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Objective To investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuh(a)user syndrome(BNS), hoping to help physicians recognize this rare disease. Methods A 25-year-old BNS patient was reported.The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized.The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia,epilepsy, and then got worse progressively.Brain MRI showed severe cerebellar atrophy.Two mutations of PNPLA6 gene were found: one is the heterozygous mutation c.1811C >T (p.A604V),which has not been reported;another is c.2990C>T(p.S997L),which has been reported as a pathogenic mutation related to BNS.Conclusion PNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia,secondary sexual characteristics dysplasia and epilepsy.
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Objective To investigate the patients′cell morphology characteristics in peripheral blood and bone marrow with the reduce of leukocyte,hemoglobin and platelet in peripheral blood,and analyze the common cause.Methods From June 2005 to Feb-ruary 2011,222 patients with pancytopenia treated in the hospital were enrolled in the study,whose peripheral blood and bone mar-row smears were stained by Wright,combined with histochemical staining and the clinical data of patients,the disease types were analyzed.Results In the 222 patients with pancytopenia,patients with hematopoietic system disease accounted for 84.65% (188/222),non-hematopoietic system disease accounted for 15.35%(34/222),the difference was statistically significant(P <0.05 ).In 150 patients whose peripheral blood smears were obseved,58% patients obtained positive results.Conclusion The diseases of hem-atopoietic system are the common cause of pancytopenia,but can not ignore the non-hematopoietic system diseases.Peripheral blood smear has a high value in the diagnosis of these diseases.