Gokhan Tumgor

Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins. We describe an 11month-old child with failure to thrive, intestinal lipid malabsorption, hepatic steatosis and severe hypobetalipoproteinemia, suggesting the diagnosis of homozygous FHBL, abetalipoproteinemia (ABL) or chylomicron retention disease (CMRD). The analysis of candidate genes showed that patient was homozygous for a variant (c.1594 C>T) in the APOB gene causing arginine to tryptophan conversion at position 505 of mature apoB (Arg505Trp). No mutations were found in a panel of other potential candidate genes for hypobetalipoproteinemia. In vitro studies showed a reduced secretion of mutant apoB-48 with respect to the wild-type apoB-48 in transfected McA-RH7777 cells. The Arg505Trp substitution is located in the βα1 domain of apoB involved in the lipidation of apoB mediated by microsomal triglyceride transfer protein (MTP), the first step in VLDL and chylomicron formation. The patients condition improved in response to a low fat diet supplemented with fat-soluble vitamins. Homozygosity for a rare missense mutation in the βα1 domain of apoB may be the cause of both severe hypobetalipoproteinemia and intestinal lipid malabsorption.

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.

Ecthyma gangrenosum in a previously healthy pediatric patient and associated facial paralysis and persistent hyperplastic primary vitreous.

Summary Background: Ecthyma gangrenosum is an infective lesion of the skin and mucosal membranes. It is most commonly caused by Pseudomonas aeruginosa, and the most important risk factors are malignancy and neutropenia. However, it has rarely been reported in children who were previously healthy. Persistent hyperplastic primary vitreous has been described as the persistence of the fetal hyaloid vascular system. Acute otitis media with facial paralysis is an infrequent association. Case Report: We report the case of a 5-month-old boy hospitalized because of fever, otorrhea and necrosis on his body. He had peripheral facial paralysis on the same side as otorrhea. Leukocoria was determined in the right eye. He had many gangrenous ulcers on the extremities and body. Conclusions: We present a previously healthy pediatric patient diagnosed with persistent hyperplastic primary vitreous, ecthyma gangrenosum (by the septicemia of P. aeruginosa), and peripheric facial paralysis (a complication of acute otitis media), admitted to hospital.

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I.

BACKGROUND Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. CASE REPORT Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. CONCLUSION We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.

Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD

Summary Background: Thanatophoric dysplasia (TD) is the most lethal and most severe type of dysplasia. It has distinct features, the most important of which is short tubular bones and short ribs with platyspondyly, allowing a precise radiologic and prenatal ultrasonographic diagnosis. It has been reported to be caused by mutations in the FGFR3 gene, but exactly how cytogenetic abnormalities might lead to TD is unclear. Case Report: We report a case of TD with different prenatal sonographic features compatible with the classification of type I. In the result of cytogenetic examination, we found de novo CAs in 28% of cells analyzed from the affected infant; 75% of the abnormalities were numerical, and of those, 25% were structural aberrations; 21% of cells revealed predominantly numerical aberrations. Monosomy 18, 21 and 22 was observed in 4% of cells, monosomy 20 in 2%, and monosomy 7, 8, 14, 17 and 19 in 1%. Structural changes were observed in 7% of cells. Conclusions: It appears that these chromosomes may be preferentially involved in and important for TD development.

Etiology and Outcome of Cholelithiasis in Turkish Children

ObjectiveThe aim of this study was to examine the etiology of gallstones in children and responses to ursodeoxycholic acid (UDCA) treatment.Methods74 children with cholelithiasis were recruited, and underwent ultrasonography to detect gallstones. All relevant clinical information was recorded in a structured proforma.ResultsThe commonest risk factor was a family history of gallstones. Most children responded to UDCA treatment in the first six months; children with hemolytic diseases showed no response to UDCA.ConclusionUDCA treatment may be useful before surgery in asymptomatic patients of cholelithiasis without hemolytic diseases.

Frequency of Celiac Disease in Children with Peptic Ulcers

AbstractAim The aim of the present study is to investigate the frequency of celiac disease in children with peptic ulcers and to compare it with that of non-celiac peptic ulcers in terms of clinical and laboratory values.MethodsUpper gastrointestinal endoscopy was performed in 1769 patients at the Department of Pediatric Gastroenterology, The Faculty of Medicine, Cukurova University, Turkey, between January 2012 and January 2017. These cases consisted of subjects presenting with various GIS symptoms and indicated for endoscopy (with chronic diarrhea, delayed growth and development, abdominal pains, GIS bleeding, etc.). The levels of immunoglobulin A (IgA) serum anti-tissue transglutaminase antibodies, IgA anti-endomysial antibodies (EMA), and IgA serum were estimated in the patients with peptic ulcers.ResultsCeliac disease was diagnosed with serology, endoscopy, and histopathology in 250 (14%) of all cases undergoing endoscopy. Peptic ulcers were diagnosed in 74 patients (4.2%) of all cases undergoing endoscopy. tTGA and EMA (+) levels were determined in 22 (29%) of the 74 patients with peptic ulcers, and then the presence of peptic ulcers was investigated in the upper gastrointestinal system using gastrointestinal endoscopy, followed by histopathological confirmation of celiac disease. HP infection was present in 14 (63%) of the patients with celiac disease and in 23 (44%) of non-celiac peptic ulcers; the difference was not statistically significant (p = 0.12). In the total ulcer group, 10.8% (8/74) of patients with celiac peptic ulcers were negative for HP infection, whereas 21% (8/37) of HP-negative patients with ulcers had celiac disease.ConclusionThere exists a high risk of celiac disease in children with peptic ulcers. We thus recommend celiac disease to be investigated, particularly in HP-negative patients with peptic ulcers but with no history of NSAID use.