A Rare Cause of Severe Abdominal Pain in Children: Hereditary Angioedema

Hereditary angioedema (HA) is an autosomal dominantly inherited disease characterized by recurrent angioedema attacks. Angioedema is frequently seen in the arms and legs, the neck, the airways, in the genital region and in visceral organs. Edema of the intestinal mucosa can lead to transient obstruction and severe abdominal pain that can mimic acute abdomen. This can result undergoing unnecessary surgery in the patients. We presented a 15 years old girl that admitted to the emergency department due to sudden onset colic-type abdominal pain. The patient's mother had previously under gone surgery three times with the same findings who has been followed up HA. We report this case to emphasize that patients with HA may present to emergency departments with severe abdominal pain related to intestinal involvement and with findings of acute abdomen

Prevalence of celiac disease in children with joint hypermobility.

Introduction: Generalized joint hypermobility is a clinical feature that is associated with excessive joint laxity, which can occur alone or with various inherited disorders. The term of benign joint hypermobility or joint hypermobility is used when the presence of musculoskeletal symptoms in subjects with generalized joint hypermobility in the absence of demonstrable systemic rheumatic diseases. In recent studies, it was shown that there is a strong relationship between structural and functional gastrointestinal disorders and joint hypermobility. We aimed to analyze the prevalence of celiac disease in a group patient with joint hypermobility. Patients and methods: The study included the 2 groups of children (i) Group 1; patients with joint hypermobility that were followed in pediatric rheumatology outpatient clinic (n=131). (ii) Group 2; healthy children without known chronic diseases (n=995). Demographic features, clinical findings, accompanying symptoms and anthropometric measurements of all patients were recorded. All cases were screened for celiac disease by serological marker and histopathological examinations if serological marker was positive. Results: There was no difference between two groups for age, gender, presence of malnutrition and accompanying symptoms (p>0.05). Serology positivity of anti-tissue transglutaminase IgA >20 RU/ml was found in seven patients with joint hypermobility. After histopathological examinations, asymptomatic celiac disease was detected in one (n=1, 0.9%) and potential celiac disease in six patients (n=6, 5.3%). There were six (0.6%) patients with positive serology in the control group. Celiac serology positivity and potential celiac disease were higher in patients with joint hypermobility (6.2%, vs. 0.6%, OR: 10.9, 95% CI: 3.6-33, p < 0.001 and 5.3%, vs. 0.4%, OR: 13.9, 95% CI: 3.6-50, p < 0.001, respectively), but no significant difference was found on the prevalence of asymptomatic celiac disease (0.9%, vs. 0.2%, OR: 4.4, p=0.22). Conclusion: Our study shows the increased prevalence of potential celiac disease in patients with joint hypermobility. Serological screening of celiac disease is recommended for to rule out organic problems in the presence gastrointestinal symptoms in patients with BJH

Accessory Hepatic Lobe: A Rare Cause of Prehepatic Portal Hypertension in a Child

Accessory hepatic lobe is noted as and considered a rare disease in children. It can manifest with various symptoms and complications depending on the location, volume, type and position of the disease as presented on a child. The patient presented as a 14-month-old girl who was seen with a notable hepatosplenomegaly and portal hypertension. A diagnosis was made after taking an extensive medical history, observation and radiological examinations. The formal diagnosis was a prehepatic portal hypertension associated with accessory hepatic lobe

Low isolated ferritin levels without anemia: is gastrointestinal tract endoscopy sufficient to explain the cause?

Aim The present study assesses the diagnostic significance of low ferritin levels in gastrointestinal diseases by evaluating the endoscopic findings of patients with low ferritin levels without anemia. Method The study included patients aged 0-18 years who underwent an upper and lower gastrointestinal system endoscopy in the Pediatric Gastroenterology Department of our hospital. The patients were divided into three groups based on hemoglobin, and ferritin levels at the time of initial presentation and endoscopic and histopathological findings were recorded retrospectively. Results In the present study, 2391 pediatric patients were reviewed, among which 29% (n = 699) had anemia, 23% (n = 549) had low ferritin levels without anemia, and 48% (n = 1143) did not have anemia. The most common symptoms were abdominal pain, dyspepsia, and growth retardation. When the endoscopy findings were compared with those of patients with non-anemic group, Helicobacter pylori gastritis (24%/17.6%) and celiac disease (6%/2.2%) were more common in low ferritin levels without anemia, which indicated a statistically significant difference (p = 0.000/p = 0.04). Conclusions Helicobacter pylori gastritis and celiac disease were more commonly observed in association with low ferritin levels. Low ferritin levels without anemia can be an early and silent sign of celiac disease

Ileocolonic Lymphonodular Hyperplasia in Children Related to Etiologies Ranging from Food Hypersensitivity to Familial Mediterranean Fever

Objective:We aimed to share our observations on the demographics, clinical characteristics, and outcomes of lymphonodular hyperplasia (LNH) in children.Subjects and Methods:The study included children on whom colonoscopy was performed between January 2015 and May 2018 (n= 361). Demographics, treatment modalities, and outcomes of the patients with LNH were recorded.Results:LNH was found in 66 patients (18.3%; mean age 8.6 +/- 5.96 years, 59.1% male). We found that the etiologic factors were food hypersensitivity (FH) in 25 (37.8%), nonspecific colitis in 12 (18.2%), irritable bowel syndrome in 10 (15.2%), familial Mediter-ranean fever in 7 (10.6%), primary immunodeficiency in 4 (6.1%), and intestinal dysmotility, oxyuriasis, Crohn's disease, and giardiasis in 1 (1.5%) patient. Additionally, in the genetic analysis of patients with idiopathic LNH (n= 4), we detected heterozygoteMEFVmutations in all. Cow's milk and egg (25%) were the most common allergens in patients with FH. Symptoms of all patients (n= 25) improved after an elimination diet.Conclusions:LNH is a common finding in pediatric colonoscopies with a variety of etiologies ranging from FH and familial Mediterranean fever to immunodeficiency

A rare clinical association: Barth syndrome and cystic fibrosis

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

Acute liver failure associated with metabolic diseases: A 10-year single-center experience

Background Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF

Acute liver failure associated with metabolic diseases: A 10‐year single‐center experience

Background Acute liver failure (ALF) is a rare multisystemic disease occurring in individuals with no history of liver disease, characterized by coagulopathy and / or hepatic encephalopathy secondary to acute liver injury. It is mostly caused by viral infections, drug intoxication, and metabolic diseases (MD), and can also have an indeterminate etiology. In this study, we aimed to evaluate the demographic and clinical characteristics and clinical outcomes of the patients that presented to our clinic with MD-associated ALF

Acquired noncaustic esophageal strictures in children

© 2020 by The Korean Pediatric Society.Background: Esophageal stricture (ES) is an uncommon clinic entity in pediatrics that may be congenital or acquired in childhood. Acquired noncaustic ES is very rare, and clinical features of affected patients are unknown. Purpose: We aimed to evaluate the clinical findings, and outcomes of patients with acquired noncaustic ES to aid physicians in the early referral of patients to gastroenterologists. Methods: The medical data of patients with acquired noncaustic ES who were followed in our gastroenterology clinic between January 2009 and December 2019 were reviewed. Results: Acquired noncaustic ES was found in 12 of the 4,950 patients (0.24%) who underwent endoscopy during the study period. The main symptoms were dysphagia (58.3%), vomiting (33.3%), and chronic anemia (8.3%). Chronic malnutrition and underweight were found in 66.6% of the patients. The most common etiological factors were radiotherapy, peptic reflux, and achalasia (16.6%, each), while chemotherapy, squamous-cell carcinoma (SC) of the esophagus, eosinophilic esophagitis (EoE), esophageal web, epidermolysis bullosa, and esophageal diverti-culum (8.2%, each) were the other etiological factors. Patients with EoE underwent endoscopic bougie dilation in addition to steroid use and elimination diet. Patients with epidermolysis bullosa and esophageal web underwent bougie dilation. Patients with peptic reflux-related ES were initially put on antireflux therapy, but during follow-up, one patient required esophageal replacement with colonic interposition. Patients with radio-therapy-related ES recovered with medical therapy. The patient with initially underwent surgical gastrostomy and tumoral mass excision. The patient then received chemotherapy and radiotherapy and underwent jejunal interposition. Patients with achalasia underwent surgical esophagomyotomy. Conclusion: The presence of solid dysphagia, malnutrition, and an associated disease may alert physicians to the presence of ES

Altered von Willebrand Factor and ADAMTS13 Levels in Children With Cirrhosis and Extrahepatic Portal Hypertension

Background/Aim: This study was concerned with whether vWF (von Willebrand factor) and a disintegrin and metalloprotease with a thrombospondin type 1 motif, member 13 (ADAMTS13) has altered in patients with cirrhosis and extrahepatic portal hypertension (EPH). We aimed to investigate changes to vWF and ADAMTS13 in children with cirrhosis and EPH. Patients and Methods: This study was conducted between January and October 2019 with both cirrhosis and EPH patients and with healthy volunteers. The von Willebrand factor antigen (vWF:Ag), von Willebrand Ristocetin cofactor (vWF:RCo), and ADAMTS13 antigen and activity were studied. Results: Twenty-eight children with cirrhosis, 16 children with EPH, and 20 healthy controls were included in the study. vWF:Ag and vWF:RCo levels were higher in patients with cirrhosis than in healthy controls (171.65 +/- 101.67 vs. 85.86 +/- 30.58, P<0.01 and 121.62 +/- 55.83 vs. 61.52 +/- 27.03, P<0.01, respectively). vWF:Ag and vWF:RCo levels were higher in patients with EPH than in healthy controls (133.93 +/- 80.13 vs. 85.86 +/- 30.58, P<0.01 and 103.18 +/- 58.55 vs. 61.52 +/- 27.03, P=0.02, respectively). The ADAMTS13 antigen and activity levels were lower in patients with cirrhosis than in healthy controls (0.58 +/- 0.23 vs. 0.97 +/- 0.15, P<0.01 and 49.91 +/- 22.43 vs. 86.51 +/- 22.07, P=0.02, respectively). The ADAMTS13 antigen and activity levels were lower in patients with EPH than in healthy controls (0.69 +/- 0.11 vs. 0.97 +/- 0.15, P=0.03; and 68.50 +/- 13.29 vs. 86.51 +/- 22.07, P=0.02, respectively). The increase in vWF and the decrease in ADAMTS13 were more pronounced in cirrhotic patients with autoimmune hepatitis (AIH) than in non-AIH patients. Conclusions: While levels of vWF:Ag and vWF:RCo increased in children with cirrhosis and EPH, levels of the ADAMTS13 antigen and ADAMTS13 activity decreased. These alterations were more pronounced in patients with AIH-derived cirrhosis