Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.

Congenital sucrase-isomaltase deficiency (CSID) is a rare autosomal carbohydrate malabsorption disorder caused by mutations in the sucrase-isomaltase gene. While the prevalence of CSID is high in the indigenous populations of Alaska and Greenland, it is imprecise and ambiguous in the Turkish pediatric population. In this cross-sectional case-control study, which is retrospective in nature, next-generation sequencing (NGS) results obtained from records of 94 pediatric patients with chronic nonspecific diarrhea were reviewed. Demographic characteristics, clinical symptoms and treatment responses of those diagnosed with CSID were evaluated. We identified one new, homozygous frame-shift mutation and 10 other heterozygous mutations. Two cases were from the same family and nine were from different families. While the median age at onset of symptoms was 6 months (0-12), median age at diagnosis was 60 months (18-192) with a median delay of 5 years and 5 months (10 months -15 years and 5 months) in diagnosis. Clinical symptoms included diarrhea (100%), abdominal pain (54.5%), vomiting after consuming sucrose (27.2%), diaper dermatitis (36.3%) and growth retardation (81%). Our clinical study revealed that sucrase-isomaltase deficiency may have been underdiagnosed in patients with chronic diarrhea in Turkey. In addition, the frequency of heterozygous mutation carriers was significantly higher than that of homozygous mutation carriers and those with a heterozygous mutations responded well to the treatment.

Extraintestinal Manifestations in Children Diagnosed with Inflammatory Bowel Disease.

Objectives: We aimed to evaluate the frequency of extraintestinal manifestations (EIM) in children with inflammatory bowel disease (IBD) and the correlation of EIM with disease activity index, disease type and disease age. Methods: Records of patients who were under the 18 years of age and followed up with the diagnosis of IBD were included in the study. The demographic characteristics of the patients, the age of the patients, the sex of the patients, the type of disease and the age of the disease were recorded. When patients were enrolled in the study disease activity indexes were calculated by examining the physical examination and laboratory values of the patients in their last visits, by using the Pediatric Ulcerative Colitis Activity Index (PUCAI) in Ulcerative Colitis (UC) and the Pediatric Crohn's Disease Activity Index (PCDAI) in Crohn's Disease (CD). Results: It was conducted with a total of 44 patients, 40.9% (n=18) females and 59.1% (n=26) males diagnosed with IBD. The ages of the patients participating in the study ranged from 8 to 19 and the mean was found to be 14.64±3.19 years. According to the type of disease; 27.3% of the patients were CD and 72.7% were UC. When the disease activity is examined; 37.2% were in remission, 37.2% were mild, 16.3% moderate and 9.3% severe. The incidence of EIM in females is 77.8% and 65.4% in males. The incidence of EIM is 75% in CD and 68.8% in UC. Hepatobiliary involvement was detected in 41.5% (n=17) of the patients, joint involvement in 29.5% (n=13), osteopenia in bone in 16.3% (n=7), osteoporosis in 7% (n=3), ocular involvement (uveitis) in 2.3% (n=1) and skin involvement (erythema nodosum) in 2.3% (n=1). Conclusion: EIM are common in childhood IBD patients. It should be kept in mind that EIM are as common in UC as CD.

A Single-Center's Early Surgical Outcomes of Living Donor Liver Transplantation.

BACKGROUND: Living donor liver transplantation (LDLT) has become an increasingly common surgical option because the number of cadaveric donors is insufficient to fulfill the organ needs of patients facing end-stage cirrhosis. Many centers are investigating different surgical techniques to achieve lower complication rates. We aimed to examine our complication rates in light of demographic data, graft data, and perioperative findings as a single-center experience. METHODS: The study included one hundred and three patients who underwent LDLT for end-stage liver cirrhosis. Demographic data; sex; age; blood group; Model for End-Stage Liver Disease score; Child score; etiology; liver side; graft-to-recipient weight ratio; hepatic artery, portal vein, and bile anastomosis type rates; anhepatic phase; cold ischemia time; operation time; and blood product transfusion rates were analyzed. Biliary complications in patients with single or multiple biliary anastomoses, right or left liver transplants, and with or without hepatic artery thrombosis were analyzed statistically. RESULTS: There was no significant difference in biliary complications between patients who underwent single or multiple bile anastomosis (P = .231) or patients receiving right lobe and left lobe transplants (P = .315). Although there was no statistically significant difference in the rate of portal vein thrombosis between the regular and reconstructed portal vein anastomosis groups (P = .693), the postoperative portal vein thrombosis rate was statistically higher in patients with left lobe transplants (P = .044). CONCLUSIONS: Vascular and biliary complication rates can be reduced with increasing experience.

Acute rheumatic fever: 10-year single-center experience: clinical and laboratory findings, with subclinical carditis and treatment complications.

BACKGROUND: Acute rheumatic fever in childhood continues to cause serious morbidity despite all developments. The objective of this study was to evaluate the clinical and laboratory characteristics of patients with acute rheumatic fever and to determine the frequency of subclinical carditis and the side effects of the drugs used in the treatment. METHODS: The data of patients hospitalised between 2008 and 2018 with the diagnosis of acute rheumatic fever were included in the study. The relationship of gender and age with the frequency of major symptoms and the distribution of the drugs used in the treatment and their side effects were evaluated. RESULTS: Medical records of 102 patients with complete data were reviewed. 56.9% of the patients were male and the mean age was 10.7 ± 1.9 years. The most common distribution of complaints found were arthritis (51%), arthralgia (25.5%) and fever (16.7%). 10.8% of all patients (n = 11) were diagnosed subclinical carditis via echocardiographic evaluation. The frequency of carditis was higher in female patients with a borderline statistical significance (p = 0.05). However, there was no statistically significant difference between gender and arthritis (p = 0.22) and carditis (p > 0.05). Anti-congestive therapy was required in 22% and inotropic treatment was needed in 6.1% cases. Toxic hepatitis developed in four cases during the acetylsalicylic acid treatment. CONCLUSIONS: In a 10-year period, detection of subclinical carditis in 10.8% cases supported that echocardiography should be performed as a standard method for the diagnosis of acute rheumatic fever. Patients should be followed closely in terms of hepatic toxicity due to acetylsalicylic acid used in the treatment.

Percutaneous Endoscopic Gastrostomy Feeding in Children with Cerebral Palsy.

AIM: The prevalence of congenital cerebral palsy (CP) worldwide ranges from 0.15 to 0.4%. CP causes several gastrointestinal complications that inhibit normal eating behavior. This single-center observational study aimed to determine the tolerability and benefits of percutaneous endoscopic gastrostomy (PEG) in pediatric CP patients with malnutrition. MATERIALS AND METHODS: The study included 41 pediatric CP patients with malnutrition. All patient data were retrospectively obtained from Bakirköy Dr. Sadi Konuk Research and Training Hospital, Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Istanbul, Turkey. In addition to baseline measurements of weight, height, triceps skinfold thickness, 1,25-hydroxyvitamin D3, folate, iron, zinc, vitamin B12, hemoglobin, and mean corpuscular volume, data analyzed included follow-up measurements recorded at 3 and 6 months of PEG (standard polymeric enteral supplementation as 1.0 kcal mL-1). RESULTS: There was significant improvement in both height, weight, and triceps skinfold thickness in all patients at 3 and 6 months of PEG (p < 0.05). In terms of blood parameters, there was not significant improvement, except that the number of patients with a low hemoglobin count significantly decreased at 3 and 6 months of (p = 0.022). Moreover, the number of patients with vomiting after PEG also significantly decreased at 3 and 6 months of (p = 0.004). CONCLUSION: PEG significantly improves malnutrition in pediatric CP patients and does not cause any major complications. Based on these findings, we think PEG is a beneficial and cost-effective intervention with a high rate of tolerability in pediatric CP patients with malnutrition.

Clinical and Laboratory Characteristics of Patients with Food Allergy: Single-Center Experience.

OBJECTIVES: This study aimed to examine the clinical and laboratory features of the patients diagnosed with food allergy who applied to the pediatric allergy outpatient clinic. METHODS: This study was performed between March 2016 and December 2017 as a cross-sectional observational study. The files of 90 patients with food allergy were evaluated retrospectively. RESULTS: Ninety patients were included in the study. Sixty three (70%) of the cases were male and 27 (30%) were female. The median age of the patients was 12 months (range 3-156), and the age at onset of symptoms was 4 months (1-156). At the time of the diagnosis, the total number of eosinophils was 410/mm3 (0-4600), and the total IgE value was 83.1 IU/ml (3.17-2500). When the cases were divided into two groups according to their gender, no significant difference was found between the groups regarding the median age, onset age of the symptoms, total IgE, eosinophil and specific IgE levels. Fifty (55.6%) cases had atopic dermatitis, 31 (34.4%) had urticaria, 6 (6.7%) had proctocolitis, 2 (2.2%) had angioedema and 1 (1.1%) had anaphylaxis. Thirty-four (37.8%) of the cases had IgE-mediated, six (6.7%) cases had non-IgE mediated, and 50 (55.5%) cases had mixed type food allergy. The most common food allergens were egg 29 (32.2%), cow's milk and egg 27 (30%) and cow's milk 22 (24.4%). In the skin prick test, sensitivity was found in 52 (57.7%) patients. The most common sensitization was against egg (22.2%). Specific IgE values were found as F1: 0.87 kU/L (0.10-100), F2: 0.30 kU/L (0.10-96.90) and F5: 0.48 kU/L (0.10-53). CONCLUSION: Egg and cow's milk allergy were the most common food allergens in our study. However; more than half of the patients were diagnosed with atopic dermatitis. Evaluation of the patients with atopic dermatitis in terms of food allergy may be appropriate.

Wilkie's syndrome admitted for acute abdomen: A case presentation.

Superior mesenteric artery syndrome, also known as Wilkie's Syndrome, is a life threatening clinical entity which developes as a result of obstructed second or third part of duodenum compressed between aorta and superior mesenteric artery. In this rare syndrome, a rapid weight loss is accompanied by stomach ache, abdominal distension, lack of appetite, nausea and vomiting after meals. In patients admitted for acute abdomen, superior mesenteric artery syndrome should be included in the differential diagnosis in case of a preceeding rapid weight loss. X-ray of barium passage, abdominal ultrasound, gastroscopy, abdominal angio-tomography or abdominal magnetic resonance angiography may be useful for diagnosis. Conservative and surgical approaches are available for the treatment. In this report we aimed to emphasize that superior mesenteric artery syndrome cases may admit for acute abdomen and that superior mesenteric artery syndrome should be included in differential diagnosis.

A rare cause of vomiting: annular pancreas.

Annular pancreas is a rare congenital anomaly that consists of a ring of pancreatic tissue partially or completely encircling the second part of the duodenum. It can affect anyone from neonates to adults, and is difficult to diagnose because it can present in a wide range of clinical conditions. Although cases have also been reported in adults, symptomatic cases are often referred in infancy or early childhood. A 17-year-old female patient who was diagnosed as having annular pancreas is reported. The patient had had non-bilious vomiting accompanied by abdominal pain, especially 5-10 minutes after meals, for seven years. Annular pancreas, which may be seen at any age, should be considered in the differential diagnosis of patients with non-bilious vomiting, particularly after meals, over a long period.

Corrosive Esophagitis with Benzalkonium Chloride in a Two Days Old Neonate.

Benzalkonium chloride (BAC) is a caustic agent which is used in farms, homes and hospitals for cleaning skin and wounds as an antiseptic solution. It may lead to digestive system injuries in case of ingestion. We present a two-days-old newborn case which was carried to the emergency unit with complaints of poor breastfeeding, uneasiness and crying for 4-6 hours. Her mom confessed that she had given a spoon of 10% BAC solution for her cough. Initial laboratory tests were in normal ranges. A gastroscopy performed in the second hour of her admission revealed an hyperemic and edematous mucosa in the middle third of esophagus and a circumferential ulceration followed in the distal portion. Hereupon, a conservative treatment for 10 days was administered and the control gastroscopy demonstrated that the damage was almost totally improved. She was the youngest case with this etiology and successfully treated with conservative approach.

Necrotizing fasciitis of the perineum.

BACKGROUND: Necrotizing fasciitis is a severe soft tissue infection characterized by rapidly progressing necrosis, involving subcutaneous tissues. This rare condition carries a high mortality rate and requires prompt diagnosis and urgent treatment with radical debridement and antibiotics; but early diagnosis, which is essential to successful treatment, remains a challenge. METHODS: Physical examination findings, preoperative and operative findings, histopathological results of the structure, and follow-up results of the patient are discussed with related reports. RESULTS: A 15-month old girl had a history of trivial perineal dermatitis after treatment of anemia and pneumonia. Perineal dermatitis progressed fastly as necrotizing fasciitis which was successfully managed with intensive medical treatment, surgical debridement and reconstructive surgery. CONCLUSIONS: Lack of cutaneous findings early in the disease makes the diagnosis challenging, so a high suspicion is essential. Recovery of the patient from this life-threatening condition needs a multi-disciplinary approach involving pediatrics, pediatric surgery, and plastic and reconstructive surgery.

Allergic myocardial infarction in childhood: Kounis syndrome.

Kounis Syndrome was first described by Kounis as "allergic angina syndrome" progressing to "allergic myocardial infarction". This report describes the first children in the literature presented with Kounis syndrome.

Broken heart syndrome in a 17-year-old girl.

Broken heart syndrome is characterized by transient left ventricular dysfunction with chest pain, electrocardiographic changes, and release of myocardial enzymes mimicking acute myocardial infarction. Physical and emotional stress usually precede the onset of symptoms. This dysfunction, known as takotsubo cardiomyopathy (TC), has been observed predominantly in women older than 60 years of age but very rarely reported in younger adults or children. Here we describe a 17-year-old girl with TC.

Kounis syndrome secondary to amoxicillin/clavulanic acid use in a child.

The concurrence of acute coronary syndromes with allergic or hypersensitivity as well as with anaphylactic or anaphylactoid reactions is increasingly encountered in clinical practice and there are several reports associating mast cell activation with acute cardiovascular events in adults. It was first described by Kounis as "allergic angina syndrome" progressing to "allergic myocardial infarction". The main mechanism proposed is the vasospasm of coronary arteries. This condition has not been described in childhood. We present a 13-year-old boy, admitted to our hospital with thoracic pain, 30 min after the ingestion of an oral dose of 500 mg of amoxicillin/clavulanic acid.