English

Abstract

Niemann Pick Disease ( NPD) is a rare autosomal recessive metabolic disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other lipids in reticuloendothelial cells of various organs like liver, spleen, bone marrow, lymph node, brain, nerves and kidney. Four types of the disease have been identified which are A, B, C and D. The type C is divided into types C1 and C2, each caused by a different gene mutation. We report a case of Niemann Pick Disease type B. The patient was a 10 month male child who presented with repeated episodes of vomiting and loose motions. His blood counts revealed pancytopenia. Bone marrow (BM) aspiration was performed which showed many large histiocytes with foamy cytoplasm- Niemann Pick cells which are characteristic of this disease. Further confirmatory investigations were not done because of nonaffordability of parents. At present no definite treatment is available however newer treatment modalities like Bone Marrow transplant, enzyme replacement therapy and gene therapy are likely to be useful especially in NPD type B. However such treatment is unlikely to prevent or reverse the major neurological complications of NPD type A. Supportive treatment through nutrition,medication, physical therapy can help to improve quality of life.