Abstract

We report a case of type B Niemann-Pick disease in a 39-year-old female patient. She presented with hepatomegaly, splenomegaly and moderate mental retardation without other signs or symptoms. Her bone marrow was shown to be infiltrated with sea blue histiocytes. The patient underwent esophagogastroduodenoscopy which revealed grade II–III non-bleeding esophageal varices in the distal esophagus. Enzyme assay of leucocytes demonstrated deficiency of sphingomyelinase activity. It revealed that our patient had chronic Niemann-Pick disease without neurological but liver and pulmonary involvement, with the findings of sea blue histiocytosis.