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Objective To evaluate the value of detecting abnormal lymphocyte morphology in peripheral blood and Epstein Barr Virus(EBV)DNA quantity through real-time quantitative PCR (RT-qPCR)in the initial diagnosis for infants patients with infectious mononucleosis (IM).Methods From Jan.2013 to Dec.2014 212 infants patients with IM were analysed ret-rospectively,which were all in-patients in the hospital.The abnormal lymphocyte morphology in peripheral blood and Epstein Barr Virus (EBV)DNA quantity were both detected in the initial fever period and a week later.The latter was detected by real-time quantitative PCR (RT-qPCR),combined with all the symptoms were all analysed comprehensively.The percentage of abnormal lymphocyte more than 10% was positive,and the EBV-DNA quantity more than 1.0×103 copy per ml was posi-tive,too.Results Of all the infants patients,in the initial fever period,82 patients had more than 10% positive abnormal lymphocyte and 100 patients had positive EBV-DNA quantity.But a week later,156 patients had more than 10% positive ab-normal lymphocyte,the maximum abnormal lymphocyte was 56%.And 180 patients had positive EBV-DNA quantity.When both abnormal lymphocyte morphology in peripheral blood and Epstein Barr Virus (EBV)DNA quantity were detected,in the initial fever period,125 patients were positive,it rose significantly more than that of abnormal lymphocyte morphology in peripheral blood (χ2=17.45,P<0.01),and that of Epstein Barr Virus (EBV)DNA quantity,too (χ2=5.92,P<0.05). But a week later,190 patients were positive,it rose significantly more than that of abnormal lymphocyte morphology in pe-ripheral blood (χ2=18.16,P<0.01).There was no significantly rising more than that of Epstein Barr Virus (EBV)DNA quantity (χ2=2.12,P>0.05).Conclusion The detecting of peripheral blood cell morphology combined with EBV-DNA
quantity are very important in the initial diagnosis for infants patients with infectious mononucleosis.Including all the symp-toms,they could improve the diagnosis timely and accurately.

9.Clinical characteristics and gene mutation analysis of cerebrotendinous xanthomatosis

Bo WEI ; Shanying MAO ; Zhirong LIU ; Meiping DING

Chinese Journal of Neurology 2012;45(9):646-649

Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.