NIEMANN PICK DISEASE WITH GROWTH HORMONE DEFICIENCY

Niemann pick disease is an autosomal recessive condition, due to deficiency of acid sphingomyelinase , a lysosomal enzyme . Deficiency leads to pathologic accumulation of sphingomyelin in monocyte macrophage system. 5 yr old male child, 3rd born of consanguineous marriage with history of fever, cough, breathlessness was found to have anaemia with hepatosplenomegaly , short stature with pancytopenia and cherry red spot. Bone marrow examination showed sea blue histiocytes . The child was diagnosed to have NIEMANN PICK DISEASE TYPE B with GROWTH HORMONE DEFICIENCY