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Objective@#To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures.@*Method@#The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism""RDP""DYT12" as key words was reviewed.@*Result@#The proband boy was three years and four months old (April 2015) when he had the first attack of the disease. After a febricity, he suddenly acquired acute aphasia and limb movement disorder. Rehabilitation therapy and supportive treatment made his speech gradually recovered but still slurred. However, his abnormal walking posture still existed. Nine months later (January 2016, 4 years and one months old), symptoms including aphasia, dysphagia, and weakness with rostrocaudal gradient reoccured after fever. The disease progressed to the critical condition within 24 hours. He"seizured" four times with tonic spasms of limbs but without loss of consciousness. Family history showed his grandparents were consanguineous marriage. His mother and brother also developed abnormal gait and dysarthria after an infection before primary school age. Their symptoms improved gradually without relapsing. However, they did not recover entirely with mild intellectual disability. His mother had a healthy brother and sister. This proband had no other siblings but the brother. Heterozygous missense mutation p. R756H in ATP1A3 gene was detected in this proband, his mother and his brother. This mutation had been reported pathogenically related to RDP, and it located in highly conserved gene region. Benzodiazepine was used for the proband and his brother, with the proband being improved better although not completely. Meanwhile, benzodiazepine had no significant effect on his mother because of poor compliance. This is the first case report of RDP in China. The mutations of ATP1A3 have been previously reported in 51 patients including 6 large families and 16 other unrelated patients. A total of 14 different mutations in ATP1A3 gene with RDP have been reported to date, including 12 missense mutations, a 3-bp in-frame deletion, and a 3-bp in-frame insertion. The sporadic cases all had the typical clinical phenotypes of RDP, such as the abrupt onset of dysarthria, dysphagia, limb dystonia with bradykinesia, and postural instability. The symptoms of bulbar and arms were much more obvious. It was hard to diagnose RDP in a family because some patients had typical symptoms of RDP, while the others might experience from mild symptoms to no symptoms, which might be related to incomplete penetrance of RDP. Two cases carrying the same mutation as our patients also presented some overlapping phenotypes.@*Conclusion@#The p. R756H heterozygous mutation in ATP1A3 gene is the pathogenic mutation of RDP, analysis of genotype-phenotype correlations of RDP will be very important and meaningful.
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Objective@#To explore the association between the phenotype and KCNB1 gene mutation.@*Method@#Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM). Searching was done using "KCNB1" as a keyword.@*Result@#A 3.5 years old boy who visited our hospital firstly at the age of 2 years because of development delay came for follow up as he developed seizures.The forms included tonic, clonic seizures and spasm. The condition became more severe 10 months later. Electroencephalogram(EEG) showed high frequency discharge (>85%). He had poor response to multiple anti-epileptic drugs, methylprednisolone and ketogenic diet. At the age of 3, he started to have mental regression. Whole exome-sequencing study (trios) identified a novel heterozygous mutation c. G1136T (p.G379V) in KCNB1, which is not available in the databases mentioned above. This is the first case report of KCNB1 gene mutation in China. Eight cases have been reported so far worldwide and all of them were diagnosed with refractory epilepsy. Those 8 reported cases of encephalopathy were all due to de novo mutation.@*Conclusion@#The main clinical features of patients with KCNB1 mutations include severe to profound intellectual disability, intractable seizures, hypotonia and regression of cognition and motor activity which lead to poor prognosis.
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<p><b>OBJECTIVE</b>To investigate the clinical effects of electroacupuncture (EA) at Fenglong (ST 40) on blood lipids.</p><p><b>METHODS</b>Two hundred and four patients of hyperlipidemia were randomly divided into a Fenglong group and a Xuezhikang group, 102 cases in each group. The patients in the Fenglong group were treated with electroacupuncture at Fenglong (ST 40). After arrival of qi, the needles were connected with acupoint nerve stimulator (LH 202 H type, HANS). The primary parameters of EA: for high triglycerides (TG) type, AM 50 Hz, intensity 1 mA, needle-retained time 20 min, twice per week; for high cholesterol (CHO) type, AM 100 Hz, intensity 1 mA, needle-retained time 30 min, thrice per week; for high low-density-lipoprotein (LDL-C) type, the same parameters as the high CHO type except the tolerable and comfortable intensity; for the mixing type, corresponding methods were alternatively used. The patients in the Xuezhikang group received Xuezhikang capsule orally, 2 capsules each time and twice daily, for total 11 weeks.</p><p><b>RESULTS</b>The total effective rates of the Fenglong group and the Xuezhi-kang group were 83.0% and 85.9%, respectively, with no significant difference between the two groups (P > 0.05), and there was no significant differences in the function of regulating blood lipids between the two groups (all P > 0.05). After one month follow-up survey, the total CHO, TG and LDL-C decreased and high-density-lipoprotein (HDL-C) increased, of which there was a significant difference in TG reduction (P < 0.05). There were no relapses in both groups.</p><p><b>CONCLUSION</b>EA at Fenglong (ST 40) can effectively regulate blood lipids with a better after-effect, which can be applied as a safe and effective method to replace medication for regulating blood lipids.</p>