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Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II. Cystic fibrosis is a common autosomal recessive genetic disorder in Caucasians. Herein, we reported a rare clinical association in an infant diagnosed based on clinical and genetic analysis. A six-month old boy admitted with chronic steatorrhea. The diagnosis of cystic fibrosis was made after clinical and laboratory examinations. Fifteen days later, the patient was presented with restlessness and moaning. He had hypoglycemia and lactic acidosis. The patient died three hours after the admission. Pedigree analysis revealed similar sudden infant deaths in close relatives. Postmortem genetic analysis revealed the diagnosis of Barth syndrome. This is the first case of the association of Barth syndrome with cystic fibrosis. Our case reinforces the importance of pedigree analysis and postmortem examinations. [ABSTRACT FROM AUTHOR]

Acute pancreatitis (AP) is an inflammatory disease characterized by sudden onset abdominal pain together with elevation of pancreatic enzymes and radiographic changes. Increased incidence of AP in children have been reported in recent reports. In this study; we aimed to analyze the demographic characteristics, etiology, outcome and incidence of AP among hospitalized children in our center. Medical records of the children with AP since January 2005 were analyzed from hospital files (N=63). Major etiologies were systemic diseases (14.3%), trauma (11.1%), cholelithiasis (9.5%); 54% (N=34) of the patients had mild AP, while 28.6% (N=18) had moderately severe AP and 17.4% (N=11) had severe AP. Organ dysfunction was found in 11 patients (17.4%) at initial examination. During the follow-up period (68.1±24.3 months), 10 patients (15.9%) experienced 24 recurring AP (RAP) attacks. Male gender, presence of local pancreatic or systemic complications at initial attack, metabolic and hereditary diseases were associated with the increased risk of RAP (p<0.05 for all). The mortality rate associated with AP was 4.84%. There was an increase in the incidence of AP since 2010 (9.57 in 2009-2010 vs. 39.17/10,000 patients in 2015-2016 years; p=0.0002; OR: 4.1) among the hospitalized patients. Our results indicate that AP is a mild disease in children and the incidence is increasing among hospitalized children. Male gender, presence of local pancreatic or systemic complications at initial attack, metabolic diseases and hereditary diseases were associated with the increased risk of RAP. [ABSTRACT FROM AUTHOR]

Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar protein sorting 33B (VPS33B) gene on chromosome 15q26.1. Herein, we report a female newborn with ARC syndrome caused by homozygous mutations in VPS33B [IVS1-2A>C (c.97-2A>C)]. [ABSTRACT FROM AUTHOR]

Esophageal eosinophilia (EE) and eosinophilic esophagitis (EoE) are emerging clinical entities, the prevalence of which has increased during the last 15 years. However, there is a lack of data concerning the etiology and outcomes of EE in children. The aim of this study was therefore to analyze the clinical findings and outcomes of children with EE and EoE in our pediatric gastroenterology unit over a 6-year period. The study included children undergoing esophagogastroduodenoscopy (EGD) during this 6-year period (January 2010 to December 2015) in our pediatric gastroenterology unit. The files of patients with EE were re-evaluated in detail to elicit demographic features, clinical, laboratory and histopathological findings, treatment modalities and outcomes. EE was determined in 33 patients [0.95% (95% CI: 0.63-1.27) among all children, and in 4.66% (95% CI: 3.11-6.21) of children undergoing esophageal biopsy] (8.6±4.2 years and 72.7% male). EoE was the most common cause of EE (n=11, 33.3%), followed by eosinophilic gastroenteropathy (n=6, 18.1%) and proton pump inhibitor responsive esophageal eosinophilia (n=4, 12.1%). Patients with EoE (n=11) were followed up for 21.2±18 (range: 1-60) months, and treatment was discontinued in 2 patients (18.1%). Additionally, 5 patients (45.5%) received diet elimination only and 1 patient (9%) received a combination of low dose steroids and diet. Three patients (27.2%) are still being treated under the initial regimen. The overall incidence of EE increased in 2014-2015 compared to 2010-2011 (0.41% vs. 1.33, p=0.047, OR: 3.22 and 95% CI: 0.94-10.98, p=0.06). EE is an increasingly common clinical entity with a wide spectrum of etiology and clinical presentations in children. [ABSTRACT FROM AUTHOR]

The aim of the study was to analyze the accuracy of (i) HLA-DQ typing and anti-tissue transglutaminase antibodies immunoglobulin A (tTG-IgA) serology and (ii) a "simple scoring system" (SSS) for the diagnosis of celiac disease (CD). The study included 91 patients with positive tTG-IgA, who had been tested for HLA-DQ. Patients were divided into 3 groups: typical CD, atypical CD, and non-CD. The sensitivity, specificity, positive (PPV) and negative predictive value (NPV), positive (PLR) and negative likelihood ratio (NLR) and accuracy of the test combining genotyping and tTG-IgA positivity and the simple scoring system for the diagnosis of CD were evaluated. The combination of genotyping and strong tTG-IgA positivity had a sensitivity of 93.5%, specificity of 61.5%, PPV of 93.5%, NPV of 61.5%, PLR of 2.4, NLR of 0.1 and accuracy of 89% for "CD." SSS had a higher specificity (84.6%), higher PPV (97.3%), higher NPV (68.7%), higher PLR and higher accuracy (92.3%). The combination of genotyping and strong tTG-IgA positivity missed two patients with typical CD (4%) and three patients with atypical CD (10.7%). Two cases with malabsorptive symptoms (33.3%) and three patients without malabsorptive symptoms (42.8%) would have been misdiagnosed as CD if these tests were used. Intestinal biopsy is still mandatory for diagnosis of CD in Turkish children. [ABSTRACT FROM AUTHOR]

Acute liver failure (ALF) is a relatively rare condition in neonates, and earl diagnosis and treatment are crucial for the treatable conditions. Neonata hemochromatosis (NH) is a rare clinical condition that is clinically defin as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosi Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome Despite aggressive treatment, some patients may require liver transplantation We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successful treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis an aggressive treatment are important as in galactosemia or tyrosinemia for th outcome. Thus, NH may be listed as a treatable cause of ALF in neonates. [ABSTRACT FROM AUTHOR]

We aimed to evaluate general features of children with chronic constipation and classified them according to the Iowa criteria and Rome II criteria in order to analyze applicability of these criteria in our population. The medical records of 485 children who were referred for chronic constipation over a six- year period were evaluated retrospectively. We found that 7.7% of the cases had an organic pathology, and short segment Hirschsprung disease was the leading cause. Other children (92.3%) were classified as functional constipation, with a mean age of 6.4±4 years and with slight male dominance. Encopresis was found in 117 children (51.7%) aged over four years, and was associated with older age, male predominance and long duration of symptoms. Both of the classification systems showed a similar prevalence of constipation, but 9.9% of the children with pediatric constipation were not recognized by Rome II criteria. Additionally, 1.8% of the children were not recognized by either Iowa or Rome criteria. Functional constipation is common in primary care, and most of the children were school-aged. Constipation associated with encopresis and nutritional problems such as obesity is less common in developing countries. Rome II criteria are too restrictive and do not recognize approximately 12% of the children. A new classification system must be simple, easy to understand especially by the primary care physician, and must include the common features of constipation recognized by the parents. [ABSTRACT FROM AUTHOR]

Foreign body ingestion (FBI) is a common problem in the pediatric population. Even though morbidity and mortality due to foreign body ingestion are rare in childhood, they may cause serious anxiety in parents. We aimed to analyze the clinical presentation, etiology and management strategy of FBI in children in our country. Records of children admitting with a history of FBI over a three-year period were reviewed retrospectively. Data regarding gender, age, type of the ingested body, management strategy and outcome of the patients were recorded. Of 176 children, 98 (55.6%) were male. Mean age±SD of the patients was 3.75±4.25 years, and most of the patients were below four years of age (71.5%). Most of the children (64.7%) were seen within 48 hours, and most were asymptomatic. Blue beads attached to a safety pin (a cultural good luck charm) (38.6%), coins (27.8%) and turban pins (18.1%) were the most commonly observed foreign bodies. The blue beads/safety pin were found to be ingested primarily by infants, while ingestion of turban pins was mostly seen in adolescent girls who covered their heads. Localization of the foreign bodies was in the distal small intestine, stomach and esophagus in 61.4%, 23.8% and 14.7% of the cases, respectively. Sixty-nine endoscopic interventions were performed in 61 patients (34.6%), and these accounted for 7.3% of all endoscopic interventions during the three-year period. No major complication was observed during the procedure, and none of the patients underwent surgery. The frequently used accessory devices were retrieval net basket (57.9%), snare for pins (17.3%), tripod forceps and rat-tooth forceps. The blue beads/safety pin and turban pin were the commonly ingested foreign bodies in our center due to cultural factors. Education of the parents and of adolescent girls should greatly reduce the incidence of FBI. Endoscopic removal is safe without any major complications. [ABSTRACT FROM AUTHOR]