Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.

Purpose: The gastrointestinal system is the most commonly affected organ, followed by the lungs, in patients with primary immunodeficiency disease (PID). Hence, it is common for children with PIDs to present with gastrointestinal symptoms. We aimed to analyze the clinical and histopathological findings of patients who were initially admitted to pediatric gastroenterology/hepatology clinics and subsequently diagnosed with PIDs to identify the clinical clues for PIDs. Methods: The demographic, laboratory, and histopathological findings, treatment modality, and outcomes of patients initially admitted to the pediatric gastroenterology/hepatology unit and subsequently diagnosed with PIDs were recorded. Results: The study included 24 patients (58.3% male; median age [range]: 29 [0.5-204] months). Common clinical presentations included chronic diarrhea (n=8), colitis (n=6), acute hepatitis (n=4), and acute liver failure (n=2). The association of autoimmune diseases, development of malignant diseases, and severe progression of viral diseases was observed in 20.8%, 8.3%, and 16.6% of the patients, respectively. Antibody deficiency was predominantly diagnosed in 29.2% of patients, combined immunodeficiency in 20.8%, immune dysregulation in 12.5%, defects in intrinsic and innate immunity in 4.2%, autoinflammatory disorders in 8.3%, and congenital defects of phagocytes in 4.2%. Five patients remained unclassified (20.8%). Conclusion: Patients with PIDs may initially experience gastrointestinal or liver problems. It is recommended that the association of autoimmune or malignant diseases or severe progression of viral diseases provide pediatric gastroenterologists some suspicion of PIDs. After screening using basic laboratory tests, genetic analysis is mandatory for a definitive diagnosis.

Incidence and Risk Factors for Antibiotic-associated Diarrhea Among Hospitalized Children.

BACKGROUND: We aimed to evaluate the incidence, clinical findings, and risk factors of antibiotic-associated diarrhea (AAD) in hospitalized children without known comorbid diseases. METHODS: All hospitalized children during the 1-year period that fulfilled the inclusion criteria were included in this study (n = 358). AAD was defined as; ≥2 loose or watery stools per day for a minimum of 24 hours during antibiotic treatment caused by Clostridioides difficile or negative stool tests for identifiable infectious agents. RESULTS: During hospitalization, diarrhea developed in 32 (8.93%) of the 358 patients. C. difficile toxin B was positive for 1 case. No infectious agents were detected in 21 patients. Overall, AAD was observed in 22 patients (6.14%, 95% CI: 4.09-9.13). Male sex ( P = 0.027, OR: 3.36), age between 1 month and <3 years ( P = 0.01, OR: 4.23), ibuprofen use ( P = 0.044, OR: 2.63) and late administration of antibiotics ( P = 0.001, OR: 9.5) were associated with the development of AAD. CONCLUSIONS: The incidence of AAD is low among hospitalized children without comorbid diseases, and most diarrheal episodes are mild and self-limiting. The use of probiotics in this patient group may be limited to certain specific situations.

When Should Endoscopic Interventions Be Performed in Children with Severe Anemia?

OBJECTIVE: Anemia is a common problem in outpatient clinics, and endoscopic interventions are one of the initial steps to rule out the gastrointestinal causes. In this study, we aimed to analyze the diagnostic yield of endoscopic interventions in children with severe anemia. MATERIALS AND METHODS: The demographic features, laboratory findings, and endoscopic and histopathological findings of 65 children with severe anemia (hemoglobin <7 g/dL) (mean age of 12.1 ± 4.4 years, 73.8% female) who underwent endoscopic interventions were recorded from the files. Patients were divided into 2 groups according to the presence of positive endoscopic findings and/or histopathological examination. Factors that may predict the presence of positive endoscopic findings and/or histopathological examination were analyzed. RESULTS: After a colonoscopy and/or upper gastrointestinal endoscopy, the etiology of anemia was identified in 35 patients, and the major diagnosis of Helicobacter pylori gastritis in 16.9% and gastrointestinal ulcer in 10.8% of the patients was made. No gastrointestinal pathology was detected in 30 patients. The diagnostic yield of endoscopic examination in patients with severe anemia was 53.8% (95% CI: 63.3-67.7). Presence of hypoalbuminemia (P = .021), high erythrocyte sedimentation rate (P = .006), and high C-reactive protein (P = .03) was significantly associated with positive findings in endoscopic interventions. CONCLUSION: We recommend performing upper gastrointestinal endoscopy and/or colonoscopy in patients with severe anemia associated with gastrointestinal symptoms and using laboratory findings of hypoalbuminemia, high erythrocyte sedimentation rate, and C-reactive protein in order to rule out gastrointestinal pathologies.

Efficiency of azathioprine monotherapy for maintenance treatment of autoimmune hepatitis in children.

INTRODUCTION: Autoimmune hepatitis (AIH) is a common pediatric liver disease and long-term remission is usually maintained with low dose prednisolone and azathioprine (AZA). The aim of this study is to evaluate the efficiency of AZA monotherapy for maintenance treatment of children with AIH. MATERIALS AND METHODS: This study was a retrospective analysis of the 55 children with AIH. Patients were divided into two groups: combination therapy (CT) and AZA group based on maintenance therapy. Results of these two different maintenance treatments were compared in children with AIH. RESULTS: The mean age of the children was 10.67 ± 4.30 years (61.8% females) with a mean follow-up period of 46.8 ± 33.6 months. For maintenance treatment, 39 (70.9%) patients received AZA and 16 (29.1%) patients received CT. Relapse was observed in nine (19.6%) cases in the follow-up period; two were in the CT group (2/16; 12.5%) and seven (7/39; 17.9%) were in the AZA group (P = 0.620). In AZA group, the duration of remission was 22.2 ± 6.1 months and that was longer than CT group (P = 0.025). CONCLUSION: Our study suggests that AZA monotherapy is an effective and safe therapy for maintaining remission in children with AIH. AZA monotherapy may be used for maintenance treatment of children with AIH, except in cases of overlap syndrome and also to avoid side effects of long-term used steroids and to improve treatment compliance in proper cases.

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.

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.

Neurological Manifestations of Pediatric Acute COVID Infections: A Single Center Experience.

BACKGROUND: Coronavirus disease 2019 (COVID-19) usually leads to a mild infectious disease course in children, while serious complications may occur in conjunction with both acute infection and neurological symptoms, which have been predominantly reported in adults. The neurological complications in these patients vary based on patient age and underlying comorbidities. Data on clinical features, particularly neurological features, and prognostic factors in children and adolescents are limited. This study provides a concise overview of neurological complications in pediatric COVID-19 cases. MATERIALS AND METHODS: The retrospective study reviewed medical records of all patients who were admitted to our hospital and were diagnosed with COVID-19 by real-time reverse-transcription polymerase-chain-reaction (RT-PCR) assay between 11 March 2020 and 30 January 2021. Patients with a positive PCR result were categorized into two groups: outpatient departments patients and inpatient departments (IPD). RESULTS: Of the 2530 children who underwent RT-PCR during the study period, 382 (8.6%) were confirmed as COVID-19 positive, comprising 188 (49.2%) girls and 194 (50.8%) boys with a mean age of 7.14±5.84 (range, 0-17) years. Neurological complications that required hospitalization were present in 34 (8.9%) patients, including seizure (52.9%), headache (38.2%), dizziness (11.1%) and meningoencephalitis (5.8%). CONCLUSION: The results indicated that neurological manifestations are not rare in children suffering from COVID-19. Seizures, headaches, dizziness, anosmia, ageusia and meningoencephalitis are major neurological manifestations during acute COVID-19 disease. Although seizures were the most common cause of hospitalization in IPD patients, the frequency of meningoencephalitis was quite high. Seizures were observed as febrile seizures for children under 6 years of age and afebrile seizures for those over 6 years of age. Febrile seizure accounted for half of all seizure children.

Early onset congenital diarrheas; single center experience.

BACKGROUND: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. METHODS: Demographic, clinical and genetic findings, and outcome of the patients (n = 24) with CDDs were recorded from hospital files. RESULTS: The onset of diarrhea was within the neonatal period in 45.8% of the patients. The most frequent causes of CDDs were defects in digestion, absorption and transport of nutrients and electrolytes (DATN) (n = 11, 45.8%) and defects in intestinal immune-related homeostasis (IIH) (n = 6, 25%). Fat malabsorption (n = 6) was the leading cause of defects in DATN. Extraintestinal manifestations including neurological involvement (25%) and renal involvement (20.8%) were common among the patients. Genetic analyses were performed for 16 patients (targeted gene analysis in 9, congenital diarrhea panel in 3, immune deficiency panel in 1 and whole-exome sequencing in 3 patients). Genetic diagnosis was achieved in 14 of 16 patients (87.5%) with therapeutic consequences in 8 of 16 patients (50%). During the follow-up, 6 patients (25%) died. CONCLUSION: The percentage of undefined etiology decreased, and treatment of the patients improved with the increased number of genetic testing in patients with CDDs.

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.

Acquired noncaustic esophageal strictures in children.

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 diverticulum (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 radiotherapy-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.

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Particular fibrinogen γ chain mutations occurring in the γ-module induce changes that hamper γ-γ dimerization and provoke intracellular aggregation of the mutant fibrinogen, defective export and plasma deficiency. The hepatic storage predisposes to the development of liver disease. This condition has been termed hereditary hypofibrinogenemia with hepatic storage (HHHS). So far, seven of such mutations in the fibrinogen γ chain have been detected. We are reporting on an additional mutation occurring in a 3.5-year-old Turkish child undergoing a needle liver biopsy because of the concomitance of transaminase elevation of unknown origin and low plasma fibrinogen level. The liver biopsy showed an intra-hepatocytic storage of fibrinogen. The molecular analysis of the three fibrinogen genes revealed a mutation (Fibrinogen Trabzon Thr371Ile) at exon 9 of the γ chain in the child and his father, while the mother and the brother were normal. Fibrinogen Trabzon represents a new fibrinogen γ chain mutation fulfilling the criteria for HHHS. Its occurrence in a Turkish child confirms that HHHS can present in early childhood and provides relevant epidemiological information on the worldwide distribution of the fibrinogen γ chain mutations causing this disease. By analyzing fibrinogen crystal structures and calculating the folding free energy change (ΔΔG) to infer how the variants can affect the conformation and function, we propose a mechanism for the intracellular aggregation of Fibrinogen Trabzon and other γ-module mutations causing HHHS.

Wernicke`s encephalopathy manifesting with diplopia after ileojejunostomy: report of a pediatric case with Hirschsprung disease.

BACKGROUND: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. CASE: In this report, we present a patient who developed diplopia during total parenteral nutrition following surgical resection and was diagnosed with WE. The findings of the patient's cranial magnetic resonance imaging (MRI) findings were consistent with those of WE and the ocular findings of the patient resolved completely after thiamine treatment. CONCLUSION: Although WE is rare in children it can be prevented by early diagnosis and treatment and oculomotor findings such as diplopia can be a warning sign.

Liver Involvement in Children with Alpha-1 Antitrypsin Deficiency: A Multicenter Study.

PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD. METHODS: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25). RESULTS: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term. CONCLUSION: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.

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. METHODS: This retrospective study reviewed age, gender, parental consanguinity, family history, presence of encephalopathy, laboratory parameters, and clinical outcomes of the patients that presented to our clinic between January 2009 and January 2019. Patients with MD-associated ALF were compared with patients in whom ALF was associated with other etiologies. RESULTS: The study included 39 patients (53.8% boys; mean age + SD 6.13 ± 1.43 years). The total and direct bilirubin, international normalized ratio, and ammoniac levels were significantly higher in patients with MD than in the others (P < 0.05). Moreover, the incidences of hypoglycemia, death of a sibling and / or a family history of liver disease were also higher in patients with MD than in the others (P < 0.05). On the other hand, alanine aminotransferase (ALT) levels were significantly higher in patients with other etiologies. CONCLUSIONS: Metabolic diseases should be kept in mind in patients with a history of parental consanguinity and a positive family history of liver disease along with less increased alanine aminotransferase than expected, and increased bilirubin, international normalized ratio, and ammoniac levels and hypoglycemia. As the number of these parameters increases, the chance of diagnosis increases.

Risk Factors Influencing Tolerance and Clinical Features of Food Protein-induced Allergic Proctocolitis.

OBJECTIVE: Continued progress in our understanding of the food protein-induced allergic proctocolitis (FPIAP) will provide the development of diagnostic tests and treatments. We aimed to identify precisely the clinical features and natural course of the disease in a large group of patients. Also, we investigated the predicting risk factors for persistent course since influencing parameters has not yet been established. METHODS: Infants who were admitted with rectal bleeding and had a diagnosis of food protein-induced allergic proctocolitis in 5 different allergy or gastroenterology outpatient clinics were enrolled. Clinical features, laboratory tests, and prognosis were evaluated. Risk factors for persistent course were determined by logistic regression analyses. RESULTS: Among the 257 infants, 50.2% (n = 129) were girls and cow's milk (99.2%) was the most common trigger. Twenty-four percent of the patients had multiple food allergies and had more common antibiotic use (41.9% vs 11.8%), atopic dermatitis (21% vs 10.2%), wheezing (11.3% vs 1.5%), colic (33.8% vs 11.2%), and IgE sensitization (50% vs 13.5%) compared to the single-food allergic group (P < 0.001, P = 0.025, P = 0.003, P < 0.001, respectively). In multivariate logistic regression analysis, presence of colic (odds ratio [OR]: 5.128, 95% confidence interval [CI]: 1.926-13.655, P = 0.001), IgE sensitization (OR: 3.964, 95% CI: 1.424-11.034, P = 0.008), and having allergy to multiple foods (OR: 3.679, 95% CI: 1.278-10.593, P = 0.001] were found to be risk factors for continuing disease after 1 year of age. CONCLUSION: Although most children achieve tolerance at 1 year of age, IgE sensitization, allergy to multiple foods, and presence of colic were risk factors for persistent course and late tolerance. In this context, these children may require more close and extended follow-up.

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 heterozygote MEFV mutations 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.

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

INTRODUCTION: Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect. CASE: A 16-year-old female patient admitted with painless rectal bleeding, chronic abdominal pain, and anorexia for 1 year. Her physical examination was notable for multiple cafe au lait spots. The colonoscopic and histopathologic examination revealed multiple adenomatous polyps that one of them contains low-high grade dysplasia and in situ carsinoma. Genetic analysis revealed a homozygous mutation in the PMS2 gene [c.1164delT (p.H388Qfs*10) (p.His388GInfsTer10)] and she was diagnosed with constitutional MMR gene defect syndrome. Polypectomy was performed 4 times in 2 years period. Then, the patient's last colonoscopic examination revealed a large broad polyp in the rectum and multiple polyps in the other colon segments, and she underwent colectomy because of high risk of colorectal cancer. CONCLUSIONS: Adenomatous polyps are very important in childhood because of rarity. In particular, the presence of cafe au lait spots and a history of malignancy detected in relatives at an early age must be considered for CMMRD.

A rare clinical association: Barth syndrome and cystic fibrosis.

Sag E, Kamasak T, Kaya G, Çakir M. A rare clinical association: Barth syndrome and cystic fibrosis. Turk J Pediatr 2019; 61: 134-138. 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.

Neurocognitive Functions in Infants with Malnutrition; Relation with Long-chain Polyunsaturated Fatty Acids, Micronutrients Levels and Magnetic Resonance Spectroscopy.

PURPOSE: Malnutrition may influence neurocognitive development in children by directly affecting the brain structural development, or indirectly by affecting the children's cognition experience. Malnutrition alters the cell numbers, cell migration, synaptogenesis, and neurotransmission due to inadequate availability of necessary micronutrients to support cell growth. We aimed to analyze neurocognitive development in infants with malnutrition and its association with long chain polyunsaturated fatty acids (LC-PUFA), micronutrients levels and magnetic resonance spectroscopy (MRS) findings. METHODS: The study included two groups; group 1, infants with malnutrition (n=24), group 2; healthy infants (n=21). Peripheral blood was obtained from the participants for studying micronutrients and LC-PUFA levels. The neurocognitive development was analyzed by the use of an Ankara Developmental Screening Inventory test. MRS were performed on all infants. RESULTS: All parameters of neurocognitive development and serum calcium (9.6±0.9 mg/dL vs. 10.4±0.3 mg/dL, p<0.05) and magnesium (2.02±0.27 mg/dL vs. 2.2±0.14 mg/dL, p<0.05) levels were noted as being low in infants with marked malnutrition. No difference was found in LC-PUFA levels between healthy and malnourished infants. Thalamic choline/creatine levels were significantly high in infants with malnutrition (1.33±0.22 vs. 1.18±0.22, p<0.05). Total neurocognitive development in infants was positively correlated with serum calcium levels (p<0.05, r=0.381). CONCLUSION: Calcium supplementation may improve neurocognitive development in malnourished infants.

Clinical significance of low transaminase levels in children with inflammatory bowel disease.

BACKGROUND: Low alanine aminotransaminase (LALT) levels may be seen in patients with inflammatory bowel disease (IBD), but there has been no study about the frequency and its clinical significance. We aimed to analyze the frequency of LALT, and its clinical significance in children with IBD. METHODS: The study included the 89 patients with IBD without hepatobiliary involvement. LALT was defined as ALT levels < 5 U/L. Demographic and clinical findings and outcome of the patients with and without LALT were compared. RESULTS: LALT was found 47.1% of the patients. At initial examination, it was more common in female patients (92.3 vs. 41.3%, P < 0.001) and patients with CD (57.7 vs. 30.2%, P = 0.01). 75% of the patients with penetrating Crohn's disease (CD) had LALT (P = 0.002). Hemoglobin (10.4 ± 2.1 vs. 11.7 ± 1.9 g/dL, P = 0.01), folic acid (5.2 ± 3.3 vs. 8.6 ± 5.9 ng/mL, P = 0.02) and serum albumin levels (3.6 ± 0.8 vs. 4.7 ± 5 g/dL, P = 0.002) were significantly low in patients with LALT. LALT was associted with the disease relapse within 2 weeks in 12 of the 16 patients with LALT whereas it was seen in 16 of the 73 patients without LALT during the follow-up (75 vs. 21.9%, P < 0.001). Additionally, steroid dependency was more common in patients with LALT during the follow-up (62.5 vs. 12.3%, P < 0.001). CONCLUSIONS: LALT is common in children with IBD especially in CD and associated with low hemoglobin, albumin and folic acid levels. It may be a marker of relapse and steroid dependency.