neonate with indurate dermal papules and nodules and pneumonia: a case report

We present an infant with several indurated plaques and nodules scattered on her body. She was brought to the hospital because of fever, runny nose and cough from one month ago. During the examination and investigation the plaques and nodules grabbed the attention of the clinicians and the skin biopsy and other lab works revealed the diagnosis of congenital leukemia

Role of Fecal Calprotectin in Differentiating between Hirschsprung's Disease and Functional Constipation / 대한소화기학회지

BACKGROUND/AIMS: Calprotectin is a 36.5 kD calcium and zinc binding protein in the S100 protein family. Fecal calprotectin levels are elevated in patients with inflammatory bowel disease and some other gastrointestinal disorders such as colorectal carcinoma. We decided to evaluate the fecal calprotectin level to see if it was able to distinguish between functional and organic causes of constipation. METHODS: Seventy-six children aged 1 to 120 months that all underwent deep rectal mucosa biopsies at Children Medical Center from November 2010 till September 2011 were recruited. Nineteen cases were diagnosed as Hirschsprung's disease and 57 of the patients had nerve ganglion cells in their biopsies. Calprotectin concentration was analyzed by the ELISA method. RESULTS: Although there was a significant difference between the median of the two groups (p=0.036), the median was not above the predetermined cutoff value of 50 microg/g. CONCLUSIONS: We propose that fecal calprotectin, using the above cutoff value, has limited value in differentiating functional constipation from Hirschsprung's disease.

Outcome of subsequent pregnancies in familial molar pregnancy

Familial recurrent molar pregnancy is an exceedingly rare condition, in which complete hydatidiform moles are mostly diploid but biparental in origin and the outcome of subsequent pregnancies is likely to be a hydatidiform mole or other type of reproductive loss. We previously reported a case of familial molar pregnancy [family K] comprising five affected members [four sisters and one of their cousins] each with at least one hydatidiform mole [HM]. In addition to the molar pregnancies, these patients have a total of three miscarriages and 8 normal pregnancies leading to healthy children; but the youngest member of this family has given birth to a boy with Down syndrome. Our second family [case S] includes two sisters with diploid biparental complete moles. They have a total of six molar pregnancies with no living child. Recently the younger sister had a partial molar pregnancy with apparently normal XX fetus accompanying diffuse molar changes of the placenta that led to preeclampsia and preterm delivery. Overall, these families have had 26 pregnancies including 12 molar pregnancies [complete or partial] and three abortions. We concluded that these families are predisposed to various genetic mutations, chromosomal abnormalities and clinical manifestations, which affect their offspring. Further studies of patients are needed to determine any relationship between a history of familial molar pregnancy and trisomy or other chromosomal abnormalities in offspring and genetic mutations in the products of conception to complete the puzzle and manage familial molar pregnancy

Alpha 1 antitrypsin deficiency in infants with neonatal cholestasis

Alpha 1-antitrypsin deficiency [A1ATD] is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis. Eighty-seven infants were typed for Z and S alleles. In a single center study, 87 consecutive liver biopsies from infants with cholestasis were reviewed and patients with neonatal cholestasis enrolled in the study and cases with confirmed biliary tract atresia excluded. Formalin fixed paraffin embedded blocks were used for DNA extraction. AAT genotype was determined by polymerase chain reaction [PCR] assay and amplification of the two most common deficiency variants, S and Z alleles, and then sequencing of PCR products. There were 48 [55.2%] males and 39 [44.8%] females, with a median age of 60 days. Out of 87 of the study subject, 2 [2.2%] were heterozygous for the S allele, and no ZZ, SS or MZ individual was found in the patients. No other polymorphism was found in the sequencing results. In comparison to other populations, AAT deficiency seems not to be an important etiologic factor for neonatal cholestatic liver disease in Iran; however, further studies are recommended to estimate the true mutant gene frequencies

Is there any association between passive smoking and esophagitis in pediatrics?

Exposure to environmental tobacco smoke [ETS] is one of the major factors of predisposing children to develop several hazardous health problems. We decided to investigate the association between nicotinine, one of the nicotine metabolites and esophagitis in children with gastroesophageal reflux disease [GERD]. In a case control study 46 children suffering from esophagitis referred to endoscopy ward were recruited. The control group consisted of 45 healthy children. Urine samples were collected and urinary cotinine level [UCL] measured. The mean age of esophagitis and control groups were 5.11 +/- 2.93 and 6.72 +/- 2.8 respectively. Sixty children were passive smokers; 31 of them had non-smoker parents. In control group, 32 [71.1%] children and in esophagitis group 29 [63%] children had non-smoker parents. The mean value of UCL in patients suffering from esophagitis was significantly higher than those in normal group [P=0.04, 24.98 +/- 6.4 ng/ml vs. 15.16 +/- 3.9 ng/ml]. Considering 50ng/ml as a cutoff point for UCL, it was significantly higher in passive smoker group than in non smoker group [P=0.02]. The mean cotinine level differed significantly in esophagitis and control group. Our results indicate the increased risk of developing esophagitis in children with ETS exposure

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

Pathologic evaluation of appendectomy specimens in children: is routine histopatholgic examination indicated?

Acute appendicitis is the most common cause of abdominal surgery in children. Similarity between signs and symptoms of appendicitis and other common pediatric illnesses, atypical manifestations of appendicitis in young children, and children's inability to give precise explanation for their symptoms contribute to considerable delay in proper diagnosis and increased rate of perforation. Current study reports the surgical and pathological findings of appendectomies in the largest Children's Hospital in Iran. It also evaluates whether common protocol for pathologic evaluation following appendectomy is beneficial. Pathologic reports of 947 appendectomies, performed with the presumptive diagnosis of acute appendicitis, were gathered. Correlation between surgical and pathologic findings was assessed. Demographic characteristics of patients between surgical and pathological subgroups were also compared. The mean age of participants was 6.9 +/- 3.5 years. Eighty seven [25.5%] children had abnormal pathological findings and normal surgical report. None of miscellaneous findings including appendicular carcinoid tumor 3 [0.3%], oxyuriasis 2 [0.2%], and mycobacterial infection 4 [0.5%] were recognizable during the surgery. Of all pathologically confirmed cases with perforated appendicitis, 9.7% were not detected during the surgery. In current study, acute appendicitis was the most common pathological diagnosis, however, high normal appendectomy rate along with noticeable proportion of surgically missed perforated appendicitis and unusual histopathologies strongly supported routine histological examination

Total antioxidant status in patients with major beta-thalassemia

Beta-thalassemia major is an autosomal recessive disease causing severe and hemolytic anemia, which begins about 2-6 months after birth. Iron overload, which arises from recurrent transfusion and ineffective erythropoiesis, can enhance oxidative stress in thalassemic patients. The aim of this study was to evaluate the serum total antioxidant capacity of patients with beta-Thalassemia major. Sixty six Iranian patients with beta-thalassemia major and 66 age-gender matched controls were evaluated for serum total antioxidant status [TAS], uric acid [UA], bilirubin and albumin. In addition, serum ferritin and transaminases were recorded in these subjects. Significant increases of TAS, UA, and bilirubin were observed in the patient group, compared with the control group [P<0.01]. Mean TAS and bilirubin in male patients was higher than in females [P=0.005 and P=0.008, respectively]. There was also direct correlation between TAS and albumin [P<0.001], bilirubin [P<0.001] and UA [P=0.002]. Endogenous antioxidants such as ferritin, UA and bilirubin can result in increased level of TAS in the patients with Beta-thalassemia major. Compensatory excess of TAS to oxidative stress could also be the reason for difference between our findings and previous studies

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

Congenital embryonal rhabdomyosarcoma with prenatal onset

Rhabdomyosarcoma [RMS] is the single most common type of soft tissue sarcoma in children and adolescents but it is extraordinarily rare in neonates. Extremity RMS comprises 20% of all sites, occurs more commonly in the leg than in the arm and accounts for 9% of all RMS cases. According to our review, this is the second case of RMS on day one of life with congenital, antenatal feature, and postnatal progressive clinical course of a large tumor of the hand [pretreatment staging T2bN1M0] with embryonic histological subtype and unfavorable prognosis. The patient is a term newborn boy with huge mass in the right hand and palpable lymph node in subaxillar region. Congenital embryonal rhabdomyosarcoma is a rare form of sarcomas with congenital in nature, antenatal feature and post natal progressive clinical course of sarcomas of extremities in newborn infants