Research progress on the relationship between pediatric epilepsy and vitamin D / 中国临床药理学与治疗学

Epilepsy is a long-term, chronic, recurrent, multi-factorial, multi-symptomatic nervous system disease, and was caused by abnormal discharge of brain neurons. Etiology can cause irreversible brain dysfunction and even death. There are about 6.5 million children with epilepsy in China, with incidence rate twice that of adult, presenting serious threaten to children's growth and development. Vitamin D has been well-known for crucial importance to development of nervous, skeletal, and immune system. Studies have found that pediatric epilepsy as well as other neurological diseases were closely related with vitamin D deficiency. First, a large number of studies have shown that vitamin D in children with epilepsy is affected by epilepsy itself; second, the use of anti-seizure medicines can alter metabolism of vitamin D by inducing cytochrome oxidases; third, the inducement was concerned to varieties, combination and duration of anti-seizure medicines; fourth, it was expected that supplement of vitamin D during antiepileptic treatment would guarantee an improvement of treating given that anti-seizure medicines may lead to deficiency of vitamin D. Large numbers of researches have reported on the correlation ship between pediatric epilepsy and vitamin D. However, there is still a lack of systematic review. This article aims to retrospect the research progress of relationship between pediatric epilepsy and vitamin D, and provide valuable feedbacks on further treatment of pediatric epilepsy.

Case report of 16p11.2 microdeletion only manifested as paroxysmal kinesigenic dyskinesia / 中华实用儿科临床杂志

The clinical data of a child with paroxysmal kinesigenic dyskinesia (PKD) and being diagnosed and treated in the Department of Pediatrics of the First Affiliated Hospital of Zhengzhou University in October 2018 were analyzed retrospectively.The male patient was 13 years old.The clinical manifestation was the change of body position, and the temporary movement cannot appear.The manifestations included the turning of head to one side, the falling back of neck, head shaking, swinging, the tightly hugging of hands in front of the chest, the touching of two tiptoes to the ground, numb sole, and ache.Gene detection: chromosome 16p11.2 (chr16: 29594293-30189789) had about 595.5 kb heterozygosity deletion.A total of 8 cases of 16p11.2 microdeletion in children with PKD were reported in details.16p11.2 microdeletion is another form of gene expression that causes PKD.16p11.2 microdeletion should be screened for genetic evaluation in patients with PKD.

Case report of anti-AMPA2 receptor antibody encephalitis after herpes simplex virus encephalitis in child / 中华实用儿科临床杂志

The clinical data of a child with anti-(α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid, AMPA2) receptor antibody encephalitis after herpes simplex encephalitis was retrospectively analyzed.The child was a 9-year-old female developing abnormal mental behavior after fever.The auxiliary examination of the first hospital displayed, cerebrospinal fluid: sugar qualitative (+ ), white blood cell count 32×10 6/L, albumin measurement (immune turbidity method) 317.00 mg/L, immunoglobulin IgG 45.80 mg/L.Herpes simplex virus (+ ). Skull magnetic resonance imaging showed: abnormal signal at the top of the frontal frontotemporal, considering intracranial infection.Video electroencephalogram: the background is diffuse slow wave, a small amount of multifocal spikes, sharp waves, spine slow wave release, left frontal, and temporal sacral protrusions.One partial seizure may be detected during the awake period.The diagnosis was " herpes simplex virus encephalitis" , and the body temperature of the child returned to normal after anti-infection and hormone therapy.However, there were still cognitive impairments, irritability, and no language communication.After 2 years, there was no abnormality in routine biochemical and viral cerebrospinal fluid examination.Serum and cerebrospinal fluid autoimmune encephalitis-related antibody spectrum: anti-NMDA, AMPA1/2, GABAB receptor antibody and anti-CASPR2, LGI1 antibodies were negative in serum.The anti-AMPA2 receptor antibody in the cerebrospinal fluid was weakly positive, and the final diagnosis was anti-AMPA2 receptor antibody encephalitis.After the application of hormones, the children′s cognition improved, mood was more stable than before, and language communication improved as well.Anti-AMPA2 receptor antibody encephalitis can be observed in children, and may be related to immune response after viral infection.For patients of viral encephalitis with poor treatment or disease relapse and progression, the possibility of autoimmune encephalitis should be considered.

Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation / 中华医学遗传学杂志

OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM).@*METHODS@#The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR.@*RESULTS@#There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree.@*CONCLUSION@#The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.