All issues > Volume 28(12); 1985

Case Report

J Korean Pediatr Soc. 1985;28(12):1238-1244. Published online December 31, 1985.

A Case of Niemann-Pick Disease with Sea-Blue histiocytes in the Bone Marrow.

Young Sun Kim, Soo Heum Lim, Jeong Kee Seo, Hyo Seop Ahn, Hyung Ro Moon

¹Dept, of Pediatrics, College of Medicine, Seoul National University

Abstract

A case of Niemann-Pick disease in a 12 year and 6 month old Korean male was reported. The patient showed marked hepatosplenomegaly without neurologic symptoms. Fundoscopic examination revealed a cherry-red spot with white ring in the maculae. Numerous foamy histiocytes and sea-blue histiocytes were seen in the bone marrow. The liver biopsy specimen showed the diffuse ballooning of hepatocytes obliterating the sinusoides as well as collection of large foamy histiocytes. Electron microscopic findings revealed membraneous cytoplasmic bodies containing vacuoles and which were organized with lamellar formation (zebra body). The chest radiographic findings showed reticular formation in the whole lung fields.

Keywords :Niemann-Pick disease; Sea-blue histiocyte; Foamy histiocyte