Clinical Analysis Of 18 Case Of Niemann-pick Disease

Objective: To analyze and summarize the clinical features,diagnosis,treatment and prognosis of Niemann-Pick disease,and to improve the recognition and diagnostic level of Niemann-Pick disease,and reduce misdiagnosis and missed diagnosis.Methods: The clinical data of 18 children with Niemann-Pick disease from 2005 to 2019 in Children’s Hospital of Chongqing Medical University were collected and analyzed.and the treatment and prognosis were followed up.Results: 18 cases of NPD had hepatosplenomegaly of varying degrees,5 cases had physical development lag,8 cases had neurological involvement,16 cases had transaminase increase,4 cases had TBIL increase,15 cases had HDL decrease,12 cases had TG increase,There were 9 cases which had lung involvement,3cases who accepted the examination of ocular fundus showed Macular degeneration.Niemann pick cells were found in all 18 cases.Conclusion: Niemann-Pick disease in children is a rare autosomal recessive disease with high mortality and poor prognosis,the marriage of close relatives should be avoided,and genetic counseling and prenatal testing should be paid attention to.The clinical manifestations of the disease are various,when we are faced with liver and spleen enlargement,especially spleen enlargement,liver function damage of unknown reason,we should be alert to the possibility of the disease,and pay attention to complete the blood lipid test,carefully ask if there are symptoms of nervous system involvement.The positive rate of Niemann pick cells by bone marrow puncture is high,which can be used as an important means of early diagnosis.