A SEVEN-MONTH-OLD INFANT WITH NIEMANN PICK DISEASE:A CASE REPORT / 现代医院

ABSTRACT

Objective To study the various clinical manifestations of niemann pick disease, and to improve the ability of diagnosis and differential diagnosis in order to reduce misdiagnosis or missed diagnosis.Methods The onset and diagnostic procedure of a seven-month-old infant with niemann pick disease were reported and relative literature were reviewed and studied.Results The infant demonstrated severe hepatosplenomegaly, abnormity of liver function, anemia and development backwardness.Bone marrow examination indicated storage cells suggestive of niemann pick cells.Conclusion Niemann pick disease is a group of rare diseases with various clinical manifestations. Clinical suspected cases need further bone marrow examination, pathologcal biopsy and gene tests.