Gönül Dinler

Celiac disease in 87 children with typical and atypical symptoms in Black Sea region of Turkey

BackgroundCeliac disease presents with a spectrum of clinical disorders. The variety of clinical presentations largely depends on age and extraintestinal findings. This study aimed to determine typical and atypical cases according to presenting symptoms and to evaluate their biochemical and pathological parameters.MethodsEighty-seven patients with celiac disease in our unit between 2000 and 2007 were reviewed. Their diagnosis was made by serological and histological examination. The patients were divided into two groups according to their typical or atypical symptoms.ResultsThe mean age of the patients at diagnosis was 8.2 years (range, 1–18 years), but patients presenting with typical symptoms were younger than those presenting with atypical symptoms. The patients in the two groups did not differ significantly in sex, weight and height Z scores except age. Diarrhea (96.3%), abdominal distention (65.4%) and failure to thrive (60%) were the most common clinical presentations in the typical group, and short stature (62.5%) and anemia (31.2%) were the most common in the atypical group. Total/subtotal villous atrophy was significantly higher in the typical group than in the atypical group.ConclusionsMany children with celiac disease show an atypical form. The understanding of presentations of celiac disease may prevent delayed diagnosis. Celiac disease should be specially investigated in patients with recurrent iron deficiency anemia, short stature and autoimmune disorders.

Gluconeogenesis Defect Presenting With Resistant Hyperglycemia and Acidosis Mimicking Diabetic Ketoacidosis

Fructose-1,6-diphosphatase (FDPase) enzyme deficiency is a rare inherited metabolic disease. Affected patients usually present with metabolic crisis including hypoglycemia, acidosis, ketonuria, and hyperuricemia. A previously healthy 8-month-old male infant presented with fever, vomiting, and hypoactivity. He had tachycardia, tachypnea, and a tendency to sleep. The patient had signs of severe dehydration and shock. Laboratory findings revealed significant lactic acidosis, hyperuricemia, hyperglycemia, elevated liver enzyme level, and hyperlipidemia. The urine analysis had evidence of glycosuria and ketonuria. Hyperuricemia, lactic acidemia, and hyperglycemia persisted despite insulin infusion, adequate hydration, and perfusion. Consequently, peritoneal dialysis was started. About 12 hours after dialysis, his metabolic derangements were normalized, and clinical status was improved dramatically. His metabolic disease workup was compatible with FDPase deficiency. Here, we described a metabolic attack of FDPase deficiency presented with hyperglycemia mimicking diabetic ketoacidosis.

Inflammatory bowel disease in Turkish children

BackgroundThis study was undertaken to evaluate demographics, clinical manifestations, laboratory findings and outcomes of children with inflammatory bowel disease (IBD) in Turkey.MethodsWe analyzed the medical records of 127 children diagnosed with IBD (under 18 years old) between January 2004 and January 2012 in 8 pediatric gastroenterology centers.ResultsOf the 127 patients, 90 (70.9%) suffered from ulcerative colitis (UC), 29 (22.8%) from Crohn’s disease (CD), and 8 (6.3%) from IBD unclassified. The mean age of the 127 patients was 11.6±4.1 years, and 11.8% of the patients were below 5 years old. Of the patients, 49.6% were male, and males were more predominant in patients with CD than in those with UC (72.4% vs. 42.2%, P=0.008; a male/female ratio of 2.62 in CD, P=0.0016). Approximately one fifth of the patients had extra-intestinal manifestations and 13.3% of the patients had associated diseases. Extraintestinal manifestations and associated diseases were more common in early onset disease [P=0.017, odds ratio (OR)=4.02; P=0.03, OR=4.1]. Of the patients, 15% had normal laboratory parameters including anemia, high platelet count, hypoalbuminemia, hypoferritinemia, and high sedimentation rate. Area under receiver operation characteristics was used to predict pancolitis in patients with UC. The values of C-reactive protein, sedimentation rate and pediatric ulcerative colitis activity were 0.61 (P=0.06), 0.66 (P=0.01) and 0.76 (P=0.0001), respectively. Four (4.4%) patients with UC underwent colectomy, and finally two (1.5%, 95% confidence interval: 0-3.7%) patients died from primary disease or complications.ConclusionsIBD is an increasing clinical entity in Turkey. Features of IBD are similar to those in other populations, but prospective multicenter studies are needed to analyze the true incidence of IBD in Turkish children.

Severe myopathy caused by the new pandemic influenza A (H1N1) in a child

Myopathy is a rare complication of influenza infections. Here, we report on an eight-year-old girl with severe myopathy due to new pandemic influenza A (H1N1). She presented with severe myopathy following generalized tonic-clonic seizure and recovered completely within a few days.