Coronary Involvement in Infants with Kawasaki Disease Treated with Intravenous γ-Globulin

Aim To analyze the clinical spectrum and the incidence of coronary involvement in infants with typical Kawasaki's disease (KD). Patients and Methods A retrospective study was performed on children one year of age or younger diagnosed from February 1992 to January 2006 with typical KD. Children with incomplete forms of the disease were not included. Results Twenty-five infants were diagnosed with KD during the study period. The median age of the patients was 10 months (range, 4–12 months). All children but one received intravenous gammaglobulin (IVIG), 84% before the 10th day of disease. Seven patients (28%) required the administration of more than one dose of IVIG, because persistence of fever. Coronary artery disease (CAD) was recorded in 6 cases (24%), five of them being boys. All patients with CAD were treated with ASA plus IVIG and 84% of them received this therapy within the first 10 days of the KD onset. Conclusions In spite of the exclusion of our study of incomplete presentations and of an early administration of IVIG in our patients, we have observed a high rate of infants who developed CAD, which is similar to the one reported in children who do not receive IVIG.     

Valproate in adolescents with photosensitive epilepsy with generalized tonic–clonic seizures only

AimTo assess the effects of valproate (VPA) on seizure response/control and photosensitivity (PS) in adolescents suffering from photosensitive epilepsy with generalized tonic–clonic seizures only (EGTCS).MethodsWe prospectively evaluated 55 adolescents with newly diagnosed EGTCS and PS at presentation, who received VPA monotherapy. Two phases of the study were defined and analysed separately. In the phase I, the electroclinical data of patients were compared over three time points: T1 (at 6 months of treatment); T2 (at 12 months of treatment); and T3 (at 36 months of treatment). In the phase II, only patients who stopped VPA were evaluated over a period of 12 months.ResultsAt both T2 and T3 there was a significant great percentage of seizure-free patients compared with that at T1 (78.2% vs 69.1%, p < 0.01; and 85.5% vs 69.1%, p < 0.001) and a similar trend was also noted according to PS-free patients (70.9% vs 52.7%, p < 0.01; 80.0% vs 52.7% p < 0.001). At the end of the phase II, 46.5% and 32.6% out of 43 patients who stopped VPA had seizure relapses and reappearance of PS, respectively. In particular, 78.6% of the 14 patients with PS reappearance presented the same type of EEG response showed at study entry.ConclusionsVPA monotherapy is very effective for both seizure outcome control and PS reduction in adolescents with EGTCS. Treatment discontinuation induces relapse of seizures and PS in a certain number of patients. PS reappearance presented the same type of EEG response showed before VPA treatment.     

Should cholecystectomy be performed concomitantly with splenectomy in children with sickle-cell disease?

Splenectomy and cholecystectomy are among the common surgical procedures required to treat complications of sickle-cell disease (SCD), and when performed separately have been shown to be safe and effective. To determine whether cholecystectomy be performed concomitantly with splenectomy (CSC) in these children, we studied a total of 130 children who underwent splenectomy for various hematologic diseases at our hospital. The most common indication was SCD. Ninety-nine patients (86 SCD and 13 sickle-B-thalassemia) underwent splenectomy and 19 (19.2%) (12 males and 7 females, mean age 13.4 years [7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18]) underwent CSC due to concomitant gallstones, which were asymptomatic in 13 cases. Those with an admission hemoglobin (Hb) of less than 10 g/dl were transfused with packed erythrocytes to increase their Hb to 10-12 g/dl and their hematocrit to 30%-40%. All patients received intravenous hydration the night before surgery at a rate of 1(1/2) times their maintenance rate, which was continued postoperatively until they were able to tolerate adequate oral fluid intake. The indications for splenectomy in those who had CSC were: acute splenic sequestration crisis in 12, splenic abscess in 3, hypersplenism in 2, and massive splenic infarction in 2. Eight patients had massive splenomegaly (spleen weight >1 kg). In 7 cases CSC was done through a left-upper-quadrant (LUQ) transverse incision, in the remaining 12 through an upper midline incision. There was no mortality and only 2 patients developed postoperative complications; a wound infection in 1 and a hematoma in the splenic bed in another. With good perioperative management, CSC is both safe and effective for children with SCD. Both procedures can be performed safely through an upper midline or a LUQ transverse incision, even in the presence of massive splenomegaly.     

Refractory anemia with ringed sideroblasts in children: two diseases with a similar phenotype?

Three pediatric patients with refractory anemia with ringed sideroblasts (RARS) are presented. Bone marrow aspirates were examined using Romanowsky and Prussian blue iron stains in all three patients, and electron microscopic analysis was performed in one patient. All three patients had cytogenetic analysis of the bone marrow. Other studies included analysis of serum iron, total iron-binding capacity, ferritin, copper, vitamins B6 and B12, and folate levels. Antibody titers to Parvovirus, HIV, and other viruses were measured. The patients had contrasting clinical courses. Patients 1 and 2 had dysplastic hematopoietic features and cytogenetic findings (with either partial or one allele loss of chromosome 7), suggestive of myelodysplastic syndrome. Patient 1 experienced acute myeloid leukemia (AML) and had a good response to AML-directed therapy. Patient 2 had prolonged cytopenias and underwent bone marrow transplantation (BMT). Patient 3 had features suggestive of refractory anemia associated with mitochondrial cytopathy, including normal cytogenetics with pronounced vacuolization of marrow precursors. His anemia regressed spontaneously a few months after diagnosis. These patients represent two subgroups of pediatric RARS. Patients with the myelodysplastic syndrome (MDS) type may progress to cytopenias or leukemia and may require aggressive therapy; the type is characterized by clonal cytogenetic findings. The non-MDS type, which may relate to mitochondrial cytopathy, often shows spontaneous regression and requires only supportive treatment; it has normal cytogenetic findings.     

Is rectal disimpact always necessary in children with chronic constipation? Evaluation with pelvic ultrasound

Purpose  

The aim of study was to evaluate if pelvic ultrasound can be useful in managing children with chronic idiopathic constipation.     

Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations?

A boy had infantile-onset systemic inflammation, growth failure, hepatosplenomegaly, anemia, leukocytopenia, progressive muscular dystrophy, and hypercalprotectinemia, resulting in marked hyperzincemia. His mother had a history of chronic arthritis since childhood and also showed hypercalprotectinemia/hyperzincemia. We postulate an inherent defect in calprotectin metabolism.     

Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe Disease

Background  Infantile Pompe disease (glycogen storage disease type 2) is a fatal disorder caused by deficiency of acid α-glucosidase. This deficiency results in glycogen accumulation in the lysosomes of many tissues including cardiac muscle. The disease is characterized by profound hypotonia, poor growth, organomegaly, and cardiomegaly. Severe hypertrophic cardiomyopathy often is present in early infancy, and most patients die of cardiac or respiratory failure in the first year of life. This report describes the cardiac response of infants with Pompe disease to a phase 2 trial of enzyme replacement therapy (ERT). Methods  Eight patients with classical infantile Pompe disease were given intravenous recombinant human GAA (rhGAA) for 1 year. Cardiac monitoring included echocardiography, electrocardiograms (ECGs), chest radiographs, and clinical cardiac evaluation at 4, 8, 12, 24, 36, and 52 weeks. At 52 weeks, 6 patients were alive. Results  Most of the treated patients had rapid regression of ventricular hypertrophy in response to ERT, with near normalization of posterior wall thickness, ventricular mass, and ventricular size. Systolic ventricular function was preserved despite rapid changes in ventricular mass and size. Concomitantly, ECGs documented lengthening of the PR interval and decreased ventricular voltages, whereas chest radiographs documented a decreased cardiothoracic ratio. Symptoms of pulmonary congestion were diminished, and survival was improved. Conclusion  The cardiovascular system responds quickly and strikingly to ERT with rhGAA, suggesting rapid reversal of excessive glycogen storage in cardiac muscle cells. Changes in ventricular mass and function are maintained throughout 1 year of follow-up evaluation and associated with decreased morbidity and prolonged survival.     

Atypical Meigs’ syndrome in a neonate with ovarian torsion associated with an ovarian dermoid cyst

We describe a female neonate with ovarian torsion, ovarian follicular and dermoid cysts, congenital ascites, pleural effusions, and respiratory distress. Her symptoms were consistent with atypical Meigs syndrome and resolved after unilateral oophorectomy. This is the first report in a neonate of this syndrome in association with congenital ovarian disease.