We experienced two cases of Gaucher's disease of adult type in brother aged four years and two years. The patients showed hepatosplenomegaly with anemia and thrombocytopenia. Typical Gaucher cells were found in bone marrow and biopsy specimens of liver and spleen through light and electron microscopic examination. Splenectomy was followed by improvement of anemia and thrombocytopenia. A brief review of literature was made.
Adult ; Anemia ; Biopsy ; Bone Marrow ; Gaucher Disease* ; Humans ; Liver ; Siblings* ; Spleen ; Splenectomy ; Thrombocytopenia

BACKGROUND: Development of hematopoietic growth factor made it possible to treat anemia and granulocytopenia following intensive chemotherapy and for thrombocytopenia, recently found thrombopoietin(TPO) is being applied experimentally in several countries. The megakaryocyte colony assay can assess the effect of TPO on the thrombocytopenia resulted from cancer chemotherapy or hematopoietic stem cell transplantation. In vitro colony assay procedures for detecting human erythroid and granulocyte macrophage progenitors have been in widespread use for many years. However, reproducible assay methods for human megakaryocyte progenitors have lagged considerably behind especially in Korea. Duration platelet recovery following transplantation depends on the origin of the hematopoietic cells. Usually thrombocyte recovery is delayed following cord blood stem cell transplantation because of the small amount of cells administered. This study was carried out to investigate and establish the megakaryocyte colony assay of hematopoietic stem cells obtained from the various origin of the hematopoietic stem cells with or without TPO. METHOD: Mononuclear cells of bone marrow, peripheral blood and cord blood were collected following Ficoll density gradient centrifugation and megakaryocyte colony assay was done using MegaCultTM(Stem Cell Tech. Inc., Canada). After liquifying the agarose, mononuclear cells were added and then agarose and cell mixture were dispersed into the two wells of the chamber slide. These slides were incubated for 18~21 days at 37oC, 5% CO2. The megakaryocyte colonies were detected by staining of the cells with a primary antibody to the GPIIb/IIIa antigen, secondary antibody, alkaline phosphatase and Evans Blue in order. Changes of CD34 and GPIIb/IIIa positive cells were also analysed in flask culture using flow cytometry. RESULTS: CD34 positive cells were most abundant in the mononuclear cells of the bone marrow, meanwhile the number of CFU-GM and megakaryocyte colony were greater in the mononuclear cells of the cord blood. After administration of TPO, the cell number of megakaryocyte colony was increased dose dependently, but CFU-GM colony did not show any response to TPO. With flask culture, the cell number was decreased with or without TPO. However adding GM-CSF, IL3 and TPO to cord blood mononuclear cell, the number of the cord blood mononuclear cells was increased on the 5 th day. The amount of CD34 positive cells was increased dose dependently to TPO in one of two cord blood and one peripheral blood. The amount of GPIIb/IIIa positive cells was increased dose dependently to TPO following incubation of all the mononuclear cells. CONCLUSION: This study revealed successful result of megakaryocyte colony assay using MegaCultTM in various kinds of mononuclear cells and suggested that TPO was useful for CFU-mega colony formation. The amount of GPIIb/IIIa positive cells was increased with TPO in the flask culture. Therefore TPO could be useful for assessment of CFU- mega, and could be applied for the in vivo and in vitro expansion of megakaryocytes and platelets.
Agranulocytosis ; Alkaline Phosphatase ; Anemia ; Blood Platelets ; Bone Marrow ; Cell Count ; Centrifugation, Density Gradient ; Cord Blood Stem Cell Transplantation ; Drug Therapy ; Evans Blue ; Fetal Blood ; Ficoll ; Flow Cytometry ; Granulocyte-Macrophage Colony-Stimulating Factor ; Granulocyte-Macrophage Progenitor Cells ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells* ; Humans ; Korea ; Megakaryocyte Progenitor Cells ; Megakaryocytes* ; Sepharose ; Thrombocytopenia

BACKGROUND: Generally hernia is diagnosed with simple chest or gastrointestinal x-ray. Sometimes CT or MRI can give lots of information for the diagnosis. However, there was no study for the differentiation with using CT findings between Morgagni hernia and pleuropericardial fat. The aim of this study was to evaluate the useful CT findings for differentiating Morgagni hernia from pleuropericardial fat. MATERIAL AND METHOD: We retrospectively analyzed CT scans of eight patients with Morgagni hernia and 20 patients with abundant pleuropericardial fat without peridiaphragmatic lesions. All CT scans were performed with coverage of the whole diaphragm in the inspiration state. We evaluated 1) the presence of the defect of the anterior diaphragm, 2) the interface between the lung and fat, 3) the angle between the chest wall and fat, 4) the continuity between the extrapleural fat and fat, 5) the presence of the vessels within fat, and 6) the presence of a thin line surrounding fat. RESULT: In all cases with Morgagni hernia, the defect of the anterior diaphragm was seen. The interface was well-defined, smooth, and convex to the lung. The angle with the chest wall was acute. The continuity with the extrapleural fat was not seen. In the cases with abundant pleuropericardial fat, the defect of the anterior diaphragm was seen in three (15%). The interface was usually irregular (n=10) and flat (n=17). The angle with the chest wall was variable. The continuity with the extrapleural fat, that was markedly increased in amount, was usually seen (n=16). The thin line surrounding fat was seen in four cases with Morgagni hernia, however, not seen in all cases with pleuropericardial fat. All of the above findings were statistically significant, however, vessels within fat was not significant to differentiate Morgagni hernia (n=8/8) from pleuropericardial fat (n=14/20). CONCLUSION: The useful CT findings of Morgagni hernia were fatty mass with sharp margin, convexity toward lung, acute angle with chest wall, and thin line surrounding hernia. Branching structure within fatty mass representing omental vessels that has been known as a characteristic finding of Morgagni hernia was not useful for differentiating Morgagni hernia from pleuropericardial fat.
Diagnosis ; Diaphragm ; Hernia* ; Humans ; Lung ; Magnetic Resonance Imaging ; Retrospective Studies ; Thoracic Wall ; Thorax ; Tomography, X-Ray Computed

To evaluate the usefulness of brain SPECT as a tool with diagnostic and prognostic values m patients with acute cerebral infarction, twenty-four patients who were diagnosed as embolic(n=12) or thrombotic(n7-12) infarction by clinical manifestation and brain CT or MRI were selected. Both 99mTc-HMPAO & 99mTc-DTPA Brain SPECT were performed for each patients within 1 week after the attack Asymmetric index(Al) in both hemispheres was calculated as 200(l(right-left)l/(right+left)). Activities of daily livmg(ADL) was scored by Barthel Index on the admission day and the 21st day after the attack. The relationshiop between ADL index and Al of two types of brain SPECT was analysed by calculating correlation coefficient. 1.In embolic infarction, the Al of 99mTc-DTPA SPECT was markedly higher than that of 99mTc-HMPAO spect, but there was no difference in thrombotic type. 2. The AI of 99m'Tc-DTPA SPECT in embohc infarction was sigiuficantly higher than that m thrombotic type(p valu=.001), but the Al of 99mTc-HMPAO SPECT was similar in both types of infarction. 3.The correlation coefficient Al of 99mTc-DTPA Brain SPECT and ADL m the 21st day after stroke was statistically significated. These results suggested that the 99mTc-DTPA brain SPECT should be useful not only for the differemtial diagnosis between thrombotic and embolic infarctions but also for the prediction of prognosis in patients with ischemic stroke.
Activities of Daily Living ; Brain* ; Cerebral Infarction* ; Diagnosis* ; Humans ; Infarction ; Magnetic Resonance Imaging ; Prognosis* ; Stroke ; Technetium Tc 99m Exametazime ; Technetium Tc 99m Pentetate* ; Tomography, Emission-Computed, Single-Photon*