A Rare Case of Childhood Malformations, Abernethy Syndrome: Literature Review and Presentation of Two Cases.

Abernethy syndrome is a rare congenital vascular anomaly. In this condition, blood from the portal system is diverted to the caval system through a portocaval shunt, entirely or partially bypassing the liver. Prevalence figures in the literature range from 1 per 30000 population up to 1 per 50000 population.

Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?

Background: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.

Megabulbus in endoscopy; suspect for superior mesenteric artery syndrome in children.

Rarity of Superior Mesenteric Artery Syndrome (SMAS) and necessity of invasive tests to verify the diagnosis leads to patients receiving symptom-oriented drugs for a long period without any definite diagnosis. Diagnostic tests such as barium series, abdominal CT scan, abdominal angiography or magnetic resonance arteriography are used in patients with suspected SMAS. In pediatric patients, a non-invasive SMAS diagnosis may be considered easily with abdominal ultrasound performed by experienced hands.

An insight into the relationships between prohepcidin, iron deficiency anemia, and interleukin-6 values in pediatric Helicobacter pylori gastritis.

Unlabelled: 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.

Two cases of esophageal eosinophilia: eosinophilic esophagitis or gastro-esophageal reflux disease?

Eosinophilic esophagitis (EoE) and gastroesophageal reflux disease are among the major causes of isolated esophageal eosinophilia. Isolated esophageal eosinophilia meeting criteria for EoE may respond to proton pump inhibitor (PPI) treatment. This entity is termed proton pumps inhibitor responsive esophageal eosinophilia (PPI-REE).

Resolution of inflammatory colitis with pegfilgrastim treatment in a case of severe congenital neutropenia due to glucose 6 phosphatase catalytic subunit-3 deficiency.

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.

Eosinophilic esophagitis and anaphylaxis due to cow's milk in an infant.

Food allergies are often seen in infancy and usually show the clinical signs in the form of type I hypersensitivity reaction. However, a combination of food allergies can sometimes be found in the same patient. In this report, we present an 11-month-old infant who had a combination of anaphylaxis and eosinophilic esophagitis induced by cow's milk.

A Case of Food Protein-Induced Enterocolitis Triggered by Wheat.

Food protein-induced enterocolitis syndrome (FPIES) is an under-recognized and frequently misdiagnosed non-IgE-mediated gastrointestinal food hypersensitivity disorder. We describe the first case of FPIES only to wheat confirmed by an oral food challenge (OFC). The male patient, who was breast fed for the first 2 months, and then was feeding with cow's milk-based formula until he became 4.

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

Background & Aims: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with obesity, severe malabsorptive diarrhea, and certain endocrine abnormalities. Common variants in PCSK1 also have been associated with obesity in heterozygotes in several population-based studies. PC1/3 is an endoprotease that processes many prohormones expressed in endocrine and neuronal cells.

Platelet usage trends in a tertiary care hospital - Could it be less and less expensive?

Major bleeding is a life threatening complication of severe thrombocytopenia. The aim of this study was to find out the indications and the threshold for platelet transfusions in the pediatric patients of our hospital throughout 1 year. Records of the hospital's blood bank and the files of the patients were retrospectively reviewed.

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

Background & Aims: Homozygous loss of function mutations in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) cause severe infantile (very early onset) inflammatory bowel disease (IBD). Allogeneic hematopoietic stem cell transplantation (HSCT) was reported to induce sustained remission in 1 patient with IL-10R deficiency. We investigated heterogeneity among patients with very early onset IBD, its mechanisms, and the use of allogeneic HSCT to treat this disorder.

The first experience of eosinophilic esophagitis in Turkish children.

Background/aims: Eosinophilic esophagitis is a rare allergic disease of the esophagus with no published data in Turkish children.

Methods: This is an observational study of children diagnosed as eosinophilic esophagitis in our hospital between February 2009 and January 2011. We retrospectively analyzed the clinical features, allergic work-up, endoscopic and histological findings, and response to treatment.

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA.

Hepatoportal sclerosis in childhood: some presenting with cholestatic features (a re-evaluation of 12 children).

Hepatoportal sclerosis (HPS) is a syndrome of obscure etiology, and is one of the causes of noncirrhotic portal hypertension (PH). We aimed to investigate this heterogeneous group of patients whose presentation showed cholestatic features, histopathologically. Between 1999 and 2009, 12 children diagnosed with HPS were retrospectively evaluated.

A comparison of fentanyl with tramadol during propofol-based deep sedation for pediatric upper endoscopy.

Aim: This study was conducted to compare the efficacy and safety of tramadol with those of fentanyl and to evaluate the impact of age in pediatric patients undergoing upper gastrointestinal endoscopy (UGIE).

Methods: Eighty patients with ASA I-II, aged 1-16 years, undergoing UGIE were included in this study. Baseline anesthesia was maintained with 1 mg·kg(-1) propofol, and then, the patients were randomly assigned to receive 2 μg·kg(-1) fentanyl (group F, n = 40) or 2 mg·kg(-1) tramadol (group T, n = 40).

Normal defecation pattern, frequency of constipation and factors related to constipation in Turkish children 0-6 years old.

Background/aims: The aim of this study is to figure out defecation features, constipation frequency, reasons and factors effecting on functional constipation in 0-6 years old children.

Material And Methods: This descriptive study had been carried out in Gazi University School of Medicine Pediatric polyclinics between February-June 2007 and 1018 children aged 0-6 years were included. The study comprises data about defecation pattern and prevalence of constipation.

Congenital chloride diarrhea misdiagnosed as Bartter syndrome.

Congenital chloride diarrhea is the most frequent secretory-type diarrhea during the infantile period in the presence of normal intestinal mucosa. The disease has an autosomal recessive inheritance. Although approximately half of the reported cases to date are from Finland, a much higher incidence has been reported among Arabic people.

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months--a Turkish cohort study.

Background/aims: Infantile persistent diarrhea series are not well documented in the literature. Evaluating the literature, the aim of this study was to document persistent diarrhea cases followed in our center and to constitute a practical diagnostic algorithm for the pediatrician by means of surveying methods.

Methods: Diarrheas lasting more than 14 days were accepted as persistent diarrhea.

Prevalence of celiac disease in healthy Turkish school children.

Objectives: Epidemiological studies of celiac disease (CD) in Turkey have been performed only within some regions of the country. The aim of this study was to determine the prevalence of CD in Turkish school children.

Methods: Between 2006 and 2008, serum samples were collected from 20,190 students (age range, 6-17 years) in 139 schools in 62 cities from different regions of Turkey.

Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis.

Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age.

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend the pattern of TTC37 mutations by the description of 11 novel mutations in 9 patients with a typical THE syndrome.