DOI: 10.36347/sjmcr.2014.v02i01.021

Pages: 52-53

The Niemann-Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities involving various organs like liver, lungs and brain. The diagnosis requires enzymatic studies, which can be long and difficult in resource poor settings. In this context, the detection of cytological anomalies in blood and bone marrow smears, allowing a rapid screening, is an important step in the diagnostic approach. A review of English medical literature shows that 1,200 cases of NPA and NPB worldwide have been reported with the majority being Type B or an intermediate form. Since 1957, at least 27 cases of Niemann-Pick disease have been reported from India. The rarity of the Type A disease and difficulties in its diagnosis have prompted reporting of a new case of Niemann- pick disease that could be diagnosed on the basis of Clinical correlation and Liver Biopsy. A 11 months old child presented with feeding problems, abdominal distension. Bone marrow aspiration and Liver Biopsy was performed and revealed the presence of vacuolated cells. Diagnosis of type A Niemann-Pick disease was made by clinical correlation and Investigatory work up.