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Objective:To summarize the clinical phenotype and genetic characteristics of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene variation. Methods:The clinical and genetic data of a child with Poirier-Bienvenu neurodevelopmental syndrome caused by shear variant of CSNK2B gene who was diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University in March 2022 were collected. Previous relevant literature at home and abroad was reviewed to summarize the clinical characteristics of the disease. Results:The child was a girl aged 13 months, mainly due to "intermittent convulsions for 2 months" for consultation. The clinical manifestations of the girl were normal face, generalized tonic-clonic seizures, low intelligence, language and motor retardation, and there was no abnormality in the long-range video electroencephalography and the head magnetic resonance imaging. No abnormality was found in chromosome karyotype analysis and chromosome coefficient of copy variation analysis. The whole exon gene sequencing test indicated that the child carried de novo heterozygous shear variant of CSNK2B gene c.291+5G>C, which had not been reported in the literature. According to the clinical manifestations and genetic examination results of the child, the diagnosis of Poirier-Bienvenu neurodevelopmental syndrome was clear. The CSNK2B gene of the proband′s parents and the twin sister was wild-type. The application of sodium valproate anti-seizure medication could effectively control the seizures of the child, and by giving rehabilitation function training, the child′s language and gross motor function was improved. Conclusions:The Poirier-Bienvenu neurodevelopmental syndrome is a rare autosomal dominant disorder caused by variants in the CSNK2B gene. The clinical manifestations are infancy-onset seizures, intellectual development disorders, language and motor development disorders, etc, and the video electroencephalogram and skull magnetic resonance are mostly normal. The CSNK2B gene shear variant is the genetic etiology of the proband.
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Objective To analyze the spatial distribution characteristics of tuberculosis in rural areas of Nanning City from 2010 to 2018, and explore the clustering areas, and to provide evidence for tuberculosis prevention and treatment. Methods The database of tuberculosis epidemics in rural areas of Nanning City from 2010 to 2018 was established by ArcGIS 10.8. The spatial distribution map was drawn, and global autocorrelation, local autocorrelation and hotspot analysis were conducted. Results The spatial distribution map of the average annual reported incidence rates in rural areas of Nanning from 2010 to 2018 showed that the towns with high average annual incidence rates were Jinchai Town and Yangqiao Town. Global autocorrelation analysis showed that the Moran's I index from 2010 to 2018 was 0.18 (Z=2.33, P=0.02), suggesting that tuberculosis in rural areas of Nanning had spatial clustering in the regional distribution. Local autocorrelation analysis showed that tuberculosis in rural areas of Nanning had high-high clustering, low-low clustering, high-low clustering and low-high clustering patterns. Among them, Jinchai Town and Lidang Yao Township were high-high clustering areas. Litang Town, Xinfu Town and Taoxu Town were low-low clustering areas. Local hotspot analysis showed that “hotspot” areas included Jinchai Town, Yangqiao Town and Lidang Yao Township. Conclusion There is a spatial clustering of tuberculosis epidemics in rural areas of Nanning. The high-incidence areas include Jinchai Town, Yangqiao Town and Lidang Yao Township, and the low-incidence areas include Litang Town, Xinfu Town and Taoxu Town.
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Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.