Iranian Journal of Pediatrics
Volume:24 Issue: 3, Jun 2014

Periodic fever syndromes are a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. In the first part of this paper, we presented a guideline for approaching patients with periodic fever and reviewed two common disorders with periodic fever in Iranian patients including familial Mediterranean fever (FMF) and periodic fever syndromes except for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA). In this part, we review other autoinflammatory disorders including hyper IgD, tumor necrosis factor receptor–associated periodic syndrome (TRAPS), cryopyrin associated periodic syndromes, autoinflammatory bone disorders and some other rare autoinflammatory disorders such as Sweet’s and Blau syndromes. In cryopyrin associated periodic syndromes group, we discussed chronic infantile neurologic cutaneous and articular (CINCA) syndrome, Muckle-Wells syndrome and familial cold autoinflammatory syndrome. Autoinflammatory bone disorders are categorized to monogenic disorders such as pyogenic arthritis, pyoderma; gangraenosum and acne (PAPA) syndrome, the deficiency of interleukine-1 receptor antagonist (DIRA) and Majeed syndrome and polygenic background or sporadic group such as chronic recurrent multifocal osteomyelitis (CRMO) or synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome are classified in sporadic group. Other autoinflammatory syndromes are rare causes of periodic fever in Iranian system registry.

Autonomy is usually considered as a main principle in making decisions about individuals’ health. Children and particularly adolescents have the capacity to take part in medical decision-making to some extent. For the most part the parent-doctor-child/adolescent triangle are essentially in agreement, but this may not be true in some cases, causing physicians to face problems in an attempt to determine their professional duties. According to Islamic jurisprudent upon reaching the age of Taklif (15 full lunar years for boys and 9 full lunar years for girls) no one can be treated as incompetent based on mental immaturity unless his or her insanity or mental immaturity is proved. Moreover the Islamic Sharia, decrees that parents should lose their authority to make medical decisions for their children, if their bad faith or imprudence is proven, in which case a fit and proper person or an institution will be appointed to make decisions in this respect based on the child’s best interests.

Carotid intima-media thickness (cIMT) has been known as a criterion of generalized atherosclerosis and a marker of cardiovascular disease progression in many studies which can be measured by ultrasound using high-resolution device. This is a case-control study. A total of 40 children (16 males and 24 females) with type1 diabetes mellitus and control group consisting of equal numbers (17 males and 23 females) who were otherwise healthy were included in the study from May 2007 to January 2008. The two groups were age matched, with the mean age of 10.56±3.21 years in control group and 10.67±4.18 years in diabetic patients. Left and right cIMT were measured by ultrasound. There was a significant difference between case and control subjects in terms of mean cIMT (P<0.001). cIMT was significantly higher in the diabetic group. Among variables including age, BMI and diabetes, diabetes was the only influential parameter in this respect. The mean time length of type 1 diabetes in our diabetic group was reported 4.24±3.02 years, with a minimum of four months and a maximum of ten years. There was a statistically significant difference between the two diabetic patients with below and above four years of disease duration (P=0.03 for right carotid artery and P=0.01 for left carotid artery). cIMT has been identified as an early indicator of atherosclerosis in many studies. It increases in patients with type 1 diabetes as the disease progresses and this can be followed by macro and microvascular atherosclerotic changes.

Since congenital hypothyroidism (CH) is the most important cause of preventable mental retardation, its screening is important. In this present study, it was aimed to evaluate congenital hypothyroidism cases before and after the initiation of screening program in year 2007 in our country. A total of 400 patients diagnosed with CH at our outpatient clinic were retrospectively evaluated. Age of diagnosis, complaint, clinical signs, and etiological distribution were detected and changes in those parameters were evaluated before and after year 2007, which was the initiation date of our national screening program. After year 2007, 70.6% of patients were diagnosed in the first month; 21.2% in 1-3 months; 6.5% in 3-6 months, and no patient was diagnosed after 9 months. Before initiation of the screening program, 48.4% of cases were diagnosed in the first month, the percentage was increased to 62.8% after the program; the increase was significant. While mental retardation was detected in 13.3% of patients before the screening, it was decreased to 4% after initiation of the program. An interesting finding was that age of treatment onset in girls was significantly higher than in boys before the screening; there was no difference between them after initiation of the screening. In this present study, it was observed that ages of diagnosis and treatment as well as mental retardation rates were significantly decreased in girls after the screening program, but ideal results have not been reached yet, and is expected to be reached in the future.

Enterobacter cowanii is a genus of common gram-negative, facultatively anaerobic, rod-shaped, non-spore-forming bacterium of the Enterobacteriaceae family. This organism can be potentially a powdered infant milk formula-borne opportunistic pathogen. The aim of this study was to isolate and identify E. cowanii from consumed powdered infant formula milk (PIF) in intensive care units (NICU) and to determine antimicrobial susceptibility patterns of this bacterium. E. cowanii was isolated according to FDA method in 125 samples of PIF milk purchased from drug stores between Jun 2011 and March 2012. For final confirmation, biochemical tests embedded in API-20E system were used. The drug susceptibility test was performed using the disc diffusion method according to CLSI recommendations. Out of the 125 PIF samples investigated, 4 (3.2%) samples were positive for E. cowanii. All four isolates from PIF samples were uniformly susceptible to imipenem, meropenem, ceftazidime, ciprofloxacin, and colistin. Fifty percent of isolates were resistant to ampicillin, amoxicillin, and cotrimoxazole Analysis of the results indicated that complementary studies are necessary to clarify the possible role of E. cowanii as a food contaminant, in common NICU infections and high risk groups including persons with underlying disease and immunocompromised individuals.

Newborns who suffer from jaundice and/or receive phototherapy (PT) are at a higher risk of developing asthma. In this study we aimed to investigate the relationship between bilirubin and peripheral eosinophil counts in newborns with severe hyperbilirubinemia needing PT. In this study, a retrospective analysis was performed on 306 newborns with severe hyperbilirubinemia with gestational age ≥35 weeks (Group 1) and the control group consisted of 295 age and gender-matched newborns (Group 2). Total serum bilirubin, hemoglobin, albumin, leucocyte and eosinophil counts before and after PT were recorded from medical charts. All the patients in Group 1 received phototherapy and 77 (25.2%) of them needed exchange transfusion (ET). Before receiving PT, the patients in Group 1 had lower levels of Hb and higher levels of total serum bilirubin and lymphocytes than those in Group 2 although there was no statistically significant difference with regard to peripheral eosinophil counts. Eosinophils were detected to be numerically lower in Group 1. Higher bilirubin subgroups had also lower eosinophil counts. The patients in Group 1 had lower levels of Hb, leucocyte, albumin and higher levels of eosinophil following PT. Peripheral eosinophil count may be affected by bilirubin levels and/or phototherapy. There is a need for further clinical research based on different models.

The goal of this study was to evaluate the effect of protein energy malnutrition on protein glycosylation by investigating transferrin isoform pattern and its relationship to the degree of malnutrition and the biochemical markers of nutritional status in children. Forty one children with mild (n=23) and severely/moderately (n=18) acute malnutrition and 29 controls were enrolled in the study. Serum transferrin isoforms were determined by isoelectric focusing electrophoresis. Transferrin, prealbumin, zinc, iron and insulin-like growth factor-1 (IGF-1) were measured using automated analyzers. Asialotransferrin and disialotransferrin were significantly higher in severely/moderately malnourished patients compared to controls (P=0.04 and P=0.04, respectively). Other transferrin isoform patterns were not different among three groups. Serum IGF-1, transferrin and iron levels of severely/ moderately malnourished group were significantly lower than tose of controls (P=0.001, 0.02 and 0.03, respectively). Serum prealbumin and zinc levels were similar in all three groups. Serum IGF-1, transferrin and iron levels, and all transferrin isoform patterns were not significantly different in mildly malnutrition group from other two groups. The changes in transferrin isoform pattern observed in malnourished patients may indicate that malnutrition is a catabolic state which has effects on glycosylation.

This study has examined the prevalence of celiac disease in Turkish children with idiopathic epilepsy. Children with idiopathic epilepsy were screened for celiac disease using the IgA anti-tissue transglutaminase antibody and compared with the healthy control group in order to find the association of celiac disease (CD) with idiopathic epilepsy. Upper gastrointestinal endoscopy and small intestinal biopsies were offered to all antibody-positive patients. A total of 214 children with the diagnosis of idiopathic epilepsy and 166 healthy children as control group were studied. Of the patients recruited, 55.1% had generalized epilepsy, and 44.9% had partial epilepsy. In 33 patients with partial epilepsy, electroclinical features were consistent with a diagnosis of childhood partial epilepsy with occipital paroxysms (CPEO). Two of 33 patients with CPEO had positive IgA anti-tissue transglutaminase antibodies in serology. Pathological examination of small intestinal biopsy specimens showed total villous atrophy in both of them. The prevalence of celiac disease among children with idiopathic epilepsy and CPEO was 0.9% and 6%, respectively. The results of the present study revealed that prevalence of CD is increased in children with epilepsy. On the other hand, as high as 6% prevalence of CD among patients with CPEO found in this study should be kept in mind and the clinicians should be aware of this association.

Vasoconstriction during anxiety reduces fetal oxygenation and leads to hypoxia. Hypoxia in turn results in increase of the number of nucleated red blood cells (NRBCs) in the cord blood. The present study aimed to assess the effect of decreasing maternal anxiety on fetal oxygenation and NRBCs count in the cord blood. In this study, 150 women were randomly divided into two intervention groups [supportive care and acupressure in BL32 (bladder) acupoint] and a control group (hospital routine care). The infants'' cord blood was investigated regarding the number of NRBCs and the intensity of hypoxia after birth. Then, the data were entered into the SPSS statistical software (v. 16) and analyzed using ANOVA, Chi-square test, and logistic regression analysis. The significant difference was found between the two groups regarding the number of NRBCs counted in the peripheral blood smear (P<0.001). Besides, a significant relationship was observed between the length of the first and second stages of labor and the number of NRBCs in the cord blood (P=0.01). Also, a significant association was observed between the type of delivery and the number of NRBCs in the cord blood in both intervention (P<0.001) and control groups (P=0.03). Doula supportive care and acupressure at BL32 point reduced the length of labor stages as well as the anxiety level. Also, nucleated red blood cells were less in the 2 groups of intervention than in control group. Regarding the fact that nucleated red blood cells cannot be the only factor for hypoxia predicting, for affirmation of this theory study with higher sample size and survey of mothers at high risk are needed.

Gonadotropin-Releasing Hormone agonists (GnRHa) are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass index Thirty girls between 8.5 and 12 years with short stature and predicted adult height of less than 155 cm were enrolled in the study. All had rapidly progressive puberty. Weight and height measurements were done at the beginning of treatment, 6 and 12 months after starting and 6 and 12 months after the cessation of treatment. Bone age and stages of puberty were estimated at the beginning of treatment, after 12 months of starting and 12 months after the treatment was stopped. Predicted adult height (PAH) changes during treatment were not significant. There was no significant difference between final height and weight according to the body mass index (BMI), PAH or bone age. We conclude that girls with genetic short stature and rapidly progressive puberty will not benefit receiving a one-year course of GnRHa and there is no significant difference between the final height and final weigh among children according to BMI.

Sydenham’s chorea (SC) is thought to be an autoimmune disorder. MRI is generally used to exclude other causes of chorea. There are no typically defined MRI features of SC. In this study we aimed to determine clinical and neuroimaging findings of SC. In this study 17 patients with acute SC were retrospectively evaluated. Sydenham’s chorea was diagnosed according to the 1992 revision of the Jones criteria. The other causes of chorea were excluded. Cranial MRI was performed in all patients during the acute phase of SC. Walking, speech and swallowing disorders, muscle weakness, behavioral disorders, treatment, symptom recovery time and recurrence were evaluated. The patients’ mean age was 11.2 years. Behavioral changes, muscle weakness and dysphagia occurred in 70%, 64% and 23% of the patients, respectively. Nonspecific signal hyperintensities were observed in the white matter, brain stem and caudate nucleus in 47% of patients. Two patients who had chorea paralytica were treated successfully with a high dose of intravenous methylprednisolone. Nonspecific hyperintense white matter abnormalities may be due to the inflammatory process associated with a longer duration of clinical signs. To explain the MRI findings and the pathogenesis of SC, comprehensive studies are needed.

Oral and maxillofacial lesions vary regarding their clinical presentation in different populations. Until now, oral and maxillofacial lesions in Iranian children and adolescents have not been studied. The aim of this study was to determine the type and distribution of biopsied oral lesions among children and adolescents in Southern Iran. All the patients referred to the pathology department of Shiraz Faculty of Dentistry from 1991-2009 were enrolled in this retrospective, case-series study. The information regarding the patients’ age, gender as well as the histopathologic type and anatomic location of the biopsied oral lesions in patients under 18 years was collected from patients’ medical documents and were analyzed by SPSS version 11. Out of 2984 patients, 576 (19.3 %) cases were children and adolescents under 18 years. The most prevalent category was soft tissue lesions (45.5 %). The most common lesion was peripheral giant cell granuloma (15.6%) followed by dentigerous cyst (14.2%) and pyogenic granuloma (11.3%). Gingiva was the most common affected site. Male to female ratio was 1.2. Our results revealed that near 20% of orofacial lesions occur in children and adolescents with rather equal male to female ratio. The majority of lesions were soft tissue diseases with a reactive nature. Unlike other studies we had higher rates of soft tissue lesions. These data can help dentists and surgeons for more accurate management of their patients.

Congenital heart diseases are among the most frequent major congenital anomalies. One of the suspected reasons for congenital heart defects is overweight and obesity of mother during prepregnancy and pregnancy. We studied the relationship between maternal overweight and obesity and the risk of congenital anomaly. All of children with congenital heart defect (164 infants with major nonsyndromic heart disease) referred to our pediatric cardiology clinic or admitted to our ward during 2011-2012 were included in this study. Controls were 158 live-born infants without any major malformations and their mothers. Mothers of these infants were studied for weight, height and body mass index (BMI). The most frequent congenital heart disease was ventricular septal defect (39%), patent ductus arteriosus (11%), complete atrioventricular septal defect (10%), pulmonary stenosis (9.1%), and atrial septal defect (8.5%). There was no significant difference between maternal age (P=0.1), weight (P=0.8) and height (P=0.3) in the two groups. The mothers had not significantly higher BMI than that of the control mothers. Compared with underweight (BMI <18.5) and normal weight women (OR: 1.24, 95%CI: 0.40-3.89), overweight (OR: 0.98, 95%CI: 0.31-3.10) and obese women (OR: 1.16, 95%CI: 0.34-4.00) were not more likely to have an infant with a congenital heart defect. This study suggests that there may not be a relation between maternal BMI and having a child with congenital heart defect.

In the present study, we evaluated the association of rs662799 variant of the APOA5 gene with Metabolic syndrome (MetS) in a sample of children and adolescents from Isfahan. This case control study comprised 50 cases of MetS and 50 controls. Mismatched polymerase chain reaction–restriction fragment length polymorphism (mPCR-RFLP) was used to genotype -1131T>C polymorphism. No significant association was documented for APOA5 genotypes with the measured laboratory parameters for CC, CT, and TT genotypes in the two groups studied. By logistic regression using a dominant model, the odds ratio (95% confidence interval0 for the MetS was 0.38 (0.139–1.0350 and 0.29 (0.080–1.0710 for the unadjusted and adjusted models, respectively. This study suggests that among studied children and adolescents, -1131T>C polymorphism in the APOA5 gene may not be a major contributor to the MetS risk.

A neurogenic bladder is one which functions abnormally due to disorders of sacral nerves that control the bladder''s ability to fill, store and empty urine. Abnormal bladder function can cause the bladder to be underactive or overactive. This study was planned to evaluate the treatment outcome of our patients with neurogenic bladder dysfunction (NGBD). Thirty three patients who have been treated for NGBD were evaluated. Diagnosis was confirmed by voiding-cysto-urethrography (VCUG) and urodynamic study. The patients were treated medically and all had clean intermittent catheterization (CIC). Data regarding age, sex, clinical and paraclinical findings, sonography, imagings, renal scan, associated anomalies, treatment and outcomes were collected and entered in SPSS software version18 and analyzed by descriptive statistical. Totally 33 patients aged three days to four years (mean 6.8 months) were included in this study. There were 20 (61%) males and 13 (39%) females. Mean follow-up period was 3.4±1.2 years (1.5 months to 5 years). Eighty two precent cases had bilatral and 18% unilatral hydronephrosis and bilatral vesicouretral reflux (VUR) existed in 67% and unilatral in 33% of the patients. Treatment consisted of antibiotherapy and CIC in all patients, which was only in 33% of the cases succesful. The most common associated anomaly was meningomyelocle in 8 patients. Vesicostomy was performed in 22 (67%) cases. Kidney scan showed scar in 10 patients at follow-up study. Complete continence on follow-up was achieved in 24 (71%) patients, and it was improved in 6 (18%) cases. Mortality rate was 9% (3 cases). Cure rate was 85% in urinary tract infection, 82.7% in hydronephrosis, 80% in VUR and 86.5% in kidney function. Anticholinergic medications was not effective in all our patients. We believe that permanent vesicostomy is an effective and acceptable surgical intervention for protection of upper urinary tract decompression, especially in those who do not respond to medical treatment and have high risk position.

Sinus of Valsalva-right ventricle fistula is a recognized but very rare complication after surgical repair of subaortic ventricular septal defect. Surgical repair with cardiopulmonary bypass and percutaneous transcatheter closure guided by x-ray has been the traditional treatment for fistula of sinus of Valsalva. Recently, we have used a novel approach, that avoids the need for either secondary open surgical repair or radiation exposure; that is, minimally invasive transthoracic device closure guided by transesophageal echocardiography to occlude an acquired sinus of Valsalva-right ventricle fistula in a 4-year-old patient. To our knowledge, there have been no prior cases reported of this technique applied to close an acquired sinus of Valsalva-right ventricle fistula. This report aims to provide a detailed description of the procedure.