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Evidence shows that psychosocial problems among children and adolescents with asthma interfere with adherence to treatment and therefore need attention in asthma care. It is unknown whether the already frequently implemented asthma-related quality of life (QoL) instruments reflect psychosocial problems in children with asthma. The aim of this study was to assess the relationship between asthma-related QoL and psychosocial problems and to determine whether an asthma-related QoL instrument is able to identify those children and adolescents with asthma with major psychosocial problems. In a multicenter study psychosocial problems (Strengths and Difficulties Questionnaire) and asthma-related QoL (Pediatric Asthma (Caregivers) Quality of Life Questionnaire) were obtained in children and adolescents with asthma aged 6-16 years and their caregivers. A total of 339 children and adolescents (response rate 95%) from four pediatric outpatient clinics in the Netherlands with doctor-diagnosed asthma participated. Of the caregivers, 43% reported major or minor psychosocial problems of their child or adolescent which is two times more than in the reference group, whereas the percentage of adolescents reporting psychosocial problems was comparable to a reference population. Adolescents and caregivers reported few impairments in asthma-related QoL (median score between 6.2 and 7.0). However, an optimal asthma-related QoL did not rule out major psychosocial problems: 10% of the adolescents with an optimal asthma-related QoL score reported major psychosocial problems. And in one out of seven children with an optimal caregiver's asthma-related QoL score, major psychosocial problems were reported. The prevalence of psychosocial problems in children and adolescents with asthma is considerable. Assessment of asthma-related QoL alone is insufficient to identify those children with major psychosocial problems. We recommend the implementation of psychosocial screening, besides assessment of asthma-related QoL, in routine pediatric asthma care, to improve asthma management. [ABSTRACT FROM AUTHOR]

Unlabelled: The microvascular responses to endothelium-dependent vasodilators (e.g., acetylcholine), endothelium-independent vasodilators (e.g., sodium nitroprusside), and to local heating were studied (for the first time) in adolescents with essential hypertension, grouped according to their body mass index. The forearm microvascular reactivities of thirty-three hypertensive adolescents (ten lean, 13 overweight, and ten obese) and 19 healthy controls were assessed by means of laser Doppler flowmetry. Blood levels of enzymatic and nonenzymatic antioxidants and malondialdehyde were determined. The perfusion increments in response to acetylcholine iontophoresis were not significantly attenuated in the patient groups as compared with the controls. Sodium nitroprusside (SNP) iontophoresis resulted in significantly smaller perfusion increments in the lean and obese hypertensives than in the controls (both p < 0.05). Similar responses to local heating (44°C) performed after either acetylcholine or SNP iontophoresis were observed at the respective measurement sites. As compared with the controls, we found elevated ratios of the whole blood oxidized and reduced glutathione in all the patient groups (all p < 0.001), increased erythrocyte catalase activities in the overweight hypertensives (p < 0.05), and decreased ratios of the plasma alpha-tocopherol and triglycerides in the obese hypertensive group (p < 0.05).Conclusion: The endothelium-dependent microvascular reactivity was not significantly attenuated in the hypertensive adolescents in contrast with the impaired endothelium-independent vasorelaxation in the lean and obese hypertensives. [ABSTRACT FROM AUTHOR]

Aortic dissection occurs in Turner syndrome with substantially higher frequency in comparison to the general population, and its prevention is one of the main aims of cardiologic follow-up. Findings of cystic medial necrosis in the aortic wall and a high prevalence of aortic dilation suggest that a form of aortopathy exists in Turner syndrome. However, little is known about natural development of aortic dilation prior to dissection. We present a 16-year-old girl with Turner syndrome with a bicuspid aortic valve, aortic stenosis, and dilation of ascending aorta, who underwent annual echocardiographic examinations from early childhood. Significant progressions of proximal aortic dilation occurred twice at the age of 10 and 15 years. Thereafter, another rapid progression was observed during 8 months and within 3 weeks preceding dissection. Acute aortic dissection was diagnosed while the girl was waiting for elective surgery. She was successfully operated. Frequent estimations of aortic diameter in Turner patients with abnormal findings may help to anticipate this life-threatening event. Additionally, we learned that rapid progression of aortic dilation should lead to immediate surgery to prevent more risky urgent intervention following the dissection. [ABSTRACT FROM AUTHOR]

Chickenpox is often considered more severe during the first year of life, but its course is usually mild during the first 3 months of life, presumably owing to the persistence of maternal antibodies. Hospitalization and intravenous acyclovir therapy are generally restricted to severe cases but also systematically recommended in newborns in France, irrespective of the clinical severity of the infection. This recommendation was launched in 1998 when Varicella zoster virus (VZV)-specific immunoglobulins were not available in the country and has remained unchanged since. The aim of this prospective observational study was to describe complications of varicella infection in a population of 745 children hospitalized for varicella before 1 year of age, with a specific focus on newborns. Complications occurred in 65% of cases. They were very rare before the age of 1 month (10%) but their incidence then increased progressively with age and probably the disappearance of maternal antibodies: 42% (1-2 months), 66% (3-5 months), 70% (6-8 months), and 79% (9-12 months). Conclusion Chickenpox is usually mild in newborns because most of them are protected by VZV maternal antibodies. Unless the absence of maternal VZV immunity is demonstrated, newborns with mild chickenpox should not require antiviral therapy. [ABSTRACT FROM AUTHOR]

Recent studies have described an increase in the incidence of complicated pneumonia in children, primarily caused by Streptococcus pneumoniae. The objective of this study was to determine if the incidence of complicated pneumonias in total and due to different pneumococcal serotypes has changed following the introduction of routine immunization with heptavalent pneumococcal conjugate vaccine (PCV7). A retrospective review of patients admitted to the Stollery Children's Hospital in Edmonton, Alberta with complicated pneumonia between July 1, 1997 and June 30, 2007 (5 years before and after the introduction of PCV7) was completed. There were 34 children in the pre- and 68 in the post-PCV7 era (14.31 and 19.91 per 10,000 discharges, respectively, p = 0.114). Patient characteristics were not significantly different, and pneumococcus was the most common organism isolated (pre: 21% (7/34); post: 26% (18/68), p = 0.515). In patients where serotype data was available, non-vaccine pneumococcal serotypes accounted for 67% (12/18) cases in the post-PVC7 era versus 14% (1/7) in the pre-PCV7 era (p = 0.031). The incidence of non-vaccine serotypes was 0.42 and 3.51 per 10,000 discharges in the pre- and post-PCV7 eras, respectively (p = 0.020). There has been a non-significant trend towards an increase in the incidence of complicated pneumonia following the introduction of PCV7. S. pneumoniae remains the predominant organism identified with non-vaccine serotypes now accounting for almost all cases. Although it is not clear if this increase is attributable to the use of PCV7, expanding pneumococcal serotype coverage has the potential to prevent complicated pneumonia. [ABSTRACT FROM AUTHOR]

Congenital cytomegalovirus infection is the most common cause of nonhereditary sensorineural hearing loss and an important cause of psychomotor retardation. Earlier studies showed that 6-weeks' treatment with ganciclovir, starting in the neonatal period, prevented hearing deterioration at 6 months, but in one-fifth of the infants, the effect was not sustained at age 12 months. The aim of this preliminary retrospective study was to investigate the effectiveness and safety of long-term treatment with ganciclovir/valganciclovir for congenital cytomegalovirus infection. Twenty-three infants with culture-proven symptomatic congenital cytomegalovirus infection were treated with ganciclovir for 6 weeks followed by oral valganciclovir to age 12 months. Audiometry was performed at least three times in the first year, in addition to physical examination including neurological and developmental assessment. At age >or=1 year, hearing was normal in 76% of affected ears compared to baseline (54%). In 25 normal ears at birth no deterioration was found at >or=1 year. These results were significantly better than reported in a historical control group of similar infants treated for 6 weeks only (P= 0.001). Viral load monitoring demonstrated sustained virological response. Four of the children (18%) had mental retardation. The main side effect of treatment was transient neutropenia. In conclusion, prolonged therapy of symptomatic congenital CMV infection with intravenous ganciclovir followed by oral valganciclovir is safe, and it appears to lead to a better auditory outcome than short-term treatment. [ABSTRACT FROM AUTHOR]

Familial Mediterranean fever (FMF) is the most common autoinflammatory disease in the world. The most serious complication of FMF is the development of secondary amyloidosis. Besides genetic factors, environment has been implicated in the development of this complication. The main objective of this study is to analyze whether there has been a substantial decrease of secondary amyloidosis in Turkey and possible effective factors. For this purpose, clinical features of the patients diagnosed with secondary amyloidosis between the years 1978 and 1990 were compared with those diagnosed between 2000 and 2009. Severity scores were determined by the use of a scoring system modified for children. Median ages of the group diagnosed between 1978 and 1990 (n = 115; 12.1% among a total of 947 renal biopsies) and diagnosed after 2000 (n = 19; 2% among a total of 974 renal biopsies) were 12 and 13 years, respectively. There were no significant differences between the two patient groups according to gender, age, age of onset, disease duration, and disease severity. There was, however, a clear decrease in the percentage of biopsies with secondary amyloidosis from 12.1% (1978-1990) to 2% (after 2000; p < 0.001). Our results have shown that there has been a significant decrease in the rate of secondary amyloidosis in Turkey. The main reason for this decrease is better medical care with increased awareness and treatment of the disease. However, we suggest that the improvement of infectious milieu may possibly have had a positive effect on the course of this monogenic disease, since inflammatory pathways related to innate immunity are deregulated. [ABSTRACT FROM AUTHOR]

Since the incidence of shaken baby syndrome in Switzerland was not known, we conducted a nationwide prospective follow-up study for a 5-year period (from 2002 to 2007). The data were collected through the Swiss Pediatric Surveillance Unit. Inclusion criteria were the presence, in a child 6 years or documented accident/disease explaining symptoms/findings. To describe outcome, we used the King's Outcome Scale for Childhood Head Injury (KOSCHI). 56 cases were reported from 13 of 26 Swiss cantons, representing 80% of the Swiss population; 49 cases met the inclusion criteria. Preponderance of male infants was high (31 male and 18 female); median age at admission was 4 months (1-58). Clinical symptoms were present in 42 infants, retinal/vitreous hemorrhages in 39 infants, and pathological brain/head imaging in 46 infants. In 13 cases, the caregivers admitted shaking the child. Outcomes (KOSCHI 1-5; n = 47 patients) were death (KOSCHI 1) 8 (17.7%), vegetative state (KOSCHI 2) 0, severe disability (KOSCHI 3) 11 (22.2%), moderate disability (KOSCHI 4) 14 (31.1%), and good recovery (KOSCHI 5) 14 (28.8%). Based on these data, the incidence of shaken baby syndrome in Switzerland is 14 per 100 000 live births, which corresponds to the incidence in other Western countries. Demographic characteristics and outcomes of Swiss patients were comparable to published studies. [ABSTRACT FROM AUTHOR]

A 12-year-old Japanese boy suffered from severe acute hepatitis and pancytopenia. The patient underwent successful bone marrow transplantation from an HLA-identical sister. Torque teno virus (TTV) DNA of genotype 1a and IgM-class antibody against the virus were detected in sera at the onset of hepatitis. TTV/1a DNA and anti-TTV/1a IgM antibody levels were undetectable on the 16th and 46th days after the onset of illness, respectively. Anti-TTV/1a IgG antibody was positive throughout the observation period. Sequential viral load and anti-TTV/1a IgM antibody suggested a primary infection of TTV/1a. Genomic sequence of the virus coincided with that of the original strain first isolated from human. TTV DNA was quantified at 130 copies in 10(5) bone marrow mononuclear cells, which suggested that infection of hematopoietic cells might be the cause of aplasia. This is the first report of TTV hepatitis-associated aplastic anemia assessed by the anti-TTV antibodies and viral load in peripheral blood and bone marrow. [ABSTRACT FROM AUTHOR]

Acute gastroenteritis is common in childhood. The estimation of the degree of dehydration is essential for management of acute gastroenteritis. Plasma water was assessed as a diagnostic tool in children with acute gastroenteritis and dehydration admitted to hospital. In a prospective cohort study, 101 patients presenting at the emergency department with dehydration were included. Clinical assessment, routine laboratory tests, and plasma water measurement were performed. Plasma water was measured as a percentage of water content using dry weight method. During admission, patients were rehydrated in 12 h. Weight gain at the end of the rehydration period and 2 weeks thereafter was used to determine the percentage of weight loss as a gold standard for the severity of dehydration. Clinical assessment of dehydration was not significantly associated with the percentage of weight loss. Blood urea nitrogen (r = 0.3, p = 0.03), base excess (r =-0.31, p = 0.03), and serum bicarbonate (r = 0.32, p = 0.02) were significantly correlated with the percentage of weight loss. Plasma water did not correlate with the percentage of weight loss. On the basis of the presented data, plasma water should not be used as a diagnostic tool in the assessment of dehydration in children with acute gastroenteritis. [ABSTRACT FROM AUTHOR]

Autosomal recessive severe congenital neutropenia (SCN) results from a maturation arrest of granulopoiesis at the level of promyelocytes and apoptosis of myeloid cells. In SCN patients, mutations have been described in the HAX1 gene. Most of the SCN patients who carry nonsense mutations that are common to both transcript variants of the HAX1 gene also exhibit neurological deficits. This study describes an SCN patient with neurological manifestations including daily episodes of atonic seizures, learning disabilities, and developmental delay. Sequencing of the HAX1 gene of this SCN patient identified a novel nonsense c.463_464insC homozygous mutation in exon 3, which is common to both transcript variants of the gene. This mutation encodes for a p.Gln155ProfsX14 change and causes premature truncation of the HAX1 protein. Neutrophils isolated from the patient exhibited spontaneous apoptosis and loss of inner mitochondrial membrane potential, which were further enhanced upon treatment with hydrogen peroxide. This study adds to the spectrum of novel HAX1 gene mutations and disease manifestations in ethnically distinct SCN patients. Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin. [ABSTRACT FROM AUTHOR]

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine. The activity of proline dipeptidase in fibroblasts was 2.5% of control fibroblasts. Sequence analysis of the PEPD gene revealed a homozygous nonsense C-->G transition at nucleotide 768. In conclusion, prolidase deficiency was diagnosed in siblings with skin ulceration autoantibodies and a lupus-like disease. A novel nonsense mutation was found, associated with the severe outcome of our patients. [ABSTRACT FROM AUTHOR]

Hemolytic-uremic syndrome (HUS) is a leading cause of acute renal failure in childhood. In its typical presentation, it is preceded by an episode of diarrhea mostly due to Shiga-toxin-producing Escherichia coli. There is important geographical variation of many aspects of this syndrome. Nationwide data on childhood HUS in Switzerland have not been available so far. In a prospective national study through the Swiss Pediatric Surveillance Unit 114 cases (median age 21 months, 50% boys) were reported between April 1997 and March 2003 by 38 pediatric units (annual incidence 1.42 per 10(5) children < or =16 years). Shiga-toxin-producing E. coli were isolated in 32 (60%) of tested stool samples, serotype O157:H7 in eight. Sixteen children presented with only minimal renal involvement, including three with underlying urinary tract infection. Six patients presented with atypical hemolytic-uremic syndrome, and six with HUS due to invasive Streptococcus pneumoniae infection. Mortality was 5.3%, including two out of six children with S. pneumoniae infection. The severity of thrombocytopenia and the presence of central nervous system involvement significantly correlated with mortality. In conclusion, childhood HUS is not rare in Switzerland. Contrasting other countries, E. coli O157:H7 play only a minor role in the etiology. Incomplete manifestation is not uncommon. [ABSTRACT FROM AUTHOR]

Behçet disease is the only primary vasculitis that affects both arteries and veins of any size. We present our treatment protocol in disease with vascular involvement in seven pediatric patients. All seven patients met the international criteria for the disease before the age of 16 years. Only one was a girl. The vascular involvement was as follows: Two patients had superficial vein thrombosis, two patients had atrial or ventricular thrombosis, one had arterial involvement with pulmonary aneurysms, and two had thrombosis of the venous sinuses in the central nervous system. The median duration of vascular involvement was 4 months (range 3-24 months) after the diagnosis of BD and was concomitant with diagnosis in three patients. All received colchicine and steroids. The ones with thrombosis in the venous system received additional azathioprine, whereas those with pulmonary arterial or cardiac involvement initially received cyclophosphamide for 150-180 mg/kg total dose (IV or oral) and then were switched to azathioprine for a further 6 months. All except the patient with pulmonary arterial involvement received a course of anticoagulation treatment as well. These patients have been followed up for a period of at least 18 months and so far are free of vascular relapses. One has developed a severe uveitis necessitating further therapy. In conclusion, features of vascular involvement should be carefully sought for in patients with Behçet disease. Effective management has enabled disease-free survival in the presented patients. [ABSTRACT FROM AUTHOR]

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies ( Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1–S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<−3 SD) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of IGF-1. A de novo 10.3-Mb duplication of 7q34–q35 and an 8.8-Mb deletion on 7q36 were identified in this patient. The Homeobox HLXB9 (CS) gene is contained within the deletion accounting for the CS phenotype including microcephaly. The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and mental retardation syndrome (OMIM no. 608747) are discussed. To the best of our knowledge, this is the first reported case of a patient with distal 7q chromosomal imbalance and features of CS triad (including microcephaly) and the first documented case of a patient with normal gyration pattern microcephaly. The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency. [ABSTRACT FROM AUTHOR]

Mycobacterium interjectum is a rare causative agent of cervical lymphadenitis. We describe a 2-year-old girl with suspected tuberculous cervical lymphadenitis.Sequencing of the 16S rRNA gene allowed the correct identification of Mycobacterium interjectum. As yet, only nine case reports of infections due to M. interjectum in children have been reported in the literature, and in all of them a correct identification could only be obtained using gene sequencing. [ABSTRACT FROM AUTHOR]

The skin and the central nervous system are tissues of common ectodermal origin and share a close ontogenetic relationship. Genetic diseases primarily affecting both organ systems are regularly encountered in both dermatological and neurological settings. Here, we report on a boy with epileptic encephalopathy, severe intellectual disability, optic atrophy, and progressive cerebellar and supratentorial atrophy, reminiscent of progressive encephalopathy with edema and hypsarrythmia (PEHO) syndrome displaying a previously undescribed dyschromatosis in the form of progressive reticulate and mottled hyper- and hypopigmentation of the neck and the inguinal and axillary regions. We hypothesised that this combination of neurological and cutaneous findings has a common aetiology and represents a novel recognisable entity. Because of the unusual dermatological findings, we suggest the term dyschromatosis ptychotropica. Recognition of further cases may help elucidate the aetiology of this condition and give insight into the pathophysiology of both pigmentation disorders and epileptic encephalopathies. [ABSTRACT FROM AUTHOR]

The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2-44 months). [ABSTRACT FROM AUTHOR]

Opsoclonus-myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants. Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae and opsoclonus-myoclonus-ataxia syndrome is not well established so far. We present three cases with opsoclonus-myoclonus-ataxia syndrome in adolescents following an infection with M. pneumoniae. Monophasic disease course and full recovery correspond to the favorable prognosis known from parainfectious cases in young adults. This should affect therapeutic consideration. OMS should be added to the spectrum of M. pneumoniae-associated neurologic complications. Nevertheless, neuroblastoma has to be ruled out in all cases of OMS. [ABSTRACT FROM AUTHOR]

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment. [ABSTRACT FROM AUTHOR]

Background: The obesity epidemic in developed countries has led to an increased prevalence of obese women of reproductive age. As maternal obesity has far-reaching consequences for both mother and child, the consensus is that weight loss before pregnancy will reduce obesity-related morbidity and mortality. Therefore, an increasing number of women become pregnant after undergoing obesity surgery.Results and Discussion: From the literature, data shows that perinatal outcome after bariatric surgery is generally considered as favourable for both mother and child. Only a few case reports highlight the possibility of side effects on the foetus and neonate. We report on five cases with severe intracranial bleeding, all possibly related to vitamin K deficiency following maternal bariatric surgery.Conclusion: These reports indicate that careful nutritional follow-up during pregnancy after obesity surgery is mandatory, because nutritional deficiencies such as vitamin K deficiency can lead to life-threatening bleeding. [ABSTRACT FROM AUTHOR]

The aims of this study were to assess the incidence and risk factors of major central venous catheter (CVC)-related complications in a large cohort of children affected by oncological, hematological, or immunological diseases in a 7-year prospective observational study at a single center. Nine hundred fifteen CVCs were inserted in 748 children for a total period of 307,846 CVC-days. Overall, 298 complications were documented with a complication rate of 0.97/1,000 CVC-days: 105 mechanical complications (dislocations 0.30/1,000 CVC-days, ruptures 0.04/1,000 CVC-days), 174 infections (bloodstream infections 0.46/1,000 CVC-days, tunnel infections 0.10/1,000 CVC-days), and 19 thrombosis (0.06/1,000 CVC-days). Significant risk factors were: diagnosis of acute lymphoblastic leukemia (ALL) and age

Meckel's diverticulum (MD) has varied clinical manifestations and is a diagnostic challenge for pediatricians. This study investigates the clinical and diagnostic characteristics of MD in children with different presentations. We retrospectively reviewed the medical records of pediatric patients diagnosed with MD from 1988 to 2008. The data including the age, sex, clinical features, laboratory data, sensitivity of diagnostic methods, and pathological finding were recorded. These patients were classified into three groups: diverticulitis, intestinal obstruction, and intestinal bleeding. A total of 47 children (35 boys and 12 girls) with a median age of 5.6 years were enrolled and categorized as follows: diverticulitis (n = 12), obstruction (n = 12), bleeding (n = 21), and two diagnosed incidentally. Patients with intestinal obstruction were significantly younger than those with bleeding (3.7, 95% CI, 1.6-5.7 vs. 6.6, 95% CI, 4.5-8.7, P = 0.04). In the obstruction group, intussusception was found in eight of 12 patients, of whom 62.5% were aged older than 3 years. Heterotopic tissues were found in 46.3% of surgical specimens and more frequently existed in patients with bleeding than those with diverticulitis (P = 0.02) and obstruction (P = 0.047). Tc-99m scans yielded a diagnostic sensitivity of about 65% in bleeding patients. Repeated Tc-99m scans and red blood cell (RBC) scans can be good supplementary tools in Tc-99m scan-negative bleeding patients. In conclusion, manifestations of childhood MD are variable and may depend on the presence of heterotopic tissues and the patients' age. Tc-99m scans supplemented with RBC scans are appropriate to diagnose childhood MD with bleeding. [ABSTRACT FROM AUTHOR]

Introduction: The clinical manifestations and risk factors for developing coronary artery abnormalities (CAA) in Kawasaki disease (KD) might differ depending on age.Materials and Methods: From January 2001 to July 2007, 161 patients with an age younger than 1 year (younger group) and 60 patients with an age older than 5 years (older group) were diagnosed with KD at the Korea University Medical Center. Their medical records were reviewed retrospectively and the two groups were compared in terms of a number of variables commonly associated with the development of CAA, including clinical manifestations and laboratory findings.Results: While the overall incidence of KD-associated CAA in our hospital was 6.7%, CAA developed in 20 (12.4%) of the younger group and ten (16.7%) of the older group, respectively. The CAA (+) cases of the younger group had a longer duration of total fever (9.1 +/- 3.3 vs 6.3 +/- 1.9 days, p = 0.002) and showed fewer diagnostic symptoms (3.0 +/- 1.2 vs 4.3 +/- 1.1, p < 0.001) than the CAA (-) cases. The CAA (+) cases of the older group had a longer duration of total fever (14.1 +/- 10.4 vs 6.5 +/- 1.9 days, p = 0.045), especially with respect to post-intravenous gamma globulin (IVGG) fever (7.9 +/- 9.6 vs 1.1 +/- 0.8 days, p = 0.052), and had higher total white blood cell counts, erythrocyte sedimentation rates, C-reactive protein levels, total bilirubin levels, and Harada scores and lower serum albumin and sodium levels than the CAA (-) cases. Multivariable logistic regression analysis revealed that the factors that were associated significantly with the development of CAA were the number of total symptoms (OR = 0.494, 95% confidence interval (CI) = 0.281-0.871, p = 0.015) in the younger group and the duration of post-IVGG fever (OR = 1.958, 95% CI = 1.098-3.492, p = 0.023) and the Harada score (OR = 3.455, 95% CI = 1.012-11.796, p = 0.048) in the older group.Conclusion: Incomplete clinical manifestations in the younger group and IVGG nonresponsiveness in the older group are associated with the development of KD-associated CAA. These age-specific characteristics could aid the customization of the diagnostic and therapeutic strategies of KD, thereby helping to improve the outcome of this disease. [ABSTRACT FROM AUTHOR]

This study aims to identify risk factors for cardiovascular disorders in schoolchildren living in Ouro Preto City, Brazil. A cross-sectional study was carried out in a population-based sampling of schoolchildren (6-14 years old), randomly selected and stratified by the proportion of students according to age and gender in each schools of the city. Biochemical, clinical and anthropometric variables as well as physical activity and family history were used in a logistic regression model for obesity or arterial hypertension. Out of 780 schoolchildren sampled, the risk of obesity was greater in subjects presenting high triglyceride and low high density lipoprotein-cholesterol levels, and those whose parents were obese, while the risk of hypertension was high in obese subjects and those who presented low birth weight. It was observed that 44.4% of the schoolchildren were exposed to two or three cardiovascular disease (CVD) risk factors and 8.2% were exposed to four or six factors. These findings should be considered in preventive measures to reduce the future risk for CVD among schoolchildren in Brazil. [ABSTRACT FROM AUTHOR]

We report a preterm neonate with congenital cytomegalovirus (CMV) infection associated with severe lung involvement progressing to early chronic lung disease (CLD) and death. The present case represents the earliest and the most severe lung involvement depending on recurrent maternal CMV infection reported in the literature. Neonatal mortality and progression to early CLD should be considered in the list of possible neonatal sequelae resulting from recurrent maternal CMV infection. [ABSTRACT FROM AUTHOR]

Introduction: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A).Materials and Methods: HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.Results and Discussion: Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.Conclusion: The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother. [ABSTRACT FROM AUTHOR]

Acute retinal necrosis (ARN), which is characterized by rapidly progressing peripheral retinal necrosis, is caused mainly by herpes simplex virus type 1, herpes simplex virus type 2 (HSV-2), or varicella-zoster virus. A previously healthy 3-year-old Japanese boy developed ARN in his left eye after being bruised by a milk container. HSV-2 DNA was detected in the aqueous humor of the affected eye. Serological testing suggested that the route of infection was from mother to child, although there was no past history of apparent HSV-2 infection. Childhood ARN has not been previously reported in Japan, possibly because of the low seroprevalence of HSV-2 in Japanese women. Pediatricians must be aware of this rare disease, which can affect individuals without a previous history of HSV even in a country with a low seroprevalence of HSV-2. [ABSTRACT FROM AUTHOR]

Restrictive dermopathy (RD) is a rare, fatal, and genetically heterogeneous laminopathy with a predominant autosomal recessive heredity pattern. The phenotype can be caused by mutations in either LMNA (primary laminopathy) or ZMPSTE24 (secondary laminopathy) genes but mostly by homozygous or compound heterozygous ZMPSTE24 mutations. Clinicopathologic findings are unique, allowing a specific diagnosis in most cases. We describe a premature newborn girl of non-consanguineous parents who presented a rigid, translucent and tightly adherent skin, dysmorphic facies, multiple joint contractures and radiological abnormalities. The overall clinical, radiological, histological, and ultrastructural features were typical of restrictive dermopathy. Molecular genetic analysis revealed a homozygous ZMPSTE24 mutation (c.1085_1086insT). Parents and sister were heterozygous asymptomatic carriers. We conclude that RD is a relatively easy and consistent clinical and pathological diagnosis. Despite recent advances in our understanding of RD, the pathogenetic mechanisms of the disease are not entirely clarified. Recognition of RD and molecular genetic diagnosis are important to define the prognosis of an affected child and for recommending genetic counseling to affected families. However, the outcome for a live born patient in the neonatal period is always fatal. [ABSTRACT FROM AUTHOR]

Unlabelled: Hypernatraemic dehydration, which predominantly appears in breastfed neonates, can cause serious complications, such as convulsions, permanent brain damage and death, if recognised late. Weight loss > or = 10% of birth weight could be an early indicator for this condition. In this prospective cohort study from October 2003 to June 2005 in the postnatal ward of the University Hospital Zurich, Switzerland, all term newborns with birth weight > or = 2,500 g were weighed daily until discharge. When the weight loss was > or = 10% of birth weight, serum sodium was measured from a heel prick. Infants with moderate hypernatraemia (serum sodium = 146-149 mmol/l) were fed supplementary formula milk or maltodextrose 10%. Infants with severe hypernatraemia (serum sodium > or = 150 mmol/l) were admitted to the neonatal unit and treated in the same way, with or without intravenous fluids, depending on the severity of the clinical signs of dehydration. A total of 2,788 breastfed healthy term newborns were enrolled. Sixty-seven (2.4%) newborns had a weight loss > or = 10% of birth weight; 24 (36%) of these had moderate and 18 (27%) severe hypernatraemia. Infants born by caesarean section had a 3.4 times higher risk for hypernatraemia than those born vaginally. All newborns regained weight 24 h after additional fluids.Conclusion: In our study, one out of 66 healthy exclusively breastfed term neonates developed hypernatraemic dehydration. Daily weight monitoring and supplemental fluids in the presence of weight loss > or = 10% of birth weight allows early detection and intervention, thereby preventing the severe sequellae of hypernatraemic dehydration. [ABSTRACT FROM AUTHOR]

Unlabelled: This is a comparative study between 60 asphyxiated newborns (cases) and 60 normal neonates (controls) in respect of their plasma glucose and uric acid levels and also their clinical and neurological status. The mean plasma glucose level was significantly lower (35.1 +/- 11.4 mg/dl vs. 56.9 +/- 5.5 mg/dl; P < 0.001) and the mean serum uric acid level was higher (8.0 +/- 1.2 mg/dl vs. 4.5 +/- 0.83 mg/dl; P < 0.001) in the asphyxiated group when compared to the controls. Within the perinatal asphyxia group, the plasma glucose level and Apgar scores showed a significant positive linear correlation (r = 0.740, P < 0.001), whereas a significant negative linear correlation was observed between the glucose level and different stages of hypoxic ischemic encephalopathy (HIE) (r = -0.875, P < 0.001). Although a strong positive linear correlation was found between uric acid and HIE stages (r = 0.734, P < or = 0.001), the linear correlation between uric acid and Apgar scores (r = -0.885, P < 0.001) and uric acid and the plasma glucose level (r = -0.725, P < 0.001) were found to be significantly negative among the cases.Conclusion: The severity of encephalopathy and cellular damage varies with the severity of hypoglycemia. [ABSTRACT FROM AUTHOR]

Introduction: Reduced concentrations of glucose-6-phospate dehydrogenase (G6PD) render erythrocytes susceptible to hemolysis under conditions of oxidative stress. In favism, the ingestion of fava beans induces an oxidative stress to erythrocytes, leading to acute hemolysis.Discussion: The simultaneous occurrence of methemoglobinemia has been reported only scarcely, despite the fact that both phenomena are the consequence of a common pathophysiologic mechanism. The presence of methemoglobinemia has important diagnostic and therapeutic consequences. We report a previously healthy boy who presented with combined severe hemolytic anemia and cyanosis due to methemoglobinemia, following the ingestion of fava beans. His condition was complicated by the development of transient acute renal failure. A G6PD-deficiency was diagnosed. We review the literature on the combination of acute hemolysis and methemoglobinemia in favism. Pathophysiologic, diagnostic, and therapeutic aspects of this disorder are discussed. [ABSTRACT FROM AUTHOR]

Introduction: Congenital long-QT syndrome (LQTS) is a sporadic or familial inherited arrhythmia. It can lead to sudden death by ventricular fibrillation which occurs at any age but particularly during infancy. Recent studies of postmortem molecular analysis in infants who died of unexplained sudden infant death syndrome (SIDS) showed abnormal mutations to LQTS in 10% to 12%. Current methods of etiologic investigation of sudden infant death syndrome do not allow the diagnosis of LQTS. A targeted anamnesis together with systematic electrocardiograms of first- and second-degree relatives could be an efficient LQTS diagnostic tool. Therefore, we propose to include them in screening procedures for SIDS etiologies.Conclusion: LQTS accounts for a significant number of unexplained SIDS. We suggest adding a systematic familial electrocardiographic screening to the current etiologic investigations in order to track congenital LQTS in relatives. [ABSTRACT FROM AUTHOR]

To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada. From 1999 to 2007, 63 cases, ranging in age from 11 months to 40 years, were registered. All registered cases were diagnosed with PDS by their physicians using clinical criteria. Seventy percent of the cases presented with neonatal seizures, and the mean lag time between presentation and diagnosis was 313 days. Pyridoxine treatment regimens were varied, ranging from 50 to 2,500 mg per day (1.4 to 67.8 mg/kg/day). While 47 of the cases were seizure-free on pyridoxine monotherapy, over time, eight other cases also required the concomitant use of anticonvulsants for effective seizure control, while the remainder continued to have recurrent seizures, despite the use of pyridoxine and multiple anticonvulsants. Our review of this collection of cases suggests that, for some registered individuals, either pyridoxine may be acting as an adjunctive anticonvulsant or the patient may have developed a secondary etiology for seizures. In addition, some of these cases may have pyridoxine-responsive seizures (PRS) rather than pyridoxine-dependency. Four adult and seven school-aged cases were described as developmentally normal, while the other cases had a variety of neurodevelopmental handicaps. Twenty-five percent of the cases required the pharmacologic treatment of behavioral symptoms. Clinicians caring for neonates and other young patients with intractable seizures do not necessarily consider PDS as an etiology; therefore, certain cases may be undiagnosed or diagnosed late in the course of their evaluation and treatment. As the diagnosis of PDS can now be confirmed by genetic and biochemical testing, formal screening protocols for this disorder should be developed. Patients previously diagnosed with PDS by clinical criteria should also receive confirmatory testing. [ABSTRACT FROM AUTHOR]

Ebstein's anomaly is a rare, congenital cardiac anomaly that may result in cyanosis, right heart failure, and tachyarrhythmia during the newborn stage or after adolescence. This study investigated the data of 77 patients diagnosed between 1980 and 2006 at a tertiary care center in Taiwan. Patients were grouped into either an early group or a late group. Survival declined rapidly within the newborn stage in the early group, but declined only during the third decade in the late group. Surgical results were poor (20% success rate) for neonatal systemic-to-pulmonary shunts in those cases with associated pulmonary atresia, but were satisfactory for other surgical modes. Supraventricular tachyarrhythmia occurred in 31 (41%) patients at a median age of 10 years and could be eliminated by radiofrequency ablation (81% success rate), though the recurrence rate was high (41%). In conclusion, other than those cases requiring shunts at the newborn stage, the long-term outcome was favorable. [ABSTRACT FROM AUTHOR]

A 13-month-old Japanese female with Haemophilus influenzae type b meningitis presented with unusually severe septic shock and cerebral infarction in half a day of fever. The initial therapy of plasma-derived activated protein C (Anact C) led to an impressive effect on the aggressive condition. However, purpura fulminans and the consistent decline of plasma protein C activity (<20%) required prolonged activated protein C therapy and gene analysis. The patient carried a novel heterozygous mutation of PROC (exon 4; 335 GAC>TAC, Asp46Tyr). This is the first report of infectious purpura fulminans in a protein C-deficient heterozygote. The clinical onset and treatment course adequately corroborated the aggravated immune/hemostatic reactions and the cytoprotective effects of activated protein C replacement in human heterozygous protein C deficiency. The monitoring of plasma protein C activity and sufficient administration of activated protein C product could improve the outcome of severe sepsis in children. [ABSTRACT FROM AUTHOR]

We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. The patient presented soon after birth with respiratory distress requiring long-term mechanical ventilation, bone and chest deformities, feeding problems, and hypotonia. He had hypercalcaemia, hypophosphataemia, and hyperparathyroidism. There was no known history of calcium metabolism disorders in the family. As the impact on calcaemia of a rescue therapy with bisphosphonates was only transient, a subtotal and subsequently total parathyroidectomy were performed in the fourth month of life. Afterwards his clinical status improved and the fractures healed, but his neuropsychological development is delayed due to cerebral atrophy. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy. [ABSTRACT FROM AUTHOR]

Children with Down's syndrome (DS)-associated complete atrioventricular septal defect (AVSD) have rapid and aggressive development of pulmonary vascular disease when compared with non-Down's syndrome (ND) children. We aimed to evaluate the role of plasma endothelin-1 (ET-1) and nitrate levels in DS children with complete AVSD-associated pulmonary hypertension (PH) and compare this to ND patients. The study included 20 patients (11 males, nine females) who had complete AVSD associated with PH. Comparisons were made between DS patients (n=12) aged 4 to 8 months (median 5 months) and ND patients (n=8) aged 4 to 12 months (median 7 months). Blood samples were drawn from the inferior vena cava, pulmonary artery, pulmonary vein, and aorta. The plasma ET-1 concentrations of the two groups were compared to the peripheral venous and arterial ET-1 levels, and pulmonary vein nitrate was compared to the peripheral arterial nitrate levels of ten healthy infants. The mean pulmonary artery (PA) pressure and pulmonary vascular resistance (Rp) were significantly higher in the DS group than ND patients, and the pulmonary blood flow (Qp) in ND patients was higher than DS patients. There were no differences between the two study groups in regard to plasma ET-1 and nitrate levels obtained from matched sampling sites. The plasma ET-1 and nitrate levels were significantly higher in both study groups compared to the control subjects. The plasma ET-1 and nitrate levels in DS patients with PH were not different when compared to those of ND patients. [ABSTRACT FROM AUTHOR]

Gastric malrotation is defined as a torsion of stomach around its short or long axis. It is a rare disease in childhood. Gastric malrotation may present either as a surgical emergency or as chronic abdominal symptoms. There is limited data about the respiratory symptoms associated with gastric malrotation. The aim of this study was to review the records of 14 children who presented with respiratory symptoms and diagnosed as gastric organo-axial malrotation. Between August 2005 and August 2007, 14 children diagnosed as having gastric organo-axial malrotation participated in this study. There were 11 boys and three girls with a mean age of 7.1 months. All patients were symptomatic. Presenting symptoms included wheezing in four patients, recurrent pneumonia in four, chronic cough in two, chronic cough and apnea in two, recurrent pneumonia and chronic cough in one, and chronic cough and failure to thrive in one. All of our patients had organo-axial gastric malrotation. Gastroesophageal reflux was found in nine patients (64.2%). Six patients were treated with surgery and antireflux medication and the remaining eight patients with antireflux medication. In conclusion, it is probable that gastric malrotation associated with massive or occult gastroesophageal reflux could be responsible for the respiratory symptoms such as chronic cough, recurrent pneumonia, wheezing, and apnea. [ABSTRACT FROM AUTHOR]

A 10-year-old boy with hepatitis C had granulomatous hepatitis (GH) at initial liver biopsy. He also had enlarged perihepatic lymph nodes and smooth muscle antibody (SMA) positivity. GH is a rare finding in hepatitis C virus (HCV) infection. Our patient is special since GH secondary to HCV infection was associated with both autoantibodies and multiple intraabdominal lymphadenopathies. After interferon (IFN) and ribavirin therapy, HCV RNA became negative, along with the resolution of hepatic granulomas (HG), lymphadenopathies, and SMA positivity. Although early virologic response was not achieved under IFN treatment, the therapy period was extended, contrary to routine practice, and resulted in a delayed response. We conclude that the usage of IFN for longer periods in GH-associated HCV infection might be promising. [ABSTRACT FROM AUTHOR]

The triple A syndrome is a rare autosomal recessive disease that is characterised by the triad of adrenocorticotropin (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. In most patients, neurological and dermatological abnormalities are associated features. We report on the first Bosnian patient with triple A syndrome. Endocrine investigation confirmed primary adrenal insufficiency at the age of 5.8 years. Two months later, achalasia was diagnosed, and in the presence of alacrima, the patient satisfies the diagnostic criteria of triple A syndrome. In addition, a large number of associated neurological and dermatological features were present in this patient. Moreover, he has dysmorphic facial features, which have not been previously described in triple A syndrome. Triple A syndrome was confirmed by molecular analysis, revealing a nonsense mutation p.W84X in the AAAS gene. The parents are both heterozygous carriers of the mutation. The affected twin brother unfortunately died from hypoglycaemic shock, despite a normal cortisol rise in an ACTH stimulation test. Further, triple A syndrome patients carrying the identical homozygous p.W84X mutation have to be studied to assess a genotype-phenotype relationship for this mutation. [ABSTRACT FROM AUTHOR]

The etiology of secretory diarrhea in early life is often unclear. We report a Japanese boy who survived until 3 years of age, despite intractable diarrhea commencing soon after birth. The fecal sodium content was strikingly high (109 mmol/L [normal range, 27-35 mmol/L]) and the osmotic gap was decreased (15 mOsm/kg), consistent with the findings of congenital sodium diarrhea. We examined the mitochondrial respiratory chain function by blue native polyacrylamide gel electrophoresis (BN-PAGE) in-gel enzyme staining, BN-PAGE western blotting, respiratory chain enzyme activity assay, and immunohistochemistry. Liver respiratory chain complex (Co) I activity was undetectable, while other respiratory chain complex activities were increased (Co II, 138%; Co III, 153%; Co IV, 126% versus respective control activities). Liver BN-PAGE in-gel enzyme staining and western blotting showed an extremely weak complex I band, while immunohistochemistry showed extremely weak staining for the 30-kDa subunit of complex I, but normal staining for the 70-kDa subunit of complex II. The patient was, therefore, diagnosed with complex I deficiency. The overall complex I activity of the jejunum was substantially decreased (63% of the control activity). The immunohistochemistry displayed apparently decreased staining of the 30-kDa complex I subunit, together with a slightly enhanced staining of the 70-kDa complex II subunit in intestinal epithelial cells. These data imply that intestinal epithelial cells are also complex I-deficient in this patient. Complex I deficiency is a novel cause of secretory diarrhea and may act via disrupting the supply of adenosine triphosphate (ATP) needed for the maintenance of ion gradients across membranes. [ABSTRACT FROM AUTHOR]

Human papilloma viruses (HPV) are common pathogens associated with a wide range of cutaneous and mucosal infections in childhood. Different HPV types can cause common warts, genital warts, low-grade as well as high-grade squamous intraepithelial lesions. Anogenital warts represent an issue with legal and clinical implications and evaluation of children for the possibility of sexual abuse should be considered in all cases. Recurrent respiratory papillomatosis has also been associated with HPV infection in a variety of studies. The recently introduced HPV vaccination is expected to prevent HPV-related cervical cancer in adulthood; however, HPV infection will continue to affect children. [ABSTRACT FROM AUTHOR]

In comparison with other diseases, febrile convulsion, despite its excellent prognosis, is a cause of high anxiety among mothers. The objective of our study was to evaluate the knowledge, concerns, attitudes and practices of the mothers of children with first febrile convulsion. A prospective questionnaire-based study was carried out at the Mofid Children's Hospital. One hundred and twenty-six mothers of consecutive children presenting with febrile convulsion were enrolled. Only 58 (46%) mothers recognised the convulsion. Forty-nine (39%) of them interpreted the seizure as death. Others interpreted it as other causes. Eighty-five (68%) parents did not carry out any intervention prior to getting the child to the hospital. The most common cause of concern among parents was the state of their child's health in the future (n=120, 95%), followed by the fear of recurrence (n=83, 66%), mental retardation (n=60, 48%), paralysis (n=39, 31%), physical disability (n=37, 30%) and learning dysfunction (n=28, 22%). In 41 (33%) mothers, there were other causes of concerns, including fear of visual defect, hearing loss, memory loss, brain defect, delay in walking, drug adverse effects, coma and death. Sixty-eight percent of mothers had acceptable information about the measures that should be taken to prevent recurrence. Awareness of preventive measures was higher in mothers with high educational level (P<0.01). Seventy-six percent of mothers did not know anything about the necessary measures in case of recurrence. From this study, we conclude that parental fear of febrile convulsion is a major problem, with serious negative consequences affecting daily familial life. [ABSTRACT FROM AUTHOR]

Neuroglial heterotopias are rare congenital masses that are thought to represent encephaloceles that become sequestered on the extracranial side of the skull base. Although most often adjacent to bony skull base defects, they lack communication to the subarachnoid space. They contain mature neuroglial tissue and specialized central nervous system elements, such as a functioning choroid plexus. A case is presented of neonatal airway obstruction due to neuroglial heterotopia in the nasopharynx. The patient's clinical course and treatment are discussed, along with their radiology and histology. The relevant scientific literature is reviewed. [ABSTRACT FROM AUTHOR]

For health economic evaluations of rotavirus vaccination, estimates of the health and cost burden of rotavirus are required. Due to differences in health care systems and surveillance organisations, this is difficult to achieve by imputing estimates from one country to others. This study aimed to estimate the burden of rotavirus disease in Belgium. In children younger than 7 years of age, rotavirus is predicted to account annually for about 5,600 hospitalisations (676:100,000 children); 26,800 outpatient, general practitioner and paediatrician visits; and about 44,600 episodes for which no medical care is sought. This burden is estimated to represent direct costs of 7.7 million Euro and indirect costs of 12.8 million Euro. Rotavirus disease causes a substantial health and economic burden in Belgium. [ABSTRACT FROM AUTHOR]

Anaphylaxis remains under-diagnosed and under-treated. A better knowledge of patterns and triggers of anaphylaxis might contribute to a better management. In this study we evaluated the demographic and clinical features of anaphylaxis in pediatric patients, as well as its triggers and therapeutic approach. From May 1st 2004 until April 30th 2006 we prospectively collected data on all patients referred for investigation of anaphylaxis to the pediatric department of the University Hospital Gasthuisberg Leuven and to two private pediatric practices. Data were stored in a MYSQL database by use of an online encrypted web form. Sixty-four cases of anaphylaxis occurred in 48 children, aged 6 months to 14.8 years. Twenty-seven episodes (42.2%) occurred at home. The symptoms were dermatologic in 62 (96.9%) episodes, respiratory in 57 (89.1%), gastrointestinal in 19 (29.7%), cardiovascular in 14 (21.8%), and neurological or behavioural in 19 (29.7%). Antihistamines were administered in 41/57 (71.9%) cases, corticosteroids in 26/57 (45.6%), beta-2-mimetics in 14/57 (24.6%), and adrenaline in 11/57 (19.3%). Out of nine cases where Epipen was available at the moment of anaphylaxis, it was administered in one case only. Food was the cause of anaphylaxis in 42/55 (76.4%) cases with identified trigger, while medication, insect stings, latex, and birch pollen triggered 5 (9.1%), 4 (7.3%), 3 (5.5%), and 1 (1.8%) case(s), respectively. Allergy to the trigger was known prior to anaphylaxis in 19/55 (34.5%) cases. In conclusion, anaphylaxis in pediatric patients generally presents with dermatologic and respiratory symptoms, while in 1/5 episodes cardiovascular symptoms occur. Food is by far the most frequent trigger. Allergy to the trigger is known in 1/3 cases only. Anaphylaxis is under-treated, even when appropriate medication is available. [ABSTRACT FROM AUTHOR]

Portal hypertensive biliopathy (PHB) is defined as abnormal biliary changes that take place most likely secondary to extrahepatic portal vein obstruction (EHPVO) with portal hypertension. This condition may be asymptomatic or could lead to a cholestatic state, which is not well-described in children. We report a child who developed a cholestatic nature with portal hypertension some time after having neonatal surgery for duodenal atresia. We discuss the differential diagnosis and management of this rare condition. Symptomatic PHB has been only rarely reported in children. It should be suspected in patients with portal hypertension and having features of biliary obstruction. Hepaticojejunostomy may have a therapeutic role in selected patients in whom endoscopic or percutaneous manipulation of the biliary tree is unsuccessful and who have not responded to a surgical portal-systemic shunt procedure. [ABSTRACT FROM AUTHOR]

Introduction: We report the clinical and immunological features of the autoimmune regulator gene (AIRE) in two Sicilian brothers with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). They were compound heterozygotes with R203X/R257X. Both had oral candidiasis since the first year of life and later developed hypoparathyroidism and Addison disease. The elder brother had experienced recurrent lower respiratory infections since 5 years of age and over the years developed severe obstructive lung disease with bronchiectasis, which led to death at 18 years of age. Both brothers had circulating autoantibodies against tryptophan hydroxylase and serotonin-producing cells were absent in the duodenal mucosa. This was associated with intestinal dysfunction in only the elder brother.Conclusion: (1) In the first Sicilian family with APECED reported up to now we found a heterozygous mutation that had been previously reported only once. (2) In the older brother of this family we observed a severe and lethal lung disease; this case adds to a growing literature describing this association between APECED and respiratory illnesses. (3) Tryptophan hydroxylase antibodies might be hypothesized to be the marker of an autoimmune gastrointestinal illness possibly associated with APECED. [ABSTRACT FROM AUTHOR]

Menetrier's disease is an uncommon disease in childhood, characterized by gastric hypertrophy and hypoalbuminemia secondary to protein loss through the gastric mucosa. This paper describes a series report of protein-losing gastropathy associated with cytomegalovirus (CMV) infection in children and reviews the literature. We reviewed the medical records of eight children with diagnosis of Menetrier's disease or protein-losing gastropathy with evidence of acute CMV infection. During a five-year period there were eight children that were diagnosed with CMV-associated protein-losing gastropathy, all in one medium-sized pediatric ward in a general hospital. The mean age was 32 months and there was no gender predominance. The most common presenting symptoms were vomiting and edema. Average symptoms' duration prior to admission was 3.2 weeks and mean albumin at presentation was 1.8 g/dl (range, 1.5-2.5 g/dl; normal values, 3.5-5 g/dl). All eight children fully recovered. In conclusion, CMV infection should be suspected in every child who presents with protein-losing gastropathy. The availability of newer, rapid diagnostic techniques such as polymerase chain reaction (PCR) may facilitate diagnosis, as serology studies may be misleading. Usually, only supportive care is required, but treatment with ganciclovir may be considered for severe or prolonged cases. [ABSTRACT FROM AUTHOR]