Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience.

AIM: Primary immunodeficiencies (PIDs) are a heterogeneous disorder group characterized by an impaired immune system, leading to an increased susceptibility to infections and a wide range of clinical manifestations, including gastrointestinal (GI) complications. This study aimed to assess the GI manifestations of PID patients and highlight the significance of atypical gastrointestinal symptoms in the early diagnosis of these patients. METHODS: A retrospective analysis was conducted on pediatric patients diagnosed with PIDs at Selcuk University Medical Faculty from 2011 to 2021. The study focused on demographic data, clinical presentation, genetic mutations, and GI manifestations, including endoscopic evaluation. Patients were categorized according to the International Union of Immunological Societies (IUIS) PID classifications. Statistical analyses were performed to identify significant associations between PID types and GI manifestations. RESULTS: The cohort comprised 101 patients, with 46% presenting with GI symptoms, including malnutrition and chronic diarrhea, as the most common findings. Primary antibody deficiency (PAD) emerged as the most prevalent PID with GI involvement, followed by combined immunodeficiencies (CID) with associated or syndromic features. Endoscopic evaluations revealed inflammatory bowel disease (IBD)-like colitis in a significant subgroup of patients. The analysis showed that some GI symptoms were more common in specific PID categories, highlighting the importance of early gastroenterological assessment in PID patients. CONCLUSION: Recognition of common GI symptoms in pediatric patients with PIDs may facilitate early diagnosis and prompt multidisciplinary management, potentially improving patient outcomes. The study highlights the necessity of considering PIDs in diagnosing persistent or severe GI symptoms in children.

Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism.

OBJECTIVES: Ligneous conjunctivitis (LC) is a chronic conjunctivitis characterized by recurrent, firm, fibrin-rich, woody pseudomembranes on the palpebral conjunctiva. It is an ultrarare autosomal recessive disease associated with congenital plasminogen (PLG) deficiency due to mutations in the PLG gene (6q26). Immunoglobulin G4-related disease (IgG4-RD) is an idiopathic, systemic fibroinflammatory disease characterized by elevated serum IgG4 concentration and tissue infiltration of IgG4-positive plasma cells leading to organ enlargement, fibrosis and damage. CASE REPORT: A 7-year-old girl with LC was hospitalized for recurrent pancreatitis and diagnosed as IgG4-RD. PLG activity level was 15% (normal range 55-145%). Co-segregation analysis indicated that the patient was homozygous for the c. NG_016200.1(NM_000301.5):c.1465 T>C mutation in PLG gene. c. NG_016200.1(NM_000301.5):c.1465 T>C PLG variant was found to be heterozygous by NGS analysis in both parents. She also had plasminogen activator inhibitor - 1 (PAI-1) NG_013213.1(NM_000602.5):c.-816A>G (4G/4G) homozygous polymorphism and a heterozygote NG_001333.2 (NM_002769.5):c.292_293insC mutation in the serine protease 1 (PRSS-1) gene. However, heterozygous PRSS-1NG_001333.2 (NM_002769.5):c.292_293insC variant was found in the mother of the patient. All detected variants are currently considered as a variant of uncertain (or unknown) significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) classification. Oral steroid, oral azathioprine, topical fresh frozen plasma, topical heparin, topical steroid and topical cyclosporine were given. After 3 years of follow-up, IgG4-RD is under partial remission and no pseudomembranes. CONCLUSION: She is the second case had both LC and IgG4-RD. We identified a NG_016200.1(NM_000301.5):c.1465 T>C novel homozygous mutation in PLG gene and a PAI-1 NG_016200.1(NM_000301.5):c.1465 T>C (4G/4G) homozygous polymorphism, which has been reported as a risk factor for thrombotic events.

The relationship between helicobacter pylori infection and nodular antral gastritis in pediatric patients.

BACKGROUND: Helicobacter pylori (H. pylori) is a spiral-shaped gram-negative bacterium that colonizes the gastric mucosa. It is a common infectious agent in children. In this study, we aim to evaluate the demographic data, and the clinical and histopathological findings of pediatric patients that underwent upper gastrointestinal endoscopy (UGSE) in our clinic. METHODS: Between July 2017 and February 2019, 636 patients applied to the Selcuk University Faculty of Medicine, Pediatric Gastroenterology outpatient clinic with complaints of epigastric abdominal pain and/or dyspeptic complaints. Patients who underwent upper gastrointestinal endoscopy were evaluated retrospectively. Data on age, gender, family history of peptic ulcer disease, and family history of H. pylori were recorded. Endoscopic and histopathological findings were collected from medical records. RESULTS: 235 (36.9%) of the patients participating in the study were male, and 401 (63.1%) were female. H. pylori infection was detected in 277 (43.6%) patients as a result of histopathological examination of H. Pylori, urea breath tests and H. Pylori antigen tests in the stools of patients are included in the study. Nodular antral gastritis was detected in 282 (44.3%) of our patients endoscopically. H. pylori was detected in 83.7% (n: 236) of the 282 patients with nodular antral gastritis. Nodular antral gastritis was observed to be significantly higher in H. pylori-positive patients than in H. pylori-negative cases (odds ratio (OR), 39.16; 95% confidence interval (CI), 24.88-61.64; p: <0.001). CONCLUSION: Nodular antral gastritis is caused by chronic H. pylori infection. It is predicted that early detection of H. pylori infection in children is important and may decrease complications later in life. Our study shows that all the markers evaluated are very good predictors of H. pylori infection. Positive significant association was found between the prevalence of H. pylori infection and nodular antral gastritis.

Retinal and choroidal vascular changes in newly diagnosed celiac disease: An optical coherence tomography angiography study.

PURPOSE: To investigate the retinal and choroidal microcirculation changes in celiac disease (CD) patients via optical coherence tomography angiography (OCT-A). METHODS: This cross-sectional study included 44 pediatric patients with newly diagnosed CD and 44 healthy pediatric subjects. The vascular densities (VD) of the superficial, deep, and choriocapillar plexuses (VDs, VDd, and VDcc, respectively) (%), the superficial and deep foveal avascular zones (FAZs and FAZd) (%), the central macular thickness (CMT) (µm), and the subfoveal choroidal thickness (SFCT) (µm) were measured with swept-source OCT-A in addition to a complete ophthalmological examination. RESULTS: Mean ages of the CD patients and the healthy participants were 12.02 ± 2.9 and 13.6 ± 2.3 years, respectively. The central sectors of the VDs and VDd measurements were found to be significantly higher in the study group compared to the control group (p = 0.006; P = 0.001, respectively), and the temporal and nasal values of the VDcc measurements were significantly lower in the study group than in the control group (p < 0.05 for both values). CMT and FAZ metrics did not differ between the groups (p > 0.05). SFCT was significantly reduced (p = 0.001), and choroidal thinning was more considerable in female CD patients (p = 0.045). CONCLUSION: CD seems to affect macular and choroidal microcirculation. The reduced choriocapillaris plexus parameters and choroidal thickness may provide disease activity information.

Gastrointestinal and Liver Manifestations in Children with COVID-19 and Their Relationship to Clinical Course.

OBJECTIVE: Coronavirus disease 2019 is a major health problem in all age groups. Although most clinical symptoms are respiratory, gastrointestinal symptoms are often reported. This is a major concern for children and has limited research coverage. In this study, we evaluated the frequencies of gastrointestinal symptoms and liver biochemical findings in children with coronavirus disease 2019 and their relationship with clinical course and length of hospital stay. MATERIALS AND METHODS: Demographic data, clinical, and laboratory findings of children with Coronavirus disease 2019 who were followed up by the Department of Pediatric Infectious Diseases between March 2020 and August 2020 were recorded. They were classified accord- ing to age groups as <5 years, 5-10 years, and >10 years. Laboratory findings were analyzed according to age groups. Demographic, clinical, and laboratory findings were compared in both situations, the presence of gastrointestinal symptoms and the presence of elevated liver enzymes. It was considered statistically significant if it was <.05. RESULTS: A total of 294 patients (median age 10 years [14 days to 18 years]) were enrolled in this study. Although fever is the most common symptom of coronavirus disease 2019, 15.6% of patients presented with acute gastroenteritis. Most patients with liver involvement (n = 130, 44.2%) were under 5 years of age (n = 74, 56.9%, P <.001). The patterns of abnormal liver test results were cholestatic (71.5%), hepatocellular (18.4%), and mixed (10%) types. Severe or mas- sive elevation of aminotransferase or liver failure was not observed. No statistically significant difference was noted in outcomes, including length of stay, for patients with gastrointestinal symptoms (P = .178) or liver involvement (P = .146). CONCLUSION: The presence of gastrointestinal symptoms or elevated liver enzymes does not affect the course of the disease in children with coronavirus disease 2019.

Metastatic mandibular neuroblastoma: a rare cause of tooth mobility.

Neuroblastoma (NBL), a malignant embryonic tumor derived from neural crest cells, is the most common tumor worldwide among children less than 1 year of age. Metastasis to the mandible is uncommon. This article reports the case of a 15-month-old male diagnosed with NBL with bone metastasis including the mandible which resulted in severe tooth mobility. Dentists or pediatricians should consider the primary or metastatic tumors of the maxillofacial region in the differential diagnosis in children presenting with premature loss of teeth related to tooth mobility.

Is there a relationship between Helicobacter pylori infection and erosive reflux disease in children?

AIM: The aim of this study was to investigate the relationship between Helicobacter pylori infection and erosive reflux disease in children. METHODS: A total of 206 children [mean age 8.4 +/- 4.9 (0.16-18) years] who underwent diagnostic upper endoscopy were tested for H. pylori infection between 2002 and 2005 and the relationship between H. pylori infection and gastro-oesophageal reflux disease was investigated retrospectively. Endoscopic and histopathological findings were examined retrospectively. When reflux-related oesophageal damage was identified as a result of the histological examination of endoscopic biopsy samples collected from distal oesophagus, the patients were diagnosed with gastro-oesophageal reflux disease and divided into two groups: those with macroscopic erosions or ulceration constituted the erosive oesophagitis group; those without constituted the non-erosive reflux disease group. RESULTS: Prevalence of H. pylori infection was 31.3% in the patients with gastro-oesophageal reflux disease and 36.7% in the control group (p > 0.05). Prevalence of erosive oesophagitis was found to be 23.8% in the patients with H. pylori infection and 41.3% in those without (p > 0.05). CONCLUSION: No negative significant association was found between the prevalence of H. pylori infection and erosive oesophagitis. Presence of H. pylori infection did not influence the severity of oesophagitis either.

Pseudomass of the sternal manubrium in osteogenesis imperfecta.

Skeletal abnormalities such as hypertrophic callus formation and "popcorn" calcifications are rare radiological findings of osteogenesis imperfecta, causing tumor-like appearances on imaging. We report on a 7-year-old girl with osteogenesis imperfecta presenting with hepatomegaly and palpable lymphadenopathy in the left inguinal region on physical examination. Computed tomography examination revealed a high-density mass-like lesion of the manubrium sterni. Ultrasonography and a lateral roentgenogram of the chest verified that this was a pseudomass caused by a bowed sternal manubrium.