ABSTRACT
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.
Subject(s)
Humans , Infant , Male , Autopsy , Bone Marrow , Brain , Dyspnea , Foam Cells , Liver , Lung , Lymph Nodes , Mononuclear Phagocyte System , Niemann-Pick Disease, Type A , Niemann-Pick Diseases , Prunus , Spleen , ThoraxABSTRACT
PURPOSE: The aim of the present study was to assess the clinicopatholgical significance of Bcl-2 oncoprotein expression in childhood non-Hodgkin's lymphoma (NHL). METHODS: We have assessed 16 cases of childhood NHL during last 6 years from 1990 to 1995. Bcl-2 oncoprotein expression has been semiquantitatively analyzed in paraffin sections from 16 cases of childhood NHL with 39 control cases of adult NHL. The expression of Bcl-2 oncoprotein was correlated with histologic grade, immunophenotype, proliferative activity as measured by immunostain of Ki-67 antigen, clinical stage, and survival rate (event free survival rate, EFS). RESULTS: 1) Bcl-2 oncoprotein expression significantly decreased according to increase of histological grade (P0.05). 5) EFS of patients was significantly correlated with Bcl-2 oncoprotein expression, that is, reduced EFS was demonstrated in the patients with low Bcl-2 oncoprotein expression (P<0.05). CONCLUSIONS: Thus Bcl-2 oncoprotein, as demonstrated immunohistochemically in routinely paraffin embedded tissue, can be restrictively used in prediction of prognosis and grade of childhood NHL, in aggrement with the role of Bcl-2 oncoprotein in blocking of apoptosis and indirect contribution to increase of cellular proliferative activity of NHL.
