Assesment of functional gastrointestinal diseases in obese children.

Functional gastrointestinal disorders (FGID) are disorders of gut-brain interactions characterized by chronic recurrent gastrointestinal symptoms and are reported to be more common in obese individuals. The aim of the study was to evaluate FGID in obese children. A total of 405 children (6-18 years) were enrolled in this cross sectional study. The children were divided into two groups according to body mass index (BMI) as < 85th percentile and > 95th percentile. Diagnosis of FGID was based on ROME VI criteria. Demographic and clinical characteristics of the patients were evaluated. FGID and subgroups were determined. The mean age of the children was 12.73 ± 3.17 years; 52% (n = 211) of them was female and 47.9% (n = 194) was male. A total of 50.6% patients had BMI > 95th percentile, and 55.1% of those patients had FGID. The subgroups of FGID, functional abdominal pain disorders and functional defecation disorders were significantly more common in obese children than non-obese group (P < 0.01). Additionally, constipation-predominant irritable bowel syndrome (IBS), diarrhea-predominant IBS, functional diarrhea, and abdominal distention were significantly more common in obese children than non-obese children (P < 0.01). CONCLUSION:  FGID in obese children was found to be increased significantly. Assessment of functional gastrointestinal symptoms in obese children will prevent unnecessary examinations. WHAT IS KNOWN: • Functional gastrointestinal disorders are reported to be more common in obese individuals. WHAT IS NEW: • Functional abdominal pain disorders and functional defecation disorders were significantly more common in obese children than non-obese group. • Constipation-predominant irritable bowel syndrome (IBS), diarrhea-predominant IBS, functional diarrhea, and abdominal distention were significantly more common in obese children than non-obese children.

Relationship between disease activity index and sleep disorders in children with inflammatory bowel diseases.

The aim of the study was to assess the prevalence of sleep disturbance in pediatric IBD patients and evaluate the relationship between clinical features of IBD, disease activity, inflammatory markers and quality of sleep. A total of 99 patients who were followed-up with the diagnosis of IBD (44 Crohn's disease (CD), 55 Ulcerative colitis (UC)) between 2015-2020 and 80 healthy controls were enrolled in the study. The clinical and demographic characteristics, laboratory parameters and disease activities were obtained from medical reports retrospectively. Pittsburgh sleep quality index (PSQI) was administered to all participants. PSQI score was significantly higher in patient group than the control group (P < 0.001). The sleep time of patient group, especially patients with UC was later than the control group (P = 0.008). Sleep duration was longer in control group than the patient group (P < 0.001). A positive strong correlation was obtained in disease activity index (r = 0.886; P < 0.001) and abdominal pain (r = 0.781; P < 0.001) with PSQI scores of CD patients. Disease activity index, rectal bleeding, diarrhea and number of stool had statistically significant positive strong correlation with PSQI scores of UC patients (P < 0.001). Pediatric Crohn's disease activity index and Pediatric ulcerative colitis activity index were the only independent risk factors affecting sleep disturbances (80% sensitivity and 91.67% specificity, 93.1% sensitivity and %96.15 specificity, respectively).   Conclusion: Increased disease activity has adverse effects on sleep quality. PSQI and PCDAI were strong tests for predicting sleep disorders in pediatric patients with IBD. What is Known: • Sleep disturbances are common complaint in inflammatory bowel disease (IBD), even in clinical remission. • Pittsburgh sleep quality index (PSQI) was used to evaluate the subjective sleep quality of patients. What is New: • PSQI and Pediatric Crohn Disease Activity index (PCDAI) were strong tests for predicting sleep disorders in pediatric patients with IBD. • PSQI and PCDAI scores correlated significantly with the severity of the sleep disturbances.

A simple machine learning approach for preoperative diagnosis of esophageal burns after caustic substance ingestion in children.

PURPOSE: The unresolved debate about the management of corrosive ingestion is a major problem both for the patients and healthcare systems. This study aims to demonstrate the presence and the severity of the esophageal burn after caustic substance ingestion can be predicted with complete blood count parameters. METHODS: A multicenter, national, retrospective cohort study was performed on all caustic substance cases between 2000 and 2018. The classification learner toolbox of MATLAB version R2021a was used for the classification problem. Machine learning algorithms were used to forecast caustic burn. RESULTS: Among 1839 patients, 142 patients (7.7%) had burns. The type of the caustic and the PDW (platelet distribution width) values were the most important predictors. In the acid group, the AUC (area under curve) value was 84% while it was 70% in the alkaline group. The external validation had 85.17% accuracy in the acidic group and 91.66% in the alkaline group. CONCLUSIONS: Artificial intelligence systems have a high potential to be used in the prediction of caustic burns in pediatric age groups.

Coats plus syndrome: a rare cause of severe gastrointestinal tract bleeding in children - a case report.

BACKGROUND: Coats plus syndrome, cerebroretinal microangiopathy with calcifications and cysts, is a rare disease with autosomal recessive pattern occurring due to a mutation in CTC1, encoding conserved telomere maintenance component 1, gene. Besides retinal involvement, abnormalities in brain and osteopenia, serious life-threatening bleeding in gastrointestinal tract and portal hypertension can be observed. CASE PRESENTATION: A 6-year-old girl with Coats plus syndrome presented to the pediatric emergency department with vomiting blood and blood in stool. An upper and lower gastrointestinal endoscopy revealed esophageal varices and vascular telangiectasia in the pyloric antrum, duodenum, and colon. She received palliative care and the bleeding was stopped after receiving intravenous octreotide. She then was followed in the pediatric gastroenterology, neurology, and ophthalmology clinics. She was later hospitalized and admitted to the intensive care unit as she continued to have intermittent gastrointestinal system bleeding. She eventually died due to severe gastrointestinal system bleeding. CONCLUSIONS: Coats plus syndrome can lead to life-threatening gastrointestinal bleeding and portal hypertension. As Coats plus syndrome is quite rare, there is little published data on this syndrome. This report presents a case of Coats plus syndrome as a rare cause of gastrointestinal bleeding and portal hypertension.

The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals.

This study aimed to determine the prevalence of infantile functional gastrointestinal disorders (FGIDs) based on Rome IV diagnostic criteria, and to determine the associated patient demographic and nutritional characteristics. A total of 2383 infants aged 1-12 months which were evaluated by 28 general pediatricians and pediatric gastroenterologists on the same day at nine tertiary care hospitals around Istanbul, Turkey, between November 2017 and March 2018, were included in the study. Patients included consulted the pediatric outpatient clinics because of any complaints, but not for vaccines and/or routine well child follow-ups as this is not part of the activities in the tertiary care hospitals. The patients were diagnosed with FGIDs based on Rome IV diagnostic criteria. The patients were divided into a FGID group and non-FGID group, and anthropometric measurements, physical examination findings, nutritional status, risk factors, and symptoms related to FGIDs were evaluated using questionnaires. Among the 2383 infants included, 837 (35.1%) had ≥1 FGIDs, of which 260 (31%) had already presented to hospital with symptoms of FGIDs and 577 (69%) presented to hospital with other symptoms, but were diagnosed with FGIDs by a pediatrician. Infant colic (19.2%), infant regurgitation (13.4%), and infant dyschezia (9.8%) were the most common FGIDs. One FGID was present in 76%, and ≥2 FGIDs were diagnosed in 24%. The frequency of early supplementary feeding was higher in the infants in the FGID group aged ≤6 months than in the non-FGID group (P = 0.039).Conclusion: FGIDs occur quite common in infants. Since early diversification was associated with the presence of FGIDs, nutritional guidance and intervention should be part of the first-line treatment. Only 31% of the infants diagnosed with a FGID were presented because of symptoms indicating a FGID. What is Known: • The functional gastrointestinal disorders (FGIDs) are a very common disorder and affect almost half of all infants. • In infants, the frequency of FGIDs increases with mistakes made in feeding. When FGIDs are diagnosed in infants, nutritional support should be the first-line treatment. What is New: • This study shows that only a third of children presented to hospital because of the symptoms of FGIDs, but pediatricians were able to make the diagnosis in suspected infants after appropriate evaluation. • The early starting of complementary feeding (<6 months) is a risk factor for the development of FGIDs.

Association of celiac disease with eosophageal eosinophilia and eosinophilic eosophagitis.

BACKGROUND: Aim of the study was to evaluate the association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia in children. METHODS: A total of 278 patients with celiac disease (mean age: 7.12 ± 4.64 years, M/F: 0.77) were involved in the study. The patients were evaluated retrospectively in terms of clinical, endoscopic and histopathological findings. The association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia was determined. RESULTS: According to Marsh classification system 6 (2.1%) of the patients were graded type 3A, 10 (3.5%) were type 3B, 262 (94.4%) were type 3C. The histopathological examination of oesophageal biopsy specimens of the patients revealed <15 eosinophils per high power field in only 4 (1.4%) patients. Two of these patients were positive for HLA DQ8, one was DQ2, and the other one was both DQ8 and DQ2. Tissue transglutaminase IgA level was above 300 U/mL in these patients. None of them had elevated serum total IgE levels, peripheral eosinophilia and history of atopic diseases. The gastrointestinal symptoms resolved and tissue transglutaminase IgA level of the patients were declined after 3 months of gluten-free diet. CONCLUSION: Although an association between celiac disease and eosinophilic oesophagitis/oesophageal eosinophilia have been postulated in recent years, no exact relationship was established in this study. This is the first study reporting the performance of follow-up GI endoscopy with biopsies revealing the resolution of oesophageal eosinophilia.

Blind liver biopsy: a 17-year experience.

OBJECTIVES: Liver biopsy is the gold standard for assessing liver inflammation, necrosis and fibrosis. The aim of the study is to evaluate clinical indications and histopathological results of percutaneus liver biopsy. MATERIALS AND METHODS: A total of 516 children who underwent blind liver biopsy were evaluated retrospectively. RESULTS: Blind liver biopsy was performed for chronic active hepatitis B in 50% of the cases (n=260), neonatal cholestasis in 14% (n=68), autoimmune hepatitis in 7.7% (n=40), Wilson disease in 7.3% (n=38), isolated elevation of the liver enzymes in 5% (n=26), chronic active hepatitis C in 4.2% (n=22), metabolic disease in 3.4% (n=17), malignancies in 2.2% (n=11) and the others in 3.4% (n=17). Major complications were observed in 0.19% of the cases (n=1) and minor complications such as pain at the biopsy site in 13.5% of the cases (n=70), hypotension and tachycardia in 1.9% (n=10). CONCLUSIONS: Blind liver biopsy is a safe method in diagnosing liver diseases in childhood.

A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome.

Johanson-Blizzard Syndrome (JBS) was first described by Johanson and Blizzard. It exhibits autosomal recessive inheritance and is characterized by mutation in the UBR1 gene on the long arm of Chromosome 15. The phenotypic features as well as diarrhoea that occurs due to the exocrine pancreatic insufficiency constitute the main clinical symptoms. This article discusses Johanson-Blizzard Syndrome due to the case followed-up by us with the symptoms of deafness and diarrhoea as well as typical facial appearance.

Tuberculosis and tuberculin skin test reactivity in pediatric patients with celiac disease.

BACKGROUND: The aim of the study was to determine tuberculin skin test reactivity and associated factors in pediatric patients with celiac disease (CD). METHODS: Tuberculin skin test (TST) was performed on 28 patients with CD aged from 1 year to 15 years (mean, 6.64±4.8) and 28 healthy age and sex-matched children. The association between TST reactivity and parameters such as age, gender, malnutrition, clinical presentation, compliance to gluten free diet and response to hepatitis A and B vaccinations were determined. RESULTS: No difference was observed in TST reactivity (induration size) between the patients with CD and healthy controls. Thirty-two percent (9/28) of the patients were anergic, and one-third of these nine patients had malnutrition. No significant difference was observed between TST-positive and TST-negative patients in terms of age, gender, malnutrition, compliance to gluten-free diet and response to hepatitis A and B vaccinations (P>0.05). One of 11 patients with positive TST had tuberculosis disease and 10 had latent tuberculosis infection (LTBI), whereas none of the controls had LTBI or tuberculosis disease (P=0.0007). CONCLUSIONS: Although based on a small number of cases, it seems that children with CD are more susceptible to tuberculosis than healthy children. TST can be used to identify BCG-vaccinated children with CD who are probably infected with M. tuberculosis, similarly to healthy children.

The investigation of Helicobacter pylori in the dental biofilm and saliva samples of children with dyspeptic complaints.

BACKGROUND: The oral cavity can be an extra-gastric reservoir for Helicobacter pylori (H.pylori). This can play a role in the pathogenesis of halitosis, glossitis, recurrent aphthous stomatitis, and dental caries. The present study was conducted to detect the presence of H.pylori within the dental biofilm and in saliva samples collected from children suffering from dyspepsia and children without any gastrointestinal complaints. Associations with gastric infection, halitosis, and some oral parameters were also evaluated. METHODS: Seventy children (aged between 5-16) with dyspepsia were selected for the study group and control group composed of 30 healthy children without dyspepsia were also included in the study. After detailed oral and clinical examinations for oral parameters, saliva, and supragingival dental biofilm samples were collected for 16S rRNA and 23S rRNA genes detection by real-time polymerase chain reaction (RT-PCR). The presence of gastric H.pylori was evaluated in endoscopic biopsy specimens histopathologically. Halitosis was evaluated by benzoyl-DL-arginine-naphthylamid (BANA) test. Salivary S.mutans and Lactobacilli sp. counts were also carried out by commercial kits. RESULTS: H.pylori was histopathologically detected amongst 83% of the children with the dyspeptic condition. The detection rate of this bacteria in dental biofilm and saliva samples and halitosis were found relatively higher in the dyspeptic children rather than the control group (p < 0.01). Halitosis was not significantly different between dyspeptic children and those detected with H.pylori (p > 0.05). In the gastric H.pylori positive group with dyspepsia, DMFT/S and dmft/s numbers and plaque indices were found higher than the control group (p < 0.01). Only plaque indices of gastric H.pylori negative group with dyspepsia were found higher than the control group (p < 0.01). S.mutans and Lactobacilli sp. counts were not significantly different between gastric H.pylori positive and negative groups (p > 0.05). Comparing to those with negative for both genes, in children whose dental biofilm and saliva samples were positive for both 16S rRNA and 23S rRNA genes, significantly higher results for halitosis, and DMFS numbers and significantly lower results for dmfs numbers and pH values were found (p < 0.01). CONCLUSIONS: Helicobacter pylori can occur in the oral cavity aside and independently from the stomach. However, the high number of bacteria in the oral cavities of children with gastric H.pylori, an association between the presence of H.pylori and halitosis, DMFS, and pH were found.

Sensorineural hearing loss in pediatric patients with celiac disease.

Sensorineural hearing loss (SNHL) as an extraintestinal manifestation of celiac disease (CD) has been reported in several studies. The aim of this study was to determine presence of subclinical sensorineural hearing loss associated with CD in pediatric patients. Otoscopy, tympanometry and pure tone audiometry were performed in 44 patients with CD and 20 healthy age and sex-matched controls. Pure tone audiometry did not show significant sensorineural hearing loss over all frequencies in patients with CD compared with controls (P > 0.05). SNHL was detected in only three (6.8 %) patients with CD. In conclusion, subclinical sensorineural hearing loss was demonstrated in adult patients with CD; therefore, we recommend to perform audiometric examinations in pediatric patients for recognizing hearing loss early during the course of the disease.

The association between Helicobacter pylori gastritis and lymphoid aggregates, lymphoid follicles and intestinal metaplasia in gastric mucosa of children.

AIMS: The aim of the study was to determine the topographic prevalence of lymphoid follicles, lymphoid aggregates, gastric glandular atrophy and intestinal metaplasia among children with chronic abdominal pain. The association between these lesions and age, type of gastritis and Helicobacter pylori density was also assessed. METHODS: A total of 358 patients (mean age: 10, 18 ± 3, 26 years; male : female ratio: 0.92) with chronic abdominal pain who had upper gastrointestinal endoscopy were included in the study. The endoscopic and histopathological findings were documented. The prevalence of lymphoid follicles, lymphoid aggregates, atrophy and intestinal metaplasia according to the type of gastritis and their relation with H. pylori density were determined. RESULTS: H. pylori was detected in 214 (59.8%) patients. H. pylori- positive patients were found to be significantly older than H. pylori-negative patients (P < 0.01). The endoscopy revealed that the most common finding observed was antral nodularity in H. pylori-positive patients and normal mucosal appearance in H. pylori-negative patients. Panmucosal gastritis both in the corpus and antrum and the prevalence of lymphoid follicles and lymphoid aggregates were more frequent in the H. pylori-positive group (P < 0.01). None of the patients had atrophy, whereas 11 patients had intestinal metaplasia. Although positive correlation was obtained between lymphoid lesions and H. pylori density, no significant relation was established between intestinal metaplasia, lymphoid lesions and H. pylori density. CONCLUSION: Lymphoid follicles and lymphoid aggregates in gastric mucosa involving both antrum and corpus significantly correlated with H. pylori infection, H. pylori density and type of gastritis in children.

Response to hepatitis A and B vaccination in pediatric patients with celiac disease.

OBJECTIVES: The aim of the study was to evaluate the response to hepatitis A and B vaccinations in pediatric patients with celiac disease (CD). METHODS: Thirty patients with CD ages 1 to 15 years were compared with 50 healthy age-, sex-, and body mass index-matched controls. Screening for hepatitis A and B serology was carried out before vaccination. Susceptible cases received 20 µg of recombinant DNA vaccine for hepatitis B (0,1, and 6 months) and 720 milliELISA units of inactivated hepatitis A virus (HAV) vaccine (0 and 6 months). Postvaccination serologic evaluation was performed 1 month after the last dose of primary vaccination, 1 month after the booster dose, and once every year during follow-up. RESULTS: Sixteen patients and 35 controls received hepatitis A vaccine; protective anti-HAV antibodies were developed in 12 (75%) of the patients and all of the controls (75% vs 100%, respectively; 95% confidence interval [CI] 0.47-0.92, P=0.007). Thirty patients and 50 controls received hepatitis B vaccine, and 70% of the patients vs 90% of the controls achieved seroprotection (anti-HBs titers ≥10 mIU/mL) 1 month after primary vaccination (95% CI 0.74-0.90, P=0.03). Four patients were unresponsive to both of the vaccines. The overall seroprotection rates were 96% in controls and 80% in patients after the whole hepatitis B vaccination series (95% CI 0.04-0.18, P=0.04). No significant reduction was observed in antibody response among patients and controls during follow-up period. CONCLUSIONS: The rate of seroconversion to the hepatitis B virus- and HAV vaccine is lower in patients with CD than in healthy controls.

Immunogenecity of hepatitis A and B vaccination in pediatric patients with inflammatory bowel disease.

OBJECTIVES: Aim of the study was to evaluate the response to hepatitis A and B vaccination in pediatric patients with inflammatory bowel disease (IBD). METHODS: A total of 47 patients with IBD (25 ulcerative colitis, 14 Crohn's disease, and 8 indeterminate colitis) ages 3 to 17 years were compared with 50 healthy age- and sex-matched controls. Screening for hepatitis A and B serology was carried out before vaccination. Susceptible cases received 20 mg of recombinant DNA vaccine for hepatitis B (0, 1, and 6 months)and 720 milliELISA units of inactivated hepatitis A virus vaccine (HAV) (0 and 6 months). Postvaccination serologic evaluation was performed 1 month after the last dose of primary vaccination, 1 month after the booster dose, and once every year during follow-up. RESULTS: A total of 23 patients and 35 controls received HAV and protective anti-HAV antibodies were developed in all of the patients and controls (P =1.00). Forty-seven patients and 50 controls received hepatitis B vaccine and 70.2% of the patients versus 90% of the controls achieved seroprotection(anti-HBs titers 10 mIU/mL) 1 month after primary vaccination (95% confidence interval 0.71­0.87, P = 0.02). The overall seroprotection rates were 96% in controls and 85.1% in patients after the whole hepatitis B vaccination series (95% confidence interval 0.83­0.95, P = 0.08). No significant reduction was observed in antibody response among patients and controls during the follow-up period. CONCLUSIONS: The rate of seroconversion to the hepatitis B vaccine was lower in pediatric patients with IBD than in healthy controls and hepatitis A vaccine was highly immunogenic among patients with IBD.

Growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula in infants with cow's milk protein allergy.

Objective: To evaluate growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula (eHCF) in infants with cow's milk protein allergy (CMPA). Methods: A total of 226 infants (mean ± SD age: 106.5 ± 39.5 days, 52.7% were girls) with CMPA who received eHCF comprising at least half of the daily dietary intake were included. Data on anthropometrics [weight for age (WFA), length for age (LFA) and weight for length (WFL) z-scores] were recorded at baseline (visit 1), while data on infant feeding and stool records, anthropometrics and Infant Feeding and Stool Patterns and Formula Satisfaction Questionnaires were recorded at visit 2 (on Days 15 ± 5) and visit 3 (on Days 30 ± 5). Results: From baseline to visit 2 and visit 3, WFA z-scores (from -0.60 ± 1.13 to -0.54 ± 1.09 at visit 2, and to -0.44 ± 1.05 at visit 3, p < 0.001) and WFL z-scores (from -0.80 ± 1.30 to -0.71 ± 1.22 at visit 2, and to -0.64 ± 1.13 at visit 3, p = 0.002) were significantly increased. At least half of infants never experienced irritability or feeding refusal (55.7%) and spit-up after feeding (50.2%). The majority of mothers were satisfied with the study formula (93.2%), and wished to continue using it (92.2%). Conclusions: In conclusion, eHCF was well-accepted and tolerated by an intended use population of infants ≤ 6 months of age with CMPA and enabled adequate volume consumption and improved growth indices within 30 days of utilization alongside a favorable gastrointestinal tolerance and a high level of parental satisfaction.

Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region.

BACKGROUND/OBJECTIVES: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis. SUBJECTS/METHODS: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria. Univariate and multivariate regression analysis was used to identify risk factors for malnutrition. RESULTS: In total, 824 IBD patients (498 Ulcerative colitis (UC); 289 Crohn's Disease (CD); 37 Indeterminate Colitis (IC); 412 male; the median age 12.5 years) were eligible. The prevalence of eutrophy, wasting/thinness, stunting, overweight, tall stature, concurrent wasting/thinness and stunting, tall stature with overweight, tall stature with wasting/thinness, and short stature with overweight were 67.4%, 14.9%, 6.6%, 3.1%, 3.2%, 3.3%, 1.1%, 0.4%, and 0.1%, respectively. The prevalence of malnutrition was 32.7%, indicating a higher prevalence in CD (p < 0.001). Incidence of overweight was less common in the CD than UC and IC (p < 0.001). Multivariate analysis revealed that age of onset (>10 years), prepubertal stage, severe disease activity, perianal involvement, and high C reactive protein level were independently associated with malnutrition in pediatric IBD. CONCLUSION: We showed the frequency of nutritional impairment in PIBD. The percentage of overweight subjects was lower than the other studies. The age of onset, disease activity, CRP level, perianal involvement, and pubertal stage were associated with a higher risk for developing malnutrition. Our results also confirmed that CD patients are particularly vulnerable to nutritional impairment. CLINICAL TRIAL NUMBER: ClinicalTrials.gov Identifier: NCT04457518.

Acute liver failure, autoimmune hepatitis, and leptospirosis: a case report.

The etiology of acute liver failure varies widely in children, but the most common causes are viral hepatitis, drugs, and toxins. We report herein a case of autoimmune hepatitis and acute liver failure caused by leptospirosis, which is involved rarely in etiology.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.