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We report a neonate who presented with hypotonia, hypoglycemia, and severe lactic acidosis. The patient's acidosis did not respond to bicarbonate replacement and dialysis. Postmortem liver samples revealed portal dilatation, fibrosis, canalicular proliferation, cholestasis, and hepatocellular hemosiderosis. Vacuolization of bone marrow precursors suggested a diagnosis of Pearson syndrome. A common mitochondrial DNA deletion of 4,978 bp was found. We emphasize that Pearson syndrome should be considered in neonates with lactic acidosis despite absence of anemia.

Chronic neutropenia in childhood has many definable causes and thus a clear cause cannot be identified in a large group of patients. Since the committed stem cell is involved in this disorder, growth factors such as granulocyte colony-stimulating factor (G-CSF) may play an important role in the treatment of severely affected children. Because of the side effects and cost, the use of G-CSF should be restricted to a minimum dose. Here we report a child with chronic neutropenia in whom intermittent-low doses of G-CSF were successfully used over a long period.

Idiopathic chronic neutropenia is characterized by a variable pattern of age at the onset of neutropenia, neutrophil counts, maturational arrest at the promyelocyte/myelocyte stage in the bone marrow, and recurrent pyogenic infections without any underlying disease or drug administration. There have been reports of lack of response to conventional-dose steroid therapy, but in recent studies it has been shown that high-dose corticosteroids are effective in several neutropenic states. Here we report an apparent response to high-dose methylprednisolone in a patient with idiopathic chronic neutropenia.

A five-year-old girl was admitted to the hospital with fever and tender lymphadenopathy. She was diagnosed with acute lymphoblastic leukemia (ALL-L3). Because of infection she was given antibiotics and a blood transfusion. Her bone marrow was in remission after 15 days without chemotherapy. This case emphases the role of transfusion and/ or infection in obtaining complete remission without chemotherapy.

Hemophilic pseudotumor is one of the most serious complications of hemophilia and is usually treated with extensive surgery. A new treatment approach is radiotherapy. Patients with long-bone pseudotumors are usually treated with high doses of radiotherapy greater than 1500 cGy. We treated a 13-year-old hemophilic boy who had a pseudotumor of the tibia with low-dose radiotherapy (600 cGy). There was no complication during the two-and-a-half-year follow-up. Improvement of both the clinical and radiological status of the patient was noteworthy. We would like to suggest the use of low-dose radiotherapy in patients with hemophilic pseudotumors.

Platelet function was studied in a child with myelodysplastic syndrome (MDS: refractory anemia with an excess of blasts) and a child with acute myeloblastic leukemia (AML-M6) associated with trilineage myelodysplasia (TMDS). An acquired Bernard-Soulier-like platelet defect was considered in both patients with the findings of prolonged bleeding time and abnormally large platelets that failed to aggregate in response to ristocetin. In contrast to findings in von Willebrand's disease, the abnormal response of platelets to ristocetin could not be corrected by the addition of normal flesh plasma. The detection of abnormal platelet aggregation response to ristocetin may be a useful diagnostic finding for clonal disorders causing impaired platelet function in MDS and coexistent TMDS associated with AML. Further studies of ristocetin-induced platelet aggregation in a large number of these patients are required.

Etoposide is a semi-synthetic, topoisomerase active podophyllotoxin derivative which frequently causes deletions and rearrangements on chromosomes 11q23 and 11q22. It can cause therapy-related, acute myeloblastic leukemia in patients receiving the drug in a schedule-dependent manner. Here we present a case with acute lymphoblastic leukemia who developed secondary acute myeloblastic leukemia 28 months after the beginning of therapy which contained etoposide on an every-other-week schedule.

Autoimmune hemolytic anemia may occur in the course of some viral diseases such as Coxsackie virus, cytomegalovirus, Epstein Barr virus, Influenza A, herpes simplex virus, and rarely hepatitis B virus infection. The role of being heterozygous for beta-thalassemia in hemolysis during acute viral hepatitis is not known. In this report, we present an eight-year-old boy with jaundice and anemia. The diagnosis of hepatitis B virus infection and hemolytic anemia were made on the basis of physical and laboratory findings. A hemoglobin electrophoresis revealed that the child was heterozygous for beta-thalassemia. No specific etiology could be found for hemolytic anemia. It remained unclear whether hemolytic anemia in this patient was merely a coincidental finding or whether hepatitis B virus infection and beta-thalassemia trait had played a role in causing hemolysis.

Kostmann's syndrome is a congenital disorder characterized by impairment of myeloid differentiation in bone marrow with severe absolute neutropenia. A 17-month-old girl was admitted to the hospital with complaints of recurrent skin infections since birth and severe pneumonia of the right lung which had been resistant to antibiotics since the patient was eight months old. Anemia, severe neutropenia and maturational arrest of granulocytes at the myelocyte stage in bone marrow were detected. At the age of 20 months, a right pneumonectomy was performed because of resistant cystic infection. Postoperatively, she was diagnosed with Kostmann's syndrome. Recombinant human granulocyte-colony-stimulating factor (rhG-CSF) was administered intravenously at a dose of 3 micrograms/kg/day, gradually increasing to 60 micrograms/kg/day in sequential seven-day courses to obtain a neutrophil count of more than 500 cells/mm3. Absolute neutrophil counts increased to greater than 1000 cells/mm3 at a dose of 60 micrograms/kg/day, and at that time bone marrow aspiration revealed an increase in neutrophilic granulocytic precursors beyond the myelocyte stage. In order to maintain the neutrophil response, a dose of 20 micrograms/kg/day rhG-CSF subcutaneously was continued successfully. The patient has tolerated rhG-CSF treatment without complications, and infectious attacks have significantly decreased.

A nine-month-old girl with osteomyelitis related to BCG vaccination is presented. The patient did not have any clinical evidence of immunodeficiency. Her X-ray examination showed a lytic lesion of the right tibia and of the left ulna. Histopathological examination of biopsy material revealed a chronic granulomatous inflammatory reaction. She improved with intermittent short course antituberculosis therapy.