Niemann-Pick Disease: A case report

This case study’s major objective to explore the limitations of treatment and management arisen of having Niemann pick disease, due to poor prognosis or lack of early diagnosis. Mrs. Pinki, 30 years old female patient from Chuadanga, with the complaint of upper abdominal swelling for 6 months, generalized weakness for last 3 months, anorexia & nausea for same duration, came to private chamber somewhere in Bangladesh, on 10th April 2023. She also complained generalized weakness for last 6 months associated with anorexia, nausea for same duration. Bone marrow examination confirmed the possible diagnosis of Niemann pick disease. Until her last follow up report, the patient was alive and clinically sound comparing to her previous condition. However, due to her lower socio-economic condition, she didn’t continue the follow ups and could not able to do Sphingomyelinase enzyme level according to the physician’s advice. Social awareness against consanguineous marriage & adding enzyme estimation facilities can a revolutionary change in reducing the mortality rate of this disease.