Epstein-Barr Encephalitis in a Child with Congenital Human Immunodeficiency Virus Infection: A Case Report Calling for No Forgetfulness.

BACKGROUND: In resource-rich settings, the rate of mother-to-child transmission of human immunodeficiency virus (HIV) has dramatically decreased by virtue of a combination of preventive strategies during the last two decades. CASE PRESENTATION: We present a case of progressive developmental milestone loss in a toddler with previously unknown congenitally acquired human immunodeficiency virus (HIV) infection, complicated by an Epstein-Barr virus (EBV) coinfection. CONCLUSION: Our report underscores the differential diagnosis between HIV encephalopathy and EBV encephalitis and the vertical transmission of the HIV infection, which constitutes an alarming issue in terms of public health.

Screening for coeliac disease in preschool Greek children: the feasibility study of a community-based project.

AIM: Evaluation of the prevalence of coeliac disease (CD) in Greek paediatric population. METHODS: The project consists of two parts: (i) a pilot study of preschool children aged 2-6 years to test the feasibility and diagnostic accuracy of community-based screening and (ii) a CD prevalence study, by random clustered sampling and proportionate stratification of various geographical areas in Greece. Trained nonmedical staff performed a rapid immunochromatographic test to detect IgA antibodies to tTG-IgA and IgA deficiency. Toddlers with positive results were referred to a paediatric gastroenterologist for further assessment with serum anti-tTG IgA and EMA-IgA. Children with positive serum anti-tTG and anti-EMA underwent upper gastrointestinal tract endoscopy and small bowel biopsy and were subsequently in gluten-free diet. RESULTS: In this project participated 1136 toddlers, who were tested at school. The prevalence of positive rapid anti-tTG screening was 1:154, of IgA deficiency 1:120 and of biopsy-proven CD 1:154. The prevalence of CD from this pilot study served as expected prevalence value for sample size calculation for the main prevalence study. CONCLUSION: This protocol using rapid immunochromatographic test for the detection of both IgA deficiency and CD is easy to be performed by nonmedical staff in a community setting, enabling the accurate identification of new CD cases among asymptomatic population.

Four-year evaluation of myocardial and liver iron assessed prospectively with serial MRI scans in young patients with beta-thalassaemia major: comparison between different chelation regimens.

This study was conducted in order to assess myocardial and liver iron concentrations (LICs) using serial magnetic resonance imaging (MRI) scans in patients with beta-thalassaemia major, over a 4-yr period, and consequently to compare the effectiveness of different chelation regimens. Fifty children and young adults with beta-thalassaemia major (27 boys and 23 girls) were recruited (mean age: 14.74 +/- 3.67 yr). All patients underwent detailed clinical examination, electrocardiography, echocardiography, myocardial and liver MRI at the beginning of the study, 2 and 4 yr after. Additionally, serum ferritin levels were regularly measured and data regarding LICs assessed by percutaneous liver biopsy were available in 26 patients. Both myocardial and liver MRI values showed a moderate inverse correlation with age (r = -0.379, P < 0.001 and r = -0.376, P < 0.001, respectively). Liver MRI was better correlated with serum ferritin concentrations (r = -0.342, P < 0.001) than myocardial MRI (r = -0.186, P = 0.011). Liver MRI values were highly correlated with LICs derived from percutaneous liver biopsy (r = -0.863, P < 0.001), whereas myocardial MRI values did not correlate at all with measurements derived from echocardiography. Regarding iron chelation treatment, patients receiving combined therapy with deferiprone and deferoxamine (DFO) significantly reduced myocardial iron overload during the 4-yr study period, whilst patients in monotherapy with DFO showed a significant increase in LIC.

Correlative study of iron accumulation in liver, myocardium, and pituitary assessed with MRI in young thalassemic patients.

Clinical complications resulting from unevenly iron accumulation in individual organs of patients with beta-thalassemia major can affect both expectancy and quality of life. Magnetic resonance imaging (MRI) offers a quantitative, noninvasive, accurate method for estimating iron levels in various tissues, not easily accessible with other techniques. The aim of this study was to evaluate and correlate the level of iron accumulation in different organs (anterior pituitary, myocardium, and liver) assessed with MRI, in children and young adults with beta-thalassemia major. Thirty children and young adults (13 female and 17 male patients) with homozygous beta-thalassemia, treated conventionally, were studied with hepatic, myocardial, and hypophyseal MRI. For liver and myocardium, we calculated the natural logarithm of the signal-to-air ratio in flash 2-dimensional sequences with electrocardiogram gating, whereas for anterior pituitary, the signal intensity was measured in sagittal T2 sequences. All scans were performed within 3 months. In 13 patients, data regarding liver iron concentrations (LIC) assessed by percutaneous liver biopsy were available. The mean of serum ferritin concentrations for 1 year before scans was calculated for each patient. MRI values in myocardium and liver showed a significant negative correlation to age (r=-0.73 and -0.69, respectively). For pituitary MRI, a linear regression with age was recorded in patients over 14 years of age (r=-0.67), whereas a relatively increased signal intensity reduction was recorded in pubertal subjects. Mean serum ferritin concentrations ranged from 252 to 5872 mug/L with an average of 1525+/-1047 mug/L. No statistical significant correlation was noted between mean ferritin levels versus liver, pituitary, and cardiac MRI values (r=-0.49, -0.28, and -0.1, respectively). Mean LIC values assessed by percutaneous biopsy were 13.76+/-11.6 mg/g of dry tissue. A statistically significant negative correlation was observed between liver MRI readings and LIC determined by biopsy (r=-0.89). None of the 3 organs studied with MRI were significantly correlated to each other. Pituitary to liver MRI values and liver to myocardial MRI values were moderately correlated (r=0.34 and 0.42, respectively). Pituitary MRI was not correlated at all to myocardial MRI (r=-0.001). In conclusion, iron accumulation in thalassemic patients is a procedure progressing with age, which seems to act independently in different organs. MRI represents a reliable, noninvasive method for assessing iron overload in various tissues, non-easily accessible with other techniques. Regular scanning, to recognize preclinically excessive iron deposits and intensified chelation therapy, can prevent serious and fatal complications.

Prevalence and severity of liver disease in patients with b thalassemia major. A single-institution fifteen-year experience.

During the last years, liver disease has emerged as a major cause of mortality in patients with b thalassemia major (TM). In spite of its clinical relevance, TM-associated liver damage has been insufficiently characterized. We therefore retrospectively analyzed all TM patients of our Department who underwent liver biopsy since 1990.