Atomic absorption spectrometry in Wilson's disease and its comparison with other laboratory tests and paraclinical findings

Wilson's disease [WD] is an autosomal recessive disease with genetic abnormality on chromosome 13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system and other organs, which causes different clinical manifestations. The aim of this study was to determine the sensitivity of different clinical and paraclinical tests for diagnosis of Wilson's disease. Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper concentrations were examined with atomic absorption spectrophotometry [Australian GBC, model: PAL 3000]. Fifteen specimens had hepatic copper concentration [dry weight] more than 250 micro g/g. Clinical and laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively. Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid method for copper. Patients were 5-15 years old [mean age=9.3 years, standard deviation=2.6] with slight male predominance [9/15=60%]. Five [33%] patients were 10 years old. Three [20%] of them were referred for icterus, 8 [54%] because of positive family history, 2 [13%] due to abdominal pain and 2 [13%] because of hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 [13%] had cirrhosis, 1 [7%] had normal biopsy and 12 [80%] showed chronic hepatitis. Hepatic copper concentrations were between 250 and 1595 micro g/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic acid staining on liver biopsies. None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest that diagnosis should be based on combination of family history, physical examination and different tests

Iron deposition in duodenal mucosa; a review and report of three cases in pediatric age group

Ferrous sulfate drops are routinely used in Iran in infants older than 6 months of age. Effect of ferrous sulfate drops in preventive or therapeutic doses on gastrointestinal mucosa of infants is not studied as yet. Upper gastrointestinal complications due to acute iron poisoning are well known in this age group. In this article, we reviewed published articles on iron deposition in upper gastro-intestinal tract and also introduce clinical, endoscopic and histological findings in three cases with iron deposition in duodenal mucosa. We encountered three cases of iron deposition in duodenal mucosa among about 8000 biopsies during a 10 year period which is a very low incidence despite routine use of iron supplement in children above 6 months of age in this country. One of our cases suffered from steatorrhea and another from failure to thrive, which raises concern about effects of iron deposition in small intestine. The clinical significance and effects of iron deposition in pediatric age group is yet to be elucidated. Iron deposition as a solitary finding is not reported in duodenal biopsies of infants as yet. Since iron supplement is widely used in this age group, it is justified to consider its deposition and possible effects on absorption

Acute hemorrhagic edema of infancy; a report of five Iranian infants and review of the literature

Acute hemorrhagic edema of infancy [AHEI] is a benign self limiting leukocytoclastic vasculitis in young children. Serious complications, e.g. renal and gastrointestinal involvement, are not usually detected in AHEI patients. We report five patients with AHEI. Our patients were 17 to 21 months old. One patient presented with gastrointestinal bleeding due to this syndrome, the other one experienced second attack and scrotal edema due to epididymo-orchitis, while the third patient had renal involvement as hematuria and the other one had bilateral auricular chondritis. One of our cases was a typical case of AHEI without any complications, so a skin biopsy was not necessary. In this study, we describe the symptoms, probable triggering factors and treatment of choice for each patient. Although AHEI is a childhood vasculitis with no impairment of the general condition, some organ involvements such as gastrointestinal, renal or scrotal lesions and rarely chondritis are probable in these patients

Hirschsprung's disease: a clinical and pathologic study in Iranian constipated children

Hirschsprung's disease [HD] is a complex disorder resulting from absence of ganglion cells in the bowel wall leading to functional obstruction and bowel dilatation proximal to the affected segment. The aim of our study was to evaluate rectal biopsies from constipated children in different age groups to see in which age it is more likely to encounter HD to avoid unnecessary rectal biopsy. Records of all children with chronic constipation undergoing a rectal biopsy to exclude HD were obtained from the files of Children's Medical Center in Tehran, Iran. A detailed retrospective demographic review, including age of beginning of signs and symptoms was made of all cases. Totally, 172 biopsies were taken from 168 children in a five year period, of which 127 cases [75%] had HD. The mean age of constipated patients at biopsy was 39 months and the mean age of patients with proven HD was 18 months. Males were affected more than females. Congenital anomalies associated with HD were found in 9.6%. In 85 [91%] cases constipation had begun in neonatal period. Our data supports previous studies that if constipation begins after the neonatal period, the child is unlikely to have HD. In neonates delay in meconium passage is the most important clinical sign of HD

Breastfeeding and Helicobacter pylori infection in children with digestive symptoms

This study aims to evaluate the role of breastfeeding in the acquisition of Helicobacter pylori [H. pylori] infection in Iran and to compare the histopathologic changes occurring in children feeding on breast milk with those in infants feeding on formula. In a case-control study parents of children with and without H. pylori infection who had undergone endoscopic survey and gastric biopsy in the Children's Medical Center, Tehran, were asked about their feeding practices during the first 6 months after birth, the duration of breastfeeding period, the symptoms, and the duration of symptoms and concomitant diseases. A total of 154 children were included in this study. From this sample, 77 children formed the case group and 77 children formed the control group. A significant difference was found between H. pylori infection and feeding with formula [P=0.045]. In case group, a significant difference was found between breastfeeding and age of the infected child [P=0.034], shorter duration of symptoms [P=0.016], and finally degree of H. pylori colonization [P=0.021]. It appears that breastfeeding in the first 6 months after birth can decrease the degree of H. pylori colonization, postpone infection until older age, shorten the duration of symptoms, and be concomitant with milder gastritis

Colorectal polyps: a clinical, endoscopic and pathologic study in Iranian children

To study the clinical presentation, histology and colonoscopic features of lower gastrointestinal polyps in Iranian children. Medical reports of children with colorectal polyps were retrospectively reviewed from 1996 to 2005 at the Children's Medical Center Hospital, Iran. A total of 563 cases were studied. Data related to age, sex, family history, signs and symptoms, the size, location, polyp types and associated lesions were collected and analyzed. The mean age of children was 5.66 +/- 2.88 years [range 2 months to 17 years], with a male-to-female ratio of 1.61:1.0. The highest incidence was between ages 2 and 10 years [85.1%]. Rectal bleeding was the presenting symptom in 78.5% cases. The polyps were solitary in 94% of cases. A majority of polyps [86.3%] were juvenile and 86.7% located in the rectosigmoid area. Three percent of cases had a positive family history. One case of Turcot syndrome was also identified. Juvenile polyps remain the most common polyps in Iranian children. Although the presence of a solitary polyp in the rectosigmoid colon is more prevalent, in a significant number of cases they are multiple and located in proximal parts. Polyps must be removed even when asymptomatic because of their probable neoplastic potential

Giant cell hepatitis with autoimmune hemolytic anemia; a case report

Giant cell hepatitis [GCH] is a histological finding in infants with neonatal cholestasis and rarely can be seen after this period. Autoimmune hemolytic anemia [A1HA] which is characterized by massive and acute red blood cell destruction due to antibody production, responds favorably to corticosteroid therapy. The combination of GCH and AIHA is a rare distinct entity that carries poor response to immunosuppressive therapy and often progresses to fatal liver disease. A 13-month-old boy was referred to us with anemia and icterus. Investigations confirmed the diagnosis of GCH which was associated with AIHA. Treatment with steroids and azathioprin failed. We changed to cyclosporine. The anemia improved by steroid and IVIG at the beginning, but few months later anemia relapsed. Finally he recovered with rituximab and now he is 6 years old in suitable condition. The association of AIHA with GCH is an uncommon condition that can be life threatening. Most patients initially respond to immunosuppressive agents, but usually recur and have an aggressive course. In this case liver disease responded to steroid and immunosuppressive therapy, but the AIHA was refractory to immunosuppressive therapy. Rituximab is used in treatment of this condition, and this treatment was well tolerated and resulted in dramatic sustained improvement of anemia

Two consecutive stillbirths with multiple intestinal atresias in a 30-year-old female

Multiple duodenal and jejuno-ileal atresias are extremely uncommon.. The familial occurrence of multiple intestinal atresias is even more unusual. Also fetal death with isolated intestinal atresia is very rare, and the combination of recurrent familial intestinal atresias and intra-uterine fetal death has not been reported previously. We report on two cases of intra-uterine fetal death in a 30-year-old woman who is consanguineous with her husband and they have only one boy who carries chromosomal abnormality. To best of our knowledge this is the first reported case of two consecutive pregnancies with multiple intestinal atresias leading to intrauterine fetal death. Multiple and recurrent intestinal atresias are extremely uncommon. These rare cases may contribute to genetic mapping for intestinal atresias

Intestinal malakoplakia in children

Malakoplakia is a rare inflammatory disease, related to enterobacterial infection in the context of a disorder of cell-mediated immunity. Malakoplakia is exceptional in children and usually involves the gastrointestinal tract. The diagnosis is exclusively based on histological analysis. In this paper we have reported 3 children with intestinal malakoplakia which were enrolled during a period of 6 years between 2001 to 2006 at Children's Medical Center. Two were male, and one female. The main clinical manifestations were: chronic bloody and mucosal diarrhea, abdominal pain and polypoid masses detected by diagnostic colonoscopy. Histological diagnosis proved to be definite in these cases. The response to drug treatment with trimethoprim-sulfamthoxazole in all three patients was good. The presence of intestinal malakoplakia must be ruled out in every child having chronic bloody mucosal diarrhea

Griscelli syndrome type 2; a pediatric case with immunodeficiency

A 3.5 month-old girl was admitted with silvery gray hair, light colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease

[Sirenomelia; a case report and review article]

Sirenomelia or Mermaid syndrome is characterized by complete or incomplete fusion of lower extremities with an incidence of 1.5 to 4.2 in 100000 live births. It occurs in gastrulation period [beginning of third gestational week] because of insufficient mesoderm formation in caudal region. Various theories have been postulated to explain the etiology of sirenomelia such as pressure theory which denotes that some intra-uterine force, probably amniotic, acts on the tail of embryo. The aim of this study was to present a rare congenital malformation. In addition we reviewed the pertinent literature in this regard. Case Presentation: We report a case of sirenomelia with multiple interesting anomalies including bilateral renal agenesis, absent external genitalia, gall bladder agenesis, colorectal agenesis from mid ascending colon, ileosacral dysgenesis, meningocele, caudal tapering of abdominal aorta and single umbilical artery. History, detailed autopsy findings and review of literature are presented in this report. Sirenomelia is a rare congenital malformation leading to stillbirth or early death after birth due to multiple anomalies, so prompt intra-uterine diagnosis and therapeutic abortion is of utmost importance