Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report.

Leukocyte adhesion deficiency type II (LAD II) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and growth retardation, and impaired wound healing. The Bombay blood group is a rare blood group phenotype that is characterised by the deficiency of H, A, and B antigens on the surface of red cells. LAD II and the Bombay blood group are always seen together, because both of them are associated with a global defect in the common pathway of fucose metabolism.

Constitutional mutations cause familial myelodysplastic syndrome and transient monosomy 7.

Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.

Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.

herg1b expression as a potential specific marker in pediatric acute myeloid leukemia patients with HERG 897K/K genotype.

Human ether-a-go-go related gene (herg) encoding HERG K(+) channel has been demonstrated in many previous studies with its association to cell cycle progression and growth in tumor cells. The upregulated expression of HERG K+ channels was determined in different tumor types. Furthermore, not only full-length transcript herg1 but also a truncated isoform herg1b was shown to be expressed in cancer cells.

Use of urinalysis as a screening tool for asymptomatic infants.

Aim: The utility of screening urinalysis in asymptomatic children has been questioned based on studies done in school-age children or adolescents. The American Academy of Pediatrics (AAP) recommended to abandon this screening in 2007 but many paediatricians perform it at some point during childhood. Thus, we aimed to investigate usefulness of screening urinalysis during infancy.

Infantile hemangiomas, complications and follow-up.

Objective: To study the risk factors for hemangioma-related complications, treatment indications and analyze the outcome of patients with infantile hemangioma.

Design: Retrospective.

Setting: University hospital.

How to manage an unresectable or recurrent sialoblastoma.

Only 2-5% of all salivary gland tumors occur in children. Sialoblastoma is an extremely rare salivary gland tumor diagnosed at birth or shortly thereafter with significant variability in histological range and clinical course, so that it may be difficult to predict the most appropriate therapy. In cases where surgical removal is not curative or technically feasible, chemotherapy may be attempted.

Pediatric acute lymphoblastic leukemia complicated by secondary hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis (HLH) may be familial or secondary to infections, malignancies, metabolic disorders. Infectious causes are mostly viral and EBV is the mostly frequently seen etiologic agent. In this case, we report a child with acute lymphoblastic leukemia (ALL), who had three episodes of secondary HLH, possibly due to two different viral etiologies, namely CMV and RSV together with her malignancy, during her induction-consolidation treatment.

Diffuse thoracic lymphangiomatosis with disseminated intravascular coagulation in a child.

An 8.5-year-old girl who presented with chronic cough and hemoptysis underwent a CT scan of the chest showing diffuse mediastinal and parenchymal infiltration and pleural effusion, and laboratory findings showed disseminated intravascular coagulation. Disseminated lymphangiomatosis was diagnosed after an open-lung biopsy.

Allogeneic versus autologous versus peripheral stem cell transplantation in CR1 pediatric AML patients: a single center experience.

Background: Treatment of childhood acute myelocytic leukemia (AML) in first remission, is still evolving. Allogeneic bone marrow transplantation (BMT) in patients with a donor has been well established, but the role of autologous transplantation remains of interest, particularly in the light of some encouraging results in adults.

Procedure: Out of 81 pediatric patients with AML in first CR, 67 were biologically randomized for allogeneic (n = 31), autologous (n = 20), or peripheral stem cell transplant (n = 16) after completing consolidation treatment, with the remaining (n = 11) dropping out or receiving chemotherapy.

Neuroblastoma: an unusual presentation with bilateral ptosis.

Neuroblastoma, a common tumor of neural crest origin, demonstrates an extremely variable clinical presentation and behavior. Paraspinal tumors may occur anywhere along the spinal column where they may invade the intervertebral foramina and produce cord compression. Cervical involvement may produce Horner's syndrome.

Pulmonary tuberculosis in children with Hodgkin's lymphoma.

The clinical presentation of tuberculosis (TB) and Hodgkin's lymphoma (HL) with pulmonary involvement is similar and raises problems of differential diagnosis. It may also be difficult to distinguish TB from relapsed lymphoma. The purpose of this study was to evaluate the association of HL and pulmonary TB and to discuss differential diagnosis.