Sea-blue or ceroid histiocytosis is a storage phenomena associated with a variety of conditions especially abnormal lipid metabolism and particularly hyperlipoproteinemia. It is characterized by histiocytic proliferation in the bone marrow and spleen, contain-ing sea-blue inclusions by Romanovsky stain. The present case is a 1 1/2 year-old Korean boy who had marked enlargement of the spleen which was eventually removed. Aspirates of the bone marrow and histology of the spleen disclosed an enormous proliferation of histiocytes containing numerous cytoplasmic inclusions which stained sea-blue with Wright stain, was strongly positive to PAS and weakly positive to oil red-O and Sudan black B in frozen and in paraffin embedded section. Ultrastructually histiocytes were marked1y hypertrophic and contained numerous cytoplasmic inclusions which showed three distinct types and conglomeration of all three types, presumably representing age or maturation steps of the inclusions. The ear1y type consisted of a high electron dense core or deposits within a low electron dense matrix, evolving into homogeneous moderately electron dense inclusion and finally a well developed finger print-like internal structure. Analysis of the plasma lipid disclosed type IIb hyperlipoproteinemia. Types of hyperlipoproteinemia previously reported in association with sea-blue histiocytosis were type-I, III, IV and V, and this is the first case of type IIb hyperlipoproteinemia.
Child, Preschool ; Human ; Hypercholesterolemia, Familial/complications* ; Hypercholesterolemia, Familial/pathology ; Male ; Sea-Blue Histiocyte Syndrome/complications* ; Sea-Blue Histiocyte Syndrome/pathology ; Spleen/pathology

Niemann-Pick disease (NPD) is an inherited metabolic disorder caused by a deficiency of the enzyme acid sphingomyelinase coded by SMPD1 gene. In contrast with type A NPD, a severe neurodegenerative disease of infancy, type B NPD patients have little or no neurodegeneration, and frequently survive into adulthood. Although over 100 mutations have been found within the SMPD1 gene causing NPD, there was only one report about SMPD1 mutation status of a Korean NPD patient. We report a case of a 32-yr-old female, who presented with thrombocytopenia without any neurologic involvement. Hepatosplenomegaly was detected by both physical examination and imaging studies, and a thoracic radiograph examination showed a pattern of interstitial lung disease. Biochemical tests revealed increased liver enzymes, cholesterol, triglyceride, and LDL-cholesterol, and decreased HDL-cholesterol. Sea-blue or foamy vacuolated histiocytes occurred in bone marrow and liver. Sequencing analysis of SMPD1 using genomic DNA from peripheral leukocytes identified a compound heterozygote of two mutations at exon 2: p.E246K and p.A357V. The former is a known mutation in an Italian patient, and the latter has not been reported yet. She has received oral rosuvastatin to treat hyperlipidemia at a dose of 10 mg per day for 4 months. This is the second report in which the mutation of SMPD1 gene was detected in a Korean NPD patient. The active genetic analysis of SMPD1 gene in patients with typical findings of type B NPD would enable us to facilitate diagnosis as well as to accumulate data on molecular characteristics of Korean NPD patients.
Adult ; Base Sequence ; Bone Marrow Cells/pathology ; Female ; Humans ; Korea ; Liver/pathology ; Niemann-Pick Disease, Type B/*diagnosis/genetics/radiotherapy ; Pregnancy ; Sea-Blue Histiocyte Syndrome/diagnosis/pathology ; Sequence Analysis, DNA ; Sphingomyelin Phosphodiesterase/genetics ; Tomography, X-Ray Computed