Neonatal thrombo-embolism: risk factors, clinical features and outcome.

BACKGROUND: There are few data with respect to prothrombotic risk factors in neonates. AIM: To determine the associated risk factors, clinical features and outcome in newborn infants diagnosed with thrombo-embolism. METHODS: Case records of 25 infants (17 full-term and eight preterm) diagnosed with thrombo-embolism between January 2005 and April 2008 in a neonatal intensive care unit were reviewed. RESULTS: Of the 25 infants, 18 cases of venous (72%) and seven of arterial (28%) thrombo-embolism were recorded; in 18 it was associated with central catheterisation. The sites of thrombosis were portal vein (15), right renal vein (one), right femoral vein (one), multiple veins (one), right femoral artery (3), right iliac artery (2), bilateral iliac and renal arteries (one) and left renal artery (one). Hereditary thrombotic mutations were detected in three patients and anticardiolipin antibody was detected in one, none of whom had been catheterised. The remaining three non-catheterised patients had perinatal risk factors. Venous catheter placement was undertaken in 12 patients (48%), eleven of whom had: umbilical venous catheterisation for exchange transfusion (9), partial exchange transfusion (one) and venous access (one), and one had femoral venous catheterisation for an angiographic study. Arterial catheterisation was undertaken in seven patients (28%) (one infant had both umbilical venous and arterial catheters) for angiographic studies (5) and blood sampling (2). Of the 18 catheterised patients (72%), thrombophilic studies were undertaken in 13 and none had abnormal results. Additional perinatal risk factors were present in 18 patients (72%) and included prematurity (8), congenital heart disease (8), septicaemia (5), dehydration (3), respiratory distress syndrome (3), polycythemia (2), meconium aspiration syndrome (one), pneumonia (one), maternal diabetes (one), necrotising enterocolitis (one) and perinatal asphyxia (one). Although most of the patients recovered after anticoagulant or fibrinolytic therapy, the five (20%) deaths were associated mainly with underlying diseases. CONCLUSION: The most important risk factor for thrombo-embolic events in neonates is placement of central catheters and some perinatal prothrombotic conditions. Nevertheless, hereditary or acquired thrombophilic risk factors may also be a cause of thrombo-embolism.

Congenital malaria: a case report.

Congenital malaria is an uncommon disease even in endemic areas. A 19-day-old female infant with congenital malaria is presented. The mother of the patient was diagnosed to have malaria at the seventh month of gestation and was treated with chloroquine orally for three days. No malarial prophylaxis was given. The infant developed fever, hyperbilirubinemia, anemia and hepatosplenomegaly postnatally. Thin blood smears revealed many Plasmodium vivax parasites. She was treated with oral chloroquine for three days. We emphasize the importance of adequate antenatal medical therapy and prophylaxis during pregnancy.

Budd-Chiari syndrome in a child secondary to membranous obstruction of the hepatic vein treated by percutaneous transluminal angioplasty. Report of a case.

Budd-Chiari syndrome (BCS) due to membranous obstruction of the hepatic vein and the inferior vena cava is rare in children. We report a child with BCS that had a membranous obstruction at the level of the hepatic veins. The web was successfully dilated percutaneously by balloon catheters. Symptoms and signs of obstruction improved without any complication. As percutaneous catheterization is an effective, safe and repatable procedure, we recommend this technique for treatment of children and adults with BCS due to membranous obstruction of the hepatic veins.

Etiology of chronic diarrhea.

With worldwide use of oral rehydration solutions, the treatment of acute diarrhea does not pose much of a problem. However, chronic diarrhea is still harmful, especially for the growth and development status of the children. Between January 1993 to December 1996, patients who suffered from chronic diarrhea for more than one month duration and admitted to Dr. Sami Ulus Children's Hospital were evaluated for epidemiological and etiologic factors. Seventy consecutive patients were evaluated. The mean age was 40.8 months and 52% were males. Malnutrition was detected in 80% of cases. Etiologic factors included celiac disease 30%, cow milk allergy 17%, bacterial and parasitic factors 26%, cystic fibrosis 10% and postinfectious gastroenteritis 10%. Eosinophilic gastroenteritis, chronic nonspecific diarrhea, pseudo-obstruction, neurofibromatosis and inflammatory bowel disease were rarely detected. Celiac disease and cow milk allergy were implicated as the most common causes of chronic diarrhea. The vicious cycle of faulty nutrition, malnutrition and infection and postinfectious enteropathy were also significant factors in the etiology of chronic diarrhea. It may be considered that cow milk protein prick test, sweat test, immunologic tests and mucosal biopsies should be performed for the definite diagnosis of chronic diarrhea.

Evaluation of children with chronic immune thrombocytopenic purpura and Evans syndrome treated with rituximab.

The primary objective was to evaluate the response rate of rituximab therapy for children with chronic immune thrombocytopenic purpura (ITP) and Evans syndrome (ES) and immune reconstitution of these children after rituximab therapy. Eleven patients with chronic ITP and 2 with ES between 6 and 18 years of age and platelet count less than 20 × 10(9)/L received rituximab. Overall response (OR) was defined as an increase in platelet count above 50 × 10(9)/L. The mean age of 13 children (9 girls, 4 boys) was 11.2 ± 3.8 years (6-18). One of the patients with ES had been splenectomized; others were not. The patients mean follow-up time was 10.3 ± 9.3 months after rituximab therapy. Two patients achieved complete response, 4 patients achieved partial response, and OR rate was 46% (6 of 13) after therapy. Seven patients have no response. In conclusion, rituximab may be considered prior to splenectomy in children with chronic ITP and ES with an acceptable toxicity profile.

Complete blood count using VCS (volume, conductivity, light scatter) technology is affected by hyperlipidemia in a child with acute leukemia.

Asparaginase, an effective drug in the treatment of childhood acute lymphoblastic leukemia (ALL), has become an important component of most childhood ALL regimens during the remission induction or intensification phases of treatment. The incidence range of asparaginase-associated lipid abnormalities that are seen in children is 67-72%. Lipemia causes erroneous results, which uses photometric methods to analyze blood samples. We describe a case of l-asparaginase-associated severe hyperlipidemia with complete blood count abnormalities. Complete blood count analysis was performed with Beckman COULTER(®) GEN·S™ system, which uses the Coulter Volume, Conductivity, Scatter technology to probe hydrodynamically focused cells. Although an expected significant inaccuracy in hemoglobin determination occurred starting from a lipid value of 3450 mg/dl, we observed that triglyceride level was 1466 mg/dl. Complete blood count analysis revealed that exceptionally high hemoglobin, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration levels vs. discordant with red blood cell count, mean corpuscular volume, and hematocrit levels. Total leukocyte count altered spontaneously in a wide range, and was checked with blood smear. Platelet count was in expected range (Table 1). Thus, we thought it was a laboratory error, and the patient's follow-up especially for red cell parameters was made by red blood cell and hematocrit values.

Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia.

UNLABELLED: Glanzmann thrombasthenia is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb)beta3. Common clinical manifestations include purpuric type skin bleeding, prolonged bleeding from minor cuts, epistaxis, gingival bleeding and menorrhagia. Less frequently, gastrointestinal system bleeding may occur. Haemarthrosis, haematuria, intracranial and visceral haemorrhage are very rare symptoms. This study reports a 3-y-old girl with Glanzmann thrombasthenia who presented with life-threatening haemothorax. There was no history of recent trauma or drug usage and no vascular or parenchymal abnormalities to explain the development of haemothorax. CONCLUSION: To the authors' knowledge this is the first case of Glanzmann thrombasthenia complicated by spontaneous haemothorax.

Osteopetrosis and Glanzmann's thrombasthenia in a child.

Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial. Osteoblast-osteoclast interaction defects, incorrect differentiation of osteoclasts, abnormal contact between osteoclast and extracellular matrix, and abolished signaling are included in this process. Recently, mutations in the gene of the vacuolar proton pump have been described in some cases of recessive osteopetrosis. Glanzmann's thrombasthenia (GT) is a rare hereditary qualitative platelet disorder characterized by a lifelong bleeding tendency due to quantitative and qualitative abnormalities of the platelet integrin alpha(IIb) beta3. Several mutations on either integrin alpha(IIb) [glycoprotein (GP) IIb] or integrin beta(3) (GP IIIa) were reported in GT. We report on a patient with autosomal recessive osteopetrosis concurrently diagnosed with variant type Glanzmann's thrombasthenia. To our knowledge, our patient was the first case reported in the literature in which osteopetrosis and Glanzmann's thrombasthenia were diagnosed together.

Parvovirus B19 infection reminiscent of myelodysplastic syndrome in three children with chronic hemolytic anemia.

The authors have seen transient pancytopenia with erythroid hypoplasia and striking trilineage myelodysplasia reminiscent of true myelodysplastic syndrome (MDS) in 3 children, 1 with thalassemia intermedia and the other 2 with previously undiagnosed hereditary spherocytosis. In these 3 children transient pancytopenia and myelodysplasia coincided with serological evidence of acute parvovirus-B19 (PV-B19) infection, strongly suggesting their relevance. It is of interest that these 3 cases were encountered within a period of 6 months. This might be an incidental event, but it might also be concluded that acute PV-B19 infection associated transient pancytopenia with morphological appearance of MDS may occur more frequently than reported in the literature. So, PV-B19-associated nonclonal MDS should be considered in the differential diagnosis of true clonal MDS.