ABSTRACT
Mononucleosis is defined as atypical lymphocyte proliferation which causes clinical symptoms such as tonsillitis, lymphadenopathy, or hepatosplenomegaly. Mononucleosis syndrome is caused by cytomegalovirus (CMV), Toxoplasma, hepatitis virus, adenovirus, or other agents as well as by Epstein-Barr virus. The syndrome is immunologically characterized by the proliferation of activated T cells (HLA-DR+ T cells). We encountered three infants with hepatosplenomegaly who were diagnosed as primary CMV infection by the detection of anti-CMV IgM antibody. Although the patients were otherwise asymptomatic, analysis of lymphocyte subpopulations showed a decreased ratio of CD4+ to CD8+ T cells and augmented expression of HLA-DR antigen on T cells characteristic of infectious mononucleosis. We conclude that inapparent CMV disease may affect the immunologic status of infected children even if it is asymptomatic.
Subject(s)
Cytomegalovirus Infections/immunology , Hepatomegaly/virology , Lymphocyte Subsets , Lymphoproliferative Disorders/virology , Splenomegaly/virology , Adolescent , Cytomegalovirus Infections/complications , Female , Hepatomegaly/immunology , Herpesvirus 4, Human , Humans , Infant , Male , Splenomegaly/immunologyABSTRACT
A patient with 3-hydroxy-3-methylglutaric aciduria was diagnosed using gas chromatography mass spectrometry. The patient had severe metabolic acidosis, hypoglycemia and hyperammonemia and excreted abnormal amounts of 3-methylglutaconic, 3-hydroxy-3-methylglutaric, 3-methylglutaric, 3-hydroxyisovaleric and glutaric acids in the urine. 3-Hydroxy-3-methylglutaric acid appeared as two peaks on the chromatogram after trimethylsilylation. One was a tri-trimethylsilyl and the other a di-trimethylsilyl derivative. 3-Methylglutaconic acid appeared as three peaks: cis-, trans- and cyclic cis-isomers. The structure of these derivatives was elucidated by deuterium-labeled trimethylsilyl derivatization. The di-trimethylsilyl derivative of 3-hydroxy-3-methylglutaric acid and the cyclic cis-isomer of 3-methylglutaconic acid do not appear to have been previously described. After treatment with leucine restriction milk, the excretion of leucine catabolites decreased but 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids continued to be excreted at abnormally high levels. It is concluded that these two metabolites are necessary for the chemical diagnosis of HMG-CoA lyase deficiency. This patient is the first case of HMG-CoA lyase deficiency to be reported in Japan.