[Macrophage activation syndrome in primary human herpes virus-6 infection: a rare condition after liver transplantation in infants].

Human herpes virus-6 primary infection generally occurs during the first three years of childhood and is generally asymptomatic. The virus has been identified as the causal agent of exanthemum subitum in children or mononucleosis-like disease in adults, and may also cause several disorders in immunocompromised patients. We report a clinical case of acute rejection observed 29 days after orthotopic liver transplantation in a 22-month-old child associated with acute hepatitis and a hemophagocytic syndrome on day 38.

Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?

A new megathrombocytopenic syndrome with giant platelets in peripheral blood and severe thrombocytopenia was diagnosed in a 4-month-old boy. His clinical course included repeated hemorrhagic incidents leading to death at age 37 months. Bone marrow ultrastructural analysis revealed numerous dystrophic megakaryocytes with giant membrane complexes.

Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.

Clinical manifestations of hereditary spherocytosis (HS) can be abrogated by splenectomy. However, concerns exist regarding exposure of patients to a lifelong risk for overwhelming infections and, to a lesser extent, to vascular complications after total splenectomy. In the search for alternative treatment modalities, we assessed, in a previous pilot study, the potential usefulness of subtotal splenectomy in a small population of patients.

Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.

We report a case of congenital dyserythropoietic anaemia, type I, with severe pre- and postnatal manifestations. Exchange transfusions were required for fetal anaemia (3.5 g/dl) at 28 and 30 weeks of gestation.

Dyserythropoiesis associated with a fas-deficient condition in childhood.

Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4- CD8- T cells that express the alpha/beta T-cell receptor.

Suppression of CDA II expression in a homozygote.

The CDAN2 gene, responsible for congenital dyserythropoietic anaemia, type II (CDA II), was recently mapped to 20q11.2. We report data on an additional member of a previously studied CDA II family.

The GEN.S: a fortuitous finding of a routine screening test for hereditary spherocytosis.

As part of the evaluation of the GEN.S (Coulter), we compared the Mean Corpuscular Volume (MCV) to the Mean Spherized Corpuscular Volume (MSCV) assessed during the reticulocyte count procedure under hypo-osmotic conditions. A sub-group of patients with hereditary spherocytosis (HS) was singled out: in all of them, the MSCV became smaller than the MCV.

Hematologic involvement in mitochondrial cytopathies in childhood: a retrospective study of bone marrow smears.

We retrospectively analyzed the bone marrow (BM) smears of 10 children with mitochondrial cytopathies. Light microscopic examination showed large and coalescent cytoplasmic vacuolization of some BM precursors in nine cases, including two children with normal peripheral blood counts and four with sideroblastic anemia. BM ultrastructural study showed abnormal mitochondria in the erythroid lineage in all three children studied.

Southeast Asian ovalocytosis in White persons.

We describe two White persons, a girl and her mother, presenting with Southeast Asian ovalocytosis. The child was evaluated for scoliosis. The red cell indices were normal but the cell counter triggered an alarm due to a high fraction of hyperdense red cells.

Myelodysplastic syndromes in childhood: is the FAB classification relevant? Report of 81 children from a French multicentre study. French Group of Cellular Hematology.

We reviewed the peripheral blood and bone marrow smears of 81 children with myelodysplastic syndrome (MDS). The morphological FAB classification was applicable in 59 children (72.8%): RAEB and RAEBt were the most frequent, 32 cases (39.

[Myelodysplasia in children and mitochondrial cytopathies].

Sideroblastic anemia associated with vacuolization of haemopoietic precursors can be observed in some constitutional diseases associated with mitochondrial DNA deletion. In this condition, it is the haematological expression of a multi-tissue disorder. Haemopoiesis is polyclonal, without abnormality of nuclear DNA differing from the acquired idiopathic sideroblastic anemias which arise from a clonal transformed stem cell.

[Myelodysplastic syndromes in children, Groupe d'étude des myélodysplasies de l'enfant de la Société d'hématologie et d'immunologie pédiatrique (SHIP)].

Myelodysplastic syndromes (MDS) in children constitute a heterogeneous disorder, including 'primary' MDS and MDS associated with constitutional abnormalities. The Franco-American-British (FAB) cytological classification for adults can be applied for childhood in 50 to 100% of the cases. The transformation into acute myeloblastic leukemia often occurs, but stabilisation or spontaneous regression of the disease may also be observed.

[Hereditary spherocytosis. Course and value of subtotal splenectomy].

Background: Effectiveness of subtotal splenectomy, a procedure recently advocated as an alternative treatment to total splenectomy for patients with hereditary spherocytosis (HS), has been evaluated.

Methods And Patients: Eighty-eight patients (74 children) with HS were included in this series. Clinical presentations ranged from asymptomatic cases to severe transfusion-dependent forms.

Occurrence of myeloproliferative disorder in patients with Noonan syndrome.

We report four cases of Noonan syndrome associated with chronic myelomonocytic leukemia in childhood. These children shared some hematologic features: thrombocytopenia, splenomegaly in the first months of life, occurrence of chronic myelomonocytic leukemia without abnormalities of the initial bone marrow karyotype, and, in three cases, improvement of the hematologic disease. A common pathophysiologic process in such patients is suggested.

Myelodysplasia in childhood may be a polyclonal disease.

Myelodysplasia in childhood can be associated with constitutional abnormalities. Two main situations can be observed: constitutional diseases such as Down's Syndrome may be the first step of a malignant stem cell transformation leading to monoclonal hematopoiesis. However, in other situations such as mitochondrial cytopathies or other polymalformative syndromes, myelodysplasia may simply be the hematological expression of a multi-tissue constitutional disease.

Myelodysplastic syndromes in childhood: report of 49 patients from a French multicentre study. French Society of Paediatric Haematology and Immunology.

We describe the clinical, cytological and cytogenetic features of 49 cases of myelodysplastic syndromes (MDS) in childhood. Three children had received prior cytotoxic treatment (group 1); all of these had cytogenetic abnormalities and died shortly after diagnosis. 22 children had constitutional anomalies (group 2).

Abnormal chromatin clumping in granulocytes in a case of Ph1-negative, BCR-ABL rearrangement positive, haematologically atypical chronic myeloid leukaemia (CML).

In the present study, we report the case of a patient displaying an abnormal chromatin clumping (ACC) syndrome, a rare disease which shares features with both myeloproliferative and myelodysplastic disorders. Although various non specific cytogenetic abnormalities have been observed in ACC, the presence of a Ph1 chromosome has not been reported. In our patient, despite a lack of Ph1, PCR analysis of blood and bone marrow samples revealed a BCR-ABL rearrangement.

Refractory anaemia and mitochondrial cytopathy in childhood.

We report two cases of childhood myelodysplasia (MDS) related to a mitochondrial (mt) cytopathy that illustrate the difficulty in recognizing such disorders in patients with solely haematological signs. Both patients have refractory anaemia with ring sideroblasts and vacuolization of haemopoietic precursors. These cytological features are similar to those observed in Pearson's disease, recently identified as a mitochondrial disease, and are strongly suggestive of a mitochondrial enzyme defect.

[Myelodysplastic syndromes in children].

Myelodysplastic syndromes are clonal haemopathies known to exist in elderly people where they are classified into 5 categories: refractory anaemia, acquired idiopathic sideroblastic anaemia, refractory anaemia with excess of blasts, refractory anaemia with excess of blasts undergoing acute transformation, and chronic myelomonocytic leukaemia. Transformation into acute leukaemia is frequent. These syndromes seem to be rarer in children, but they are often misdiagnosed.

Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis.

Clinical manifestations of hereditary spherocytosis (HS), the most common red blood cell (RBC) membrane disorder, can be abrogated or markedly reduced by splenectomy. However, concerns regarding risks from overwhelming infections after splenectomy have restricted its use, especially in children. This study was designed to determine if partial splenectomy can decrease the hemolytic rate while maintaining phagocytic function of the spleen.

Acute lymphoblastic leukemia with trisomy 21 constitutional mosaicism.

Acute lymphoblastic leukemia was diagnosed in an 11-year-old girl with mild signs of Down's syndrome. She was known since birth to have a constitutional mosaicism (46,XX/47,XX,+21c). At initial diagnosis of acute leukemia, additional chromosome changes were found in bone marrow blasts: hyperdiploidy > 50, with a structural abnormality.