1. A case of chronic thrombocytopenic purpura has been presented in which the pathogenesis appears to be due to congenital deficiency of a platelet-stimulating factor. 2. The factor exists in normal plasma and is stable on storage under normal blood banking conditions and on freezing. 3. The factor appears to act by stimulating megakaryocyte maturation and platelet production in an orderly and sequential manner.

The case of a patient who, while being treated for an acute myocardial infarction, was found to have Fletcher factor deficiency with a Fletcher factor concentration of less than 1% of normal is described. Fletcher factor deficiency is associated with defects in several interrelated systems, including clotting, fibrinolysis and kinin generation, all of which play a role in the pathogenesis and evolution of infarction. The development of myocardial infarction in a patient who had severe Fletcher factor deficiency emphasizes the importance of alternate pathways for activation of these systems.

A retrospective review of ten patients (8 girls, 2 boys) admitted over a 9-month period with haemophagocytic lymphohistiocytosis (HLH) is presented. Presenting features included fever and hepatosplenomegaly (10), bleeding manifestations (7), lymphadenopathy (4), skin rash (4), shock (4), jaundice (3), CNS disorder (3), renal failure (2) and arthritis (2). Three infants had familial HLH (FHL) while the other seven patients had acquired (secondary) HLH. Two patients with FHL had very low perforin levels (0 and 0.05%). There was secondary HLH owing to systemic onset juvenile idiopathic arthritis in two patients, and one each had anaplastic large cell lymphoma, measles with pneumonia, disseminated tuberculosis, dengue hemorrhagic fever and lymphoproliferative disorder. Cytopenia affecting two or three lineages in peripheral blood was present in all while haemophagocytosis in bone marrow was documented in nine patients .Other important laboratory parameters were raised ferritin (9), raised LDH (9), hypertriglyceridaemia (7) and hypofibrinogenaemia (5). The patients were treated according to the HLH2004 protocol. Diagnosis of HLH should be considered early in patients presenting with unremitting fever, hepatosplenomegaly and cytopenias as without appropriate treatment HLH is usually fatal.

Leukocyte adhesion deficiency type I (LAD-I) is a rare, inherited immunodeficiency with defect in the recruitment of leukocyte to the site of inflammation. Patients with severe LAD-I have absent or markedly reduced expression of CD18 and CD11. Here we report clinical profile of 7 cases of LAD-I diagnosed at our center over a period of 3 years. Recurrent skin and mucous membrane infections were the major presenting manifestations. All children had a history of delayed cord separation.

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X-linked agammaglobulinemia (XLA) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene. While myelodysplastic syndrome (MDS) associated with low B lymphocyte counts has been described, clonal cytogenetic abnormalities in confirmed cases of XLA have never been reported. We describe a case of XLA with a novel Btk mutation who also had a persistent clonal population in the bone marrow with abnormal cytogenetics in multiple chromosomes that resolved 1(1/2) years after treatment with IVIG, mimicking a picture of transient MDS.

The patient was an 11‐year‐old boy with inoperable cerebellar medulloblastoma twice previously treated with radiotherapy. A preterminal comatose stage developed 3 years, 10 months after the tumor was first diagnosed. A remarkable remission occurred after chemotherapy was administered, beginning with vincristine intravenously alternating with cyclophosphamide intravenously weekly. Intrathecal methotrexate was added and all three drugs were continued for 6 months. Then only oral cyclophosphamide was given for an additional 6 months. A fatal relapse occurred one year later and the patient died despite another course of intrathecal methotrexate. Chemotherapy should be administered to any patient with cerebellar medulloblastoma when the tumor persists or recurs after radiotherapy. It would be logical to study the effect of following the initial course of radiotherapy to medullobastomas with chemotherapy. Further research is needed to determine the best chemotherapeutic regime.

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