Buket Dalgiç

Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. Both patients benefited from phlebotomy even if they had different etiologies. In childhood, the diagnosis of iron overload syndromes is crucial because they do not confront us with obvious symptoms and findings. Early initiation of a phlebotomy program can prevent mortality. NASH might lead to iron overload and iron overload might aggravate the clinical course of NASH.

Recently, sirolimus was demonstrated to be effective in treating vascular lesions and lessening the frequency of bleeding and secondary iron deficiency anemia. We present a child with blue rubber bleb nevus syndrome who had prolonged history of iron deficiency anemia secondary to unrecognized gastrointestinal bleeding. Treatment with propranolol, omeprazole and iron had failed. After 2.5 months of sirolimus therapy (trough levels 1 to 5 ng/mL), his hemoglobin concentration improved into the normal range and remained stable. Vascular malformations on both the patient's tongue and in the fundus of his stomach shrank within 5 months of the initiation of sirolimus. In gastrointestinal involvement of blue rubber bleb nevus syndrome sirolimus was found to be effective even in the tongue's vascular lesions.

The link between Helicobacter pylori and iron deficiency (ID) or iron deficiency anemia (IDA) has been investigated recently. We suggested that IDA/ID associated with H. pylori infection might be mediated by inflammation-driven hepcidin production. Patients with complaints of recurrent abdominal pain and dyspepsia aged between 7–16 years were included in this study. Patients were divided into two groups according to H. pylori status in upper gastrointestinal endoscopy. Group I who had H. pylori gastritis (n = 50) received triple antibiotic therapy. Group II (n = 50) who had H. pylori-negative gastritis only received proton pump inhibitor. Thirty healthy children with the similar age and gender were included in the study as a control group. Complete blood count, serum iron levels, iron-binding capacity, ferritin levels, prohepcidin and interleukin-6 (IL-6) values were evaluated in all children at the first visit. Initial tests were repeated after H. pylori eradication. Initial levels of ferritin (p = 0.002), prohepcidin (p = 0.003), and IL-6 (p = 0.004) were found significantly lower in group I compared to group II and the control group. The mean prohepcidin level was lower in the anemic H. pylori-positive group than in non-anemic H. pylori-positive group; however, the difference was not statistically significant. While significant increases in hematocrit and mean corpuscular volume were observed, no significant difference was found in serum ferritin, prohepcidin, or IL-6 level after eradication treatment in H. pylori-positive group. Conclusion: H. pylori-induced gastritis appears to cause an increase in prohepcidin levels and a decrease in ferritin levels, supporting our hypothesis; but this relationship has not been proven.

Glucose 6 phosphatase catalytic subunit-3 (G6PC3) deficiency is a heterogenous disorder characterized by severe congenital neutropenia and a variety of extrahematopoietic manifestations. Inflammatory bowel disease like colitis is an uncommon complication of G6PC3 deficiency, described only in adolescent and adults. Herein, we describe inflammatory colitis in a 10-year-old girl with severe congenital neutropenia due to G6PC3 deficiency while she was on a high-dose filgrastim. Switching from filgrastim to (pegylated filgrastim) Pegfilgrastim led to rapid resolution of colitis, weight gain, and decreased infections. Pegfilgrastim seems to be a better remedy for treatment of G6PC3 deficiency complicated with inflammatory bowel disease.

Rotavirus antigenemia is a common phenomenon in children with rotavirus diarrhea, but information is scarce on aspects of this phenomenon, such as genotype specificity, presence of intact viruses and correlation between genomic RNA and antigen concentration. Such information may help in understanding rotavirus pathogenesis and eventually be useful for diagnosis, treatment and prevention. Serum samples were collected from children who presented at hospitals with diarrhea. Antigenemia was present in 162/250 (64.8%) samples from children with rotavirus diarrhea. No specific rotavirus genotype was found to be associated with antigenemia. Rotavirus particles could not be found by electron microscopy in concentrated serum from children with high levels of antigenemia. In passaged rotavirus suspension a significant correlation (r = 0.9559; P = 0.0029) was found between antigen level and viral copy number, but no significant correlation (r = 0.001480; P = 0.9919) was found between antigenemia level and viral copy number in serum. When intact rotavirus was treated with benzonase endonuclease, genomic double-stranded (ds) RNA was not degraded, but when sera of patients with antigenemia were treated with benzonase endonuclease, genomic dsRNA was degraded, indicating genomic dsRNA was free in sera and not inside virus capsid protein. Antigenemia is present in a significant number of patients with rotavirus diarrhea. Rotavirus viremia was absent in the children with rotavirus diarrhea who participated in our study, and was not indicated by the presence of antigenemia. The significance of circulating rotavirus antigen and genomic dsRNA in serum of patients with diarrhea deserves further study.

In this study, we measured tissue transglutaminase IgA antibody for the serologic screening of celiac disease in 70 children with epilepsy. A pathologic titer of tissue transglutaminase IgA antibody was found in eight patients (4.7%). Small intestinal biopsies were performed in all antibody-positive patients, and two of them had small bowel histology typical of celiac disease (1.17%). Six had normal histology and were considered to have potential celiac disease. The prevalence of celiac disease in the epileptic group was 1.17%. None of the serum samples of 103 healthy children comprising the control group were positive for tissue transglutaminase IgA antibody. Therefore, we suggest that epileptic children be screened for celiac disease. (J Child Neurol 2006;21:6—7).

Chronic intestinal pseudoobstruction is a rare disorder of intestinal motility, characterized by recurrence of continuous symptoms and signs of intestinal obstruction in the absence of true mechanical obstruction. Congenital or systemic disorders are the causes of chronic intestinal pseudoobstruction. The term idiopathic is applied when there is no congenital or secondary cause. Early diagnosis of intestinal pseudoobstruction is important to avoid repeated laparotomies. Treatment of chronic intestinal pseudoobstruction is usually supportive. Besides the supportive therapy, prokinetic agents such as erythromycin and octreotide are used in the therapy. In this article, four pediatric patients diagnosed as chronic intestinal pseudoobstruction are discussed with their clinical findings and laboratory abnormalities. The etiology of chronic intestinal pseudoobstruction was visceral myopathy in one patient. Two had idiopathic chronic intestinal pseudoobstruction and the other patient developed chronic intestinal pseudoobstruction after cardiac surgery. Erythromycin was administered to all four patients, one of whom did not respond to this therapy. Octreotide was effective in this case.