proBNP and uric acid (UA) in patients with pulmonary thromboembolism (PTE) and chronic heart failure (CHF). Methods: A prospective research was conducted in 288 acute dyspnea patients treated in our hospital from 2010-06 to 2015-05. The patients were divided into 2 groups based on clinical diagnosis: PTE group,n=107 and CHF group, n=181. Blood levels of NT-proBNP and UA were examined in all patients, statistical analysis was performed by SPSS 17.0 software, independent samplet test or variance analysis were used to make comparison between 2 groups. Results: There were more male patients as 64/107 (59.8%) in PTE group and 103/181 (56.9%) in CHF group. Compared with CHF group, PTE group had the lower blood levels of NT-proBNP (2421.7±1678.1) pg/ml vs (6964.3±3873.1) pg/ml and UA (340.6±121.3) μmol/L vs (492.1±166.2) μmol/L, allP<0.01. Conclusion: In our research, blood levels of NT-proBNP and UA were lower in PTE patients than CHF patients; with general background, such phenomenon might be helpful to distinguish PTE and CHF in acute dyspnea patients in clinical practice.

Objective To evaluate the polymorphism of levonorgestrel by kinds of analysis technologies, and get the preponderant pharmaceutical polymorph by in vitro assessment including the stability and solubility. Methods Three polymorphs were obtained by quick solvent removal and precipitation methods. These polymorphs were characterized by X-ray powder diffraction (PXRD), differential scanning calorimetry (DSC), infrared absorption spectroscopy (IR), Raman spectroscopy and microscope. Furthermore,the stability was studied by X-ray powder diffraction analysis technology and using the curve of solubility to evaluate the dissolution rate of the three crystal forms. Results The levonorgestrel polymorphs α,β and γ were identified. The results of stability indicated that the levonorgestrel polymorphs α and β were metastable while the levonorgestrel polymorph γ was stable,and the dissolution rate of α, β, γ decrease in turn. Conclusion The levonorgestrel polymorph α is preponderant pharmaceutical polymorph. And the research on preponderant pharmaceutical polymorph of levonorgestrel provides scientific basic data for its clinical drug evaluation and establishing the quality standards.

Objective To analyze clinicopathologic features of sebaceoma. Methods Clinical, pathologic and immunohistochemical findings from 31 cases of sebaceoma were retrospectively analyzed. The clinicopathologic features of sebaceoma were investigated. Results There were 9 males and 22 females. The patients′ age was 53.90 ± 15.40 years, and the clinical course was 9.41 ± 13.75 years. Sebaceoma predominantly affected the face. The common lesion of sebaceoma was red, yellowish?red, skin?colored or slight brown papules, with no subjective symptoms in most cases. Histopathologically, neoplasms had symmetric structures, and were located in the dermis. Epidermal involvements were found in 9 cases. The neoplasm cells were mainly composed of basaloid cells, a few mature sebocytes and some transition cells. The proportion of mature sebocyts was less than 1%in 26 cases, less than 20%in 2 cases, and 20%-40%in 3 cases. Mitoses were occasionally found in 5 cases. One patient was complicated by eccrine poroma. Varying amounts of ducts were found in all the patients. Immunohistochemical staining showed that epithelial membrane antigen was expressed on ducts and mature sebocytes in all the patients, while epithelial antigen was undetected in any of the patients. Carcinoembryonic antigen, androgen receptor and D2?40 were found in 20, 24 and 28 patients with sebaceoma, respectively. Conclusions The diagnosis of sebaceoma mainly depends on histopathological examination. Combined immunohistochemical detection of epithelial membrane antigen, androgen receptor and D2?40 is beneficial to its differential diagnosis.