Alvin M. Mauer

Diphenylhydantoin-induced hypersensitivity reaction

A 2 1/2-year-old girl with phenylketonuria developed a severe hypersensitivity reactioncharacterized by generalized lymphadenopathy, hepatosplenomegaly, exfoliative dermatitis, and fever after a 13 day course of diphenylhydantoin. Evidence for this drug-induced disease being a hypersensitivity reaction of the delayed type is presented in that 10 months after her illness at least a portion of her blood lymphocytes recognized the drug as a previously encountered antigenic substance. An intriguing and unexplained aspect of her illness was the markedly impaired excretion of diphenylhydantoin. Interesting hematologic findings were a striking plasmacytosis of the blood and a mild hemolytic anemia.

The capacity for removal of erythrocytes containing Heinz bodies in premature infants and patients following splenectomy.

The rate of clearance of erythrocytes containing Heinz bodies from blood was studied in 5 normal subjects, 8 premature infants less than 3 weeks old, and 4 patients following splenectomy. Heinz body formation was induced by incubation of erythrocytes with menadione sodium bisulfite. The damaged cells were then injected intravenously and the rate of their disappearance was determined. Clearance was considerably slower in the premature infants, suggesting a decreased capacity for removal, of these damaged cells by the premature reticuloendothelial system. Slower clearance also was found in the four patients following splenectomy.

Treatment of acute leukemia.

A review of existing treatment plans, with emphasis on the side effects of the drugs used and on the treatment of the complications of leukemia.

Pseudotumor of calcaneus in Christmas disease

Hemophilic pseudotumor developed insidiously in an 8-year-old boy with severe factor IX deficiency. Hematomas under pressure produced nearly total cystic destruction of the calcaneus. Anatomic and functional recovery was gradual but complete after a prolonged course of rest and plasma replacement therapy; no recurrence was observed during follow-up exceeding 5 years. Plasma factor IX activity achieved by intensive plasma therapy rarely exceeded 20 per cent of normal. Eight other cases of hemophilic pseudotumor of the calcaneus are reviewed.

Infectious mononucleosis ina child with acute lymphoblastic leukemia

Summary A child is described with acute lymphoblasticleukemia who developed infectious mononucleosis during a remission maintained by 6-mercaptopurine.

Glucose consumption by polymorphonuclear leukocytes in the cerebrospinal fluid of patients with bacterial meningitis

With an autoradiographic method, tritium-labeled glucose was used in order to study the effect of glucose utilization by leukocytes on the cerebrospinal fluid glucose concentration in bacterial meningitis. The uptake of glucose by leukocytes of the cerebrospinal fluid from 7 patients with septic meningitis and leukocytes suspended in the cerebrospinal fluid of 5 controls was determined. There was evidence of increased glucose consumption by the polymorphonuclear cells in all septic cerebrospinal fluids. Decreased glucose concentration in purulent cerebrospinal fluid is caused at least in part by increased glucose consumption by these actively phagocytic cells. Little or no glucose uptake was found in the mononuclear cells except in one patient with pneumococcal meningitis associated with a ventriculojugular shunt for hydrocephalus.

The physiology and clinical significance of haptoglobin

Summary A brief review of the biologic propertiesand functions of a plasma protein, haptoglobin, has been presented. The application of plasma haptoglobin determination to various clinical conditions has been discussed and some of the limitations of this laboratory technique were stressed. There is still much to be learned about the physiology of haptoglobin, especially in the neonatal period and in patients with inflammatory disease. With recognition of its limitations, the measurement of plasma haptoglobin levels can be a useful clinical tool.

Neutrophil function in congenital phosphoglycerate kinase deficiency

Two brothers with combined erythrocyte and leukocyte X-chromosome-liked phosphoglycerate kinase (PGK) deficiency are reported. Contrary to an earlier report of neutrophil dysfunction in this disorder, neutrophil bactericidal function was normal in these patients. The metabolic block in anaerobic glycolysis is bypassed by the 2,3-diphosphoglycerate (2,3-DPG) shunt permitting normal function. The characteristics of neutrophil metabolism and microbicidal activity in this disorder are discussed.

The effect of large intravenous dosesof methotrexate on urinary formiminoglutamic acid excretion

A comparison was made of the effect of small, daily oral doses and large, intermittent intravenous doses of methotrexate (amethopterin) on folic acid metabolism in patients with acute leukemia. The urinary excretion of formiminoglutamic acid was used as a measure of effectiveness in the two treatment regimens. Administration of methotrexate intravenously in a dose of 3 mg. per kilogram body weight was found to produce a brief but profound inhibition of folic acid metabolism as measured by the excretion of formiminoglutamic acid in the urine of patients with acute leukemia.

63 Sex Linked Recessive Hereditary Thrombocytopenia with Immune Globulin Abnormalities. A Form of Wiskott-Aldrich Syndrome?

A family was studied in whom hereditary sex-linked recessive thrombocytopenia was associated with immunologic abnormalities suggestive of relationship to Wiskott-Aldrich syndrome. Twenty-one male and 10 female members of 4 generations were included and 7 thrombocytopenic males found in a sex-linked recessive pattern of inheritance. Platelet counts in affected males ranged from 8,000 to 57,000/mm3. Bleeding symptoms were mild except in one where recurrent epistaxis led to splenectomy at age 17 years. There was no history of eczema or increased susceptibility to infection. In 5 affected members studied isohemagglutinins were either absent or significantly decreased in titer. On immunoglobulin quantitation, increased levels of IgA were found in 4 of 5. IgM and IgG levels were normal in all. In one affected male, lymphocyte response to phytohemagglutinin was tested and found normal. All unaffected members, including carrier females, had normal platelet counts, isohemagglutinins and immunoglobulins. The absence of significant clinical history of infection or eczema may not preclude the diagnosis of Wiskott-Aldrich syndrome. The finding of detectable isohemagglutinin levels in 2 and normal IgA levels in one affected males indicates variability of severity within the family. All patients suspected of having sex-linked recessive thrombocytopenia should be studied for coexistent immunoglobulin defect. (SPR)