Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in a small child: A case report.

INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially lethal disorder, characterized by a dysregulation of the immune response, leading to a severe inflammatory syndrome. Epstein-Barr virus (EBV)-associated HLH is a form of secondary HLH, a fulminant presentation of an otherwise benign viral infection. PATIENT CONCERNS: We report the case of a 3-year-old girl who presented with fever, signs of accute upper respiratory tract infection and spontaneous, disseminated ecchymoses. Initial laboratory tests revealed pancytopenia. A bone marrow aspirate was performed, which revealed megaloblasts and numerous macrophages, with abundant foamy cytoplasm. Megaloblastic anemia was excluded, as the levels of vitamin B12 and folic acid were both within normal ranges. DIAGNOSIS: Hyperferritinemia, hypertriglyceridemia, hypofibrinogenemia, and splenomegaly were relevant criteria for the diagnosis of HLH, in accordance with the bone marrow specimen. Positive immunoglobulin M antibodies for EBV were supportive of an acute EBV infection, which was the most probable trigger of HLH. The patient's evolution was complicated by a massive epistaxis, in the context of thrombocytopenia which required plasma, thrombocyte, and erythrocyte substitutes. INTERVENTION: The patient was started on a treatment regimen of 8 weeks with etoposide and dexamethasone. OUTCOME: Her evolution was favorable, the treatment being successful in remission induction. CONCLUSION: Our case emphasizes the diagnostic challenges of HLH, in a patient with EBV infection whose evolution was hindered by a severe epistaxis, with potentially fatal outcome.

Neonatal polycystic kidney disease, a potential life-threatening condition at this age: A case report.

RATIONALE: Autosomal recessive polycystic kidney disease (ARPKD) is a severe rare genetic condition, with high mortality rates and autosomal recessive pattern of transmission similar to most early onset cystic kidney diseases. The mortality rates can reach up to 30% during the neonatal period. PATIENT CONCERNS: We report a case of a 27-day-old male neonate admitted in our clinic for fever, foul-smelling urine, and diarrhea. A previous abdominal ultrasound at the age of 2 weeks revealed enlarged, hyperechoic kidneys, no abnormalities of the urinary exam. Clinical examination revealed poor general status, ill-looking face, diminished cutaneous turgor, distended abdomen, and palpable kidneys. Laboratory tests pointed out leukopenia, anemia, border-line platelet count, elevated inflammatory biomarker level, hyponatremia, hypoalbuminemia, proteinuria, leukocyturia, and hematuria. Both urine and blood cultures were positive for E. coli. DIAGNOSES: Abdominal ultrasound revealed bilateral nephromegaly, diminished parenchymatous index, with the absence of differentiation between the cortex and medulla. Abdominal MRI described bilateral nephromegaly, the hypertrophy comprising especially the structures of Malpighi pyramids, with multiple cystic lesions disseminated within both kidneys, projected also in Malpighi pyramids, their diameters ranging between 2 and 7 mm. Thus, our final diagnoses were polycystic kidney disease and sepsis due to urinary tract infection with E. coli. INTERVENTIONS: After treating the infection, the patient was referred to a more experienced center for appropriate management of polycystic kidney disease. OUTCOMES: The progress of the patient until the age of 1 year and 2 months has been remarkably favorable, presenting first-degree chronic kidney disease, with normal blood parameters and controlled blood pressure values, no other episodes of urinary infection, and without supplementary pathological changes in ultrasound. LESSONS: Despite the poor prognosis of PKD reported in the literature, our case had an outstandingly favorable evolution during the first 2 years of life most-likely due to the early diagnosis and treatment, but also proper monitoring.

The peculiarities of Kawasaki disease at the extremes of age: Two case reports.

RATIONALE: Extremes of age is an important risk factor for the development of coronary arteries aneurysms (CAAs) associated to Kawasaki disease (KD) along with male gender, prolonged fever and a delay in diagnosis or treatment. PATIENT CONCERNS: We report two cases of KD in the extremes of age, a 5-month-old male infant and a 9-year-old child in order to underline the features of this disorder outside the typical age range of 1 to 4 years. The 5-month-old male was admitted in our clinic for generalized polymorphous exanthema and fever for approximately 7 days. The laboratory test pointed out leukocytosis and increased inflammatory biomarkers. The 9-year-old male child was admitted in our clinic for fever and submandibular adenopathy. The onset was approximately 5 days before the admission with a sudden development of unilateral, painless, submandibular lymphadenopathy for which the ENT specialist recommended antibiotics and nonsteroid anti-inflammatory drugs. In the 2nd day of admission, he presented severe desquamation of hands and soles. DIAGNOSIS: Both cases were diagnosed with KD. The echocardiography showed no cardiac impairment in the infant, while in the older patient it revealed mild dilation of the left coronary artery. INTERVENTIONS: Both patients received intravenously immunoglobulin and pulsed methylprednisolone. OUTCOMES: The evolution was favorable in both cases, but in the infant, the C-reactive protein levels persisted mildly elevated for approximately 2 months after the diagnosis. LESSONS: The peculiarities of KD in the extremes of age are related to a higher frequency of incomplete features and an increased incidence of coronary artery lesions resulting in a delay of the diagnosis, and subsequent poorer outcomes.

Mushroom intoxication, a fatal condition in Romanian children: Two case reports.

RATIONALE: Approximately 5000 species of wild mushroom are reported worldwide, of which 100 are documented as poisonous and <10 are fatal. The clinical picture of patients with wild mushroom intoxication depends mostly on the type of ingested mushroom, ranging from mild gastrointestinal symptoms to organ failure and death. PATIENT CONCERNS: We report 2 children, sister and brother admitted in our clinic for gastrointestinal symptoms: abdominal pain, nausea, vomiting, and diarrhea after wild mushroom ingestion. DIAGNOSIS: The laboratory tests revealed hepatic cytolysis syndrome, hyperbilirubinemia, impaired coagulation status, hypoalbuminemia, hypoglycemia, and electrolytic unbalances in both cases. Abdominal ultrasound showed hepatomegaly and ascites. INTERVENTION: After admission, both cases received penicillin by vein, activated charcoal, liver protectors, glucose, and electrolytes perfusions. Nevertheless, their status worsened and required the transfer to the pediatric intensive care unit for appropriate supportive measure. Therefore, therapeutic plasma exchange was initiated along with N-acetyl cysteine and hemostatic drugs. OUTCOMES: Despite all these therapeutic interventions, both cases developed hepatorenal syndrome and died after a couple of days from ingestion. LESSONS: Mushroom poisoning remains a public health problem in developing countries. Preventable strategies and education regarding the consumption of wild type mushrooms are essential for decreasing the morbidity and mortality rates in these areas.

Early Inflammatory Status Related to Pediatric Obesity.

Background: Obese individuals are often in a chronic inflammatory condition due to the malfunction of immune-related activities in the adipose tissue, involving a transient infiltration of neutrophils within the abdominal fat and their binding to adipocytes. Neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are considered cost-effective markers for the detection of subclinical inflammation. Our study intends to assess the early stages of inflammation associated with overweight and obesity in children. Materials and Methods: We performed a prospective study with 164 children, aged between 5 and 18 years, admitted to a Pediatric Tertiary Hospital in Romania between January 2018 and January 2019. The patients were divided according to body mass index (BMI) into two groups: Group 1: 77 overweight and obese children (BMI percentile ≥85), and Group 2: 87 children with a normal BMI, in order to evaluate the correlation between BMI and laboratory parameters (CBC, ESR, transaminase, total protein, albumin, and blood glucose levels), inflammatory biomarkers, NLR and PLR, and changes in abdominal ultrasound findings. Results: We found that the leukocyte, lymphocyte, erythrocyte, platelet, CRP, and transaminase levels were significantly higher in the overweight/obese group (p = 0.0379, p = 0.0002, p = 0.0003, p = 0.0006, p < 0.0001, p = 0.0332, and p < 0.0001, respectively). No significant statistical differences between the two groups in terms of neutrophil, hemoglobin, albumin, total protein, and glycemia levels were noted (p > 0.05). Moreover, NLR and PLR did not differ significantly between the two groups (p = 0.4674 and p = 0.9973, respectively). Conclusions: Obesity is associated with systemic low-grade inflammation which is reaching alarming rates worldwide among both children and adults. Our study proved that leukocyte, lymphocyte, erythrocyte, and platelet levels are significantly higher in overweight/obese children, emphasizing the inflammatory status related to this condition. Therefore, obesity-related studies involving pediatric patients are of major interest in order to develop appropriate methods to prevent the development of further complications in adulthood.

Early onset Peutz-Jeghers syndrome, the importance of appropriate diagnosis and follow-up: A case report.

RATIONALE: Peutz-Jeghers syndrome (PJS) is currently defined as an inherited condition, also called a familial hamartomatous polyposis syndrome, characterized by the association between pigmented mucocutaneous lesions and hamartomatous polyps in the gastrointestinal tract, especially in the small bowel. PATIENT CONCERNS: We present the case of a 7-year-old male patients, diagnosed at the age of 3 years with PJS due to a surgical intervention for acute abdominal pain that revealed a rectal polyp associated with hyperpigmented maculae on the lips and oral mucosa. His family history revealed the same condition in his mother, who was diagnosed much later, at the age of 25 years. DIAGNOSES: The upper and lower digestive endoscopy revealed multiple polyps of different sizes within the stomach, and 2 polyps at 5 cm from the anal orifice. The barium enterography revealed 3 polyps within the ileum. INTERVENTIONS: We administered blood transfusions and both recto-anal polyps were surgically removed. OUTCOMES: The outcome was favorable and the patient was discharged with the recommendations for clinical assessment at least every 6 months, annual laboratory tests, but also follow-up of the detected polyps and screening by upper digestive endoscopy, barium enterography and colonoscopy every 2 years. LESSONS: Early onset of PJS presenting with polys is quite rare since they require time for their development manifesting usually after the first decade of life. Close monitoring is essential for PJS in order to prevent potential complications and early detect the development of related malignancies.

The usefulness of inflammatory biomarkers in diagnosing child and adolescent's gastritis: STROBE compliant article.

Neutrophil to lymphocyte ratio (NLR) is a simple, noninvasive, inexpensive inflammatory marker that can useful in the assessment of inflammatory activity, especially in pediatric ages. The aim of our study was to establish correlations between the presence of Helicobacter pylori (HP) proved histologically and NLR in children.A prospective, case-control study was performed on 137 pediatric patients aged between 1 and 18 years, admitted in a Pediatric Tertiary Hospital from Romania, between April 2016 and January 2018. According to the histologic examination, the children were divided into 2 groups: group 1: 50 children with HP infection, and group 2: 87 children without any pathologic findings.The mean age for the study group was 12.86 ±â€Š3.796 years, whereas for control group, it was 12.10 ±â€Š3.879 years (P = .3001). HP infection was significantly more frequent among children from rural area (P = .0089). Epigastric pain and loss of appetite were significantly associated with HP infection (P = .0350 /P = .0281). We noticed that the leukocyte and neutrophil counts were significantly higher in group 1 (P = .0076/P = .0306). We did not find any significant statistical differences between the 2 groups in terms of lymphocytes, erythrocyte sedimentation rate, and NLR or other assessed laboratory parameters. Regarding the IgA antibodies anti-HP and rapid urease test, they were both significantly associated with histologically confirmed HP infection (P < .0001).Even though, we did not identify significant differences in term of NLR between HP-induced gastritis children and healthy controls, the mean NLR values were higher HP-positive patients.

An uncommon case of herpetic esophagitis in a small child with allergic rhinitis: A case report and literature review (CARE compliant).

RATIONALE: Herpetic esophagitis (HE) is a common condition in immunosuppressed patients, but a rare entity in immunocompetent patients affecting especially male teenagers and young adults. PATIENT CONCERNS: We report the case of a 5-year-old male patient, with a history of allergic rhinitis admitted in our clinic for acute onset fever refractory to antipyretics, chest pain, anorexia, refusal of solid food, accepting only small amounts of fluids, odynophagia, and epigastric pain. The clinical exam revealed severe malaise, pallor, decreased skin turgor, abdominal epigastric tenderness, heartburn at palpation within the epigastric area. The laboratory tests showed leukocytosis, monocytosis, hypoglycaemia, and elevated inflammatory biomarkers. DIAGNOSES: The serology tests for human immunodeficiency virus (HIV), cytomegalovirus (CMV), Epstein-Barr virus (EBV), and herpes simplex virus (HSV) were negative, except for immunoglobulin G (IgG) anti-EBV which was positive. The chest radiography was normal, and the abdominal ultrasound showed abdominal bloating. The upper digestive endoscopy revealed friable esophageal mucosa, with multiple ulceration on the entire esophagus, and whitish exudates especially on the middle and lower part of the esophagus suggesting a possible eosinophilic esophagitis or caused by Candida. Despite the empirical initiated treatment, the patient's evolution was only slowly favorable. The histological exam established the diagnosis of HE. INTERVENTIONS: We initiated acyclovir therapy with an outstandingly favorable evolution. OUTCOMES: After 1 month, we detected the seroconversion of IgG anti-HSV. The patient's follow-up revealed no additional complaints. LESSONS: Despite its rarity in immunocompetent individuals, HE must be taken into account even in otherwise healthy small children. Allergic conditions might represent a predisposing factor for HE.

Pediatric ovarian tumors, a challenge for pediatrician and gynecologist: Three case reports (CARE compliant).

RATIONALE: Ovarian or adnexal tumors are very rare in patients below the age of 18 years, most of them being functional cysts, only 10% being malignant. We report 3 cases of ovarian tumors with the aim of revealing the particularities regarding the diagnosis and management of benign and malignant ovarian tumors in pediatric patients. PATIENT CONCERNS: The 1st case, a 9-year-old girl presented for diffuse abdominal pain, distended abdomen and rapid increase in abdominal volume. The 2nd case describes a 13-year-old female patient admitted for acute abdominal pain and nausea, and the 3rd one was an 18-year-old female teenager who presented for distended abdomen, intermittent diffuse abdominal pain and rapid increase in abdomen volume. DIAGNOSES: The abdominal ultrasound revealed in all 3 patients suggestive signs for ovarian tumors. INTERVENTIONS: The 1st patient underwent laparotomy with adnexectomy, and the histopathological exam showed the diagnosis of dysgerminoma. The 2nd patient underwent laparoscopy with adnexectomy, and the histopathological exam revealed a borderline tumor. The 3rd patient benefited by a laparotomy with left ovariectomy, and the histopathological exam pointed out a mature teratoma. OUTCOMES: The outcome was favorable in all 3 cases, but the patients with dysgerminoma and mature teratoma were further referred to the oncologist for proper assessment. LESSONS: Laparoscopy may represent the first choice for uncomplicated ovarian masses. The diagnosis and the therapeutic plan must be based on symptoms, pelvic ultrasound, the time of menarche and the potential serum markers.

The Relationship between Toll-like Receptors and Helicobacter pylori-Related Gastropathies: Still a Controversial Topic.

Innate immunity represents the first barrier against bacterial invasion. Toll-like receptors (TLRs) belong to the large family of pattern recognition receptors (PRRs), and their activation leads to the induction of inflammatory cytokines, chemokines, antigen-presenting molecules, and costimulatory molecules. Recent studies have focused on identifying the association between TLRs and Helicobacter pylori- (H. pylori-) related diseases. Therefore, this minireview focuses on assessing the role of these TLRs in the development of H. pylori-related gastropathies. Both TLR2 and TLR were found to be involved in H. pylori LPS recognition, with contradictory results most likely due to both the inability to obtain pure LPS in experimental studies and the heterogeneity of the bacterial LPS. In addition, TLR2 was found to be the most extensively expressed gene among all the TLRs in gastric tumors. High levels of TLR4 were also associated with a higher risk of gastric cancer. TLR5 was initially associated with the recognition of H. pylori flagellin, but it seems that this bacterium has developed mechanisms to escape this recognition representing an important factor involved in the persistence of this infection and subsequent carcinogenesis. TLR9, the only TLR with both anti- and proinflammatory roles, was involved in the recognition of H. pylori DNA. The dichotomous role of TLR9, promoting or suppressing the infection, depends on the gastric environment. Recently, TLR7 and TLR8 were shown to recognize purified H. pylori RNA, thereby inducing proinflammatory cytokines. TLR1 and TLR10 gene polymorphisms were associated with a higher risk for gastric cancer in H. pylori-infected individuals. Different gene polymorphisms of these TLRs were found to be associated with gastric cancer depending mostly on ethnicity. Further studies are required in order to develop preventive and therapeutic strategies against H. pylori infections based on the functions of TLRs.

Musculoskeletal ultrasound: a useful tool for diagnosis of hip developmental dysplasia: One single-center experience.

Developmental dysplasia of the hip (DDH) is one of the most common congenital abnormalities of the musculoskeletal apparatus in newborns. The aim of this study was to analyze the contribution of ultrasonography in the detection of DDH in newborns and infants, identifying the regional incidence of this pathology in the central area of Romania, emphasizing the risk factors that underlie DDH etiopathogenicity.This article represents a retrospective study of 847 newborns and infants examined in the Imagistic Department of a medical center from the central area of Romania, between January 1 and December 31, 2016. The ultrasound examinations were performed for the bilateral coxofemoral joints, using the method and technique described by Graf. For subjects born in the same medical center, data regarding mother's age, birth weights, and type of delivery (natural vs. caesarian section) were statistically analyzed.In our study group, the frequency of ultrasound diagnosis obtained from the examinations of right and left hips showed that the most frequent stage was type IA, and the rarest stage was III. The IA stage of right coxofemoral joints (87.3%) was higher than in the left coxofemoral joints (87.2%). The incidence of hip dysplasia (type III) diagnosed with ultrasound examinations in subjects from the central area of Romania was 0.2% (0.1% in both hips and 0.1% for the left coxofemoral joint).The musculoskeletal ultrasound examination is effective in early detection of hip dysplasia. The implementation of national and regional programs that promote indications, risk factors, and the screening age for DDH in both rural and urban areas could be a step forward in the early diagnosis of hip dysplasia for newborns and infants. The low incidence of DDH from our study group is not able to identify the role of advanced age of the mother, high birth weight of the newborn, or caesarean section as risk factors involved in the etiology of hip dysplasia. The implementation of national and regional programs that promote the musculoskeletal ultrasound as a screening imagistic investigation for DDH, in both rural and urban areas, could be a step forward in the early diagnosis of hip dysplasia for newborns and infants.

Ibuprofen, a Potential Cause of Acute Hemorrhagic Gastritis in Children - A Case Report.

INTRODUCTION: Upper gastrointestinal bleeding is an uncommon but possible life-threatening entity in children, frequently caused by erosive gastritis. Non-steroidal anti-inflammatory drugs are one of the most common class of drugs which can cause gastrointestinal complications, including hemorrhagic gastritis. CASE REPORT: The case of a 6-year-old male, admitted for hematemesis, abdominal pain and loss of appetite. It was ascertained at the time of admission, that ibuprofen had been prescribed as the patient had a fever. This was inappropriately administered as the mother did not respect the intervals between the doses.Initial laboratory tests revealed neutrophilia, leukopenia, high levels of lactate dehydrogenase and urea. An upper digestive endoscopy revealed an increased friability of the mucosa, digested blood in the gastric corpus and fornix. No active bleeding site was detected. The histopathological examination described a reactive modification of the corporeal gastric mucosa. Intravenous treatment with proton pump inhibitors and fluid replacement were initiated, with favorable results. CONCLUSION: Ibuprofen can lead to upper digestive hemorrhage independently of the administered dose. Parents should avoid administering Ibuprofen for fever suppression without consulting their pediatrician.

Prenatal diagnosis of cleft lip and cleft lip palate - a case series.

AIM: Orofacial clefts comprise cleft lip (CL) or cleft lip-palate (CLP) and are the most frequently encountered malformation of the facial region, accounting for approximately 1-2.2/1,000 live births. The aim of this study was to reveal the particularities regarding the prenatal diagnosis of orofacial clefts in a series of 11 cases diagnosed in a tertiary center.Material and methods: The study was performed in a tertiary diagnostic center for a period of 8 years (January 2010 - December 2017), on8125 patients that were assessed for screening or suspicion of malformations. RESULTS: During the assessed period a number of 11 fetuses (0.13%) were diagnosed by 2D and 3D ultrasound with CL (4 cases) or CLP (7 cases). The smallest gestational age at diagnosis was of 14 weeks, whereas the highest was 35 weeks. Of the 7 cases diagnosed with CLP, 4 presented also other associated anomalies that involved the central nervous system, the kidney, the skeleton and the stomach. All 4 cases of CL had identifiable associated anomalies. Termination of pregnancy was encountered in 3 cases with CLP. CONCLUSIONS: CLP can be diagnosed even at the end of the 1st trimester of pregnancy. CL is usually diagnosed during the 2nd trimester ultrasound exam and is commonly an isolated anomaly.

Diagnostic challenges of celiac disease in a young child: A case report and a review of the literature.

RATIONALE: Celiac disease is a chronic, immune-mediated, multiorgan disorder that affects susceptible individuals, and it is triggered by gluten and other prolamins. PATIENT CONCERNS: We present the case of a 1-year-old male child, with a history of idiopathic pericardial effusion, admitted in our clinic for severe abdominal bloating, irritability, loss of appetite and intermittent diarrheic stools. The clinical findings were: influenced general status, irritability, distended abdomen, and diffuse abdominal tenderness. DIAGNOSES: The initial laboratory tests revealed anemia, leukocytosis, increased inflammatory biomarkers, high levels of transaminases, and hypoalbuminemia. The stool culture identified an enterocolitis with enteropathogenic Escherichia coli (E. coli). INTERVENTIONS: We initiated antibiotic treatment, substitution therapy with human albumin and probiotics with initial favorable evolution, but after 1 month, the patient was re-admitted for the persistence of intermittent diarrheic stools and abdominal bloating, when we established the diagnosis of cow's milk protein allergy. We initiated diary-free diet. OUTCOMES: Unfortunately, the patient was re-admitted after another 8 months, presenting the same clinical and laboratory findings as during the initial admission. We repeated the serology for celiac disease and we performed an upper gastrointestinal endoscopy with duodenal biopsies, which established the diagnosis of celiac disease. After 1 month of gluten-free diet, the patient's evolution improved considerably. LESSONS: Enterocolitis with E. coli could be considered as trigger for CD in our case. The diagnosis of CD in small children can be hindered by an insufficient gluten-exposure, and can lead to a delay in the diagnosis as in the case presented above.

A rare case of iron-pill induced gastritis in a female teenager: A case report and a review of the literature.

RATIONALE: The treatment of iron-deficiency anemia with oral iron supplements can present side-effects on the GI tract mucosa including necrosis, ulceration, or ischemia. The particular endoscopic findings and the histopathological exam will establish the diagnosis of erosive gastritis with iron deposits in the gastric mucosa. PATIENT CONCERNS: We present the case of a 14-year-old female admitted in our clinic for upper digestive hemorrhage, nausea, melena, and abdominal pain. Her personal history revealed iron deficiency anemia receiving oral iron supplements for approximately 2 weeks. DIAGNOSIS: The laboratory tests at the moment of admission pointed out anemia, increased level of serum iron, increased liver transaminases, a decreased level of ferritin, but with normal levels of both total iron-binding capacity and transferrin. INTERVENTIONS: The eso-gastro-duodenoscopy revealed multiple brown deposits on the surface of the gastric mucosa and multiple hemorrhagic lesions, under the aspect of erosions all over the gastric mucosa, but more severe in the antral part, and the histopathological exam confirmed the presence of iron deposits at this level. CONCLUSION: Iron-pill induced gastritis is a rare, under-diagnosed entity that can be present even at pediatric ages with potential severe clinical impact.

The impact of host's genetic susceptibility on Helicobacter pylori infection in children.

The aim of our study was to investigate the impact of interleukin (IL)-6 190C/T, IL-6 174G/C, IL-6 572G/C, tumor necrosis factor-alpha (TNF-α) 308G/A, and angiotensin-converting enzyme (ACE) I/D gene polymorphisms on Helicobacter pylori (H. pylori) infection in children.A cross-sectional study was performed on 126 children (57 children with H. pylori infection and 69 children without H. pylori infection) aged between 3 and 18 years presenting to a Pediatrics Tertiary Hospital from Romania. Children were assessed clinically, endoscopically, histopathologically, and genetically.In our study, we found that the presence of the CT and CT+TT genotypes of IL-6 190C/T (P < .002 and P = .04), allele G of IL-6 572 G/C polymorphism (P = .01), genotypes GA and AA of TNF-α 308 G/A polymorphism (P = .04, P = .01), and genotype II of ACE I/D polymorphism (P = .02) were associated with H. pylori infection, while the CC genotype of IL-6 174G/C polymorphism was scarcely encountered in children with H. pylori infection [P = .02, odds ratio (OR) = 0.06; 95% confidence interval (95% CI): 0.003-0.128]. Taking under consideration the 4 variant genotypes (IL-6 572G/C, IL-6 190C/T, TNF-α 308G/A, and ACE I/D), we noticed a 2 times higher incidence of H. pylori infection (OR = 6.34; 95% CI: 2.15-25.8).We may consider that the IL-6 190C/T, IL-6 174G/C, IL-6 572G/C, TNF-α 308G/A, and ACE I/D gene polymorphisms may increase the children's susceptibility for acquiring H. pylori infection; therefore, they may contribute to the pathogenesis of H. pylori gastritis.

Clinical and biological correlations in celiac disease in children: the prospective single experience of a romanian tertiary center: A case-control study (Strobe-Compliant study).

Celiac disease-a chronic inflammatory disease of the intestine-is triggered by gluten or associated protein consumption.The aim of our study was to assess the sensitivity, specificity of the combined anti-transglutaminase 2 (TG2)/deamidated gliadin peptide antibodies (DGP), and antiendomisium antibodies (EMA), to determine the distribution of HLA-DQ2/DQ8 for the 140 tested patients, and also to evaluate the clinical and laboratory characteristics of patients admitted with the suspicion of celiac disease (CD). Children included in the study were divided into: group 1, patients with confirmed CD; group 2, patients with "potential' CD; group 3, control group, patients without CD. We assessed the standard laboratory data, the level of TG2/DGP and EMA antibodies, as well as the distribution of HLA molecules in the selected patients. Histopathological examination was considered the criterion standard for diagnosis in most cases.The sensitivity of TG2/DGP was 85% and the specificity 92%. EMA showed a sensitivity of 82% and a specificity of 98%. The vast majority of patients diagnosed with CD were either HLA-DQ2.5 (encoded by DQA1*05 & DQB1*02) positive (87.5%) or HLA-DQ8 (encoded by DQB1*03:02) positive (12.5%). One patient showed a positivity only for HLA-DQ2.2 (encoded by DQA1*02 & B1*02).Our study showed that the genetic risk for CD was present in more than one-third of the cases without a confirmed diagnosis of CD. Therefore, the awareness of genetic susceptibility for CD is essential because of the fact that these individuals can develop the disease at any point of their lives. The sensitivity of TG2/DGP and EMA were very similar, whereas EMA presented a higher specificity as that of TG2/DGP.

Inflammatory bowel diseases: a burden in pediatrics: Case series and a review of the literature.

INTRODUCTION: Inflammatory bowel disease is a chronic condition of the gastrointestinal tract, comprising mainly Crohn disease (CD) and ulcerative colitis (UC). Both of them are frequently encountered in children, being multifactorial conditions, with an unclear etiology. PATIENTS CONCERNS: We present 4 cases of inflammatory bowel disease (IBD) in children in order to underline the variable evolution depending on the patient's particularities. DIAGNOSIS, INTERVENTIONS AND OUTCOMES: The first case, a 13-year-old male patient, with a history of Henoch-Schonlein purpura, was admitted for rectal bleeding and weight loss, with normal laboratory parameters. The colonoscopy and the histopathological examination established the diagnosis of UC. The evolution was initially favorable under corticosteroids and sulfasalazine, but with 3 relapses in 2 years. The second case, a 16-year-old male patient, with a history of lactose intolerance and constipation, was admitted for bloody, diarrheic stools, the laboratory tests pointing out only leukocytosis with neutrophilia. The colonoscopy and histopathological examination established the diagnosis of UC. The patient's evolution was slowly favorable. The third case, a 9-year old male patient, with emotional disorders and babbling, admitted for semiconsistent, bloody stools, with increased inflammatory tests, whose colonoscopy pointed out diffuse edema and hemorrhages, the histopathological examination establishing the diagnosis of CD. The evolution was initially favorable, but with 5 relapses in 3 years. The last case, a 12-year-old male patient, was admitted with diarrheic, bloody stools, refractory to antibiotics, and weight loss, with increased inflammatory tests. The colonoscopy pointed out ulcerations, hemorrhages, and disseminated puss deposits. The histopathological examination established the diagnosis of CD. The patient's evolution was favorable, with only 1 relapse in 3 years. CONCLUSIONS: The adequate management, especially the self-management can influence the prognosis of patients with IBD, even though it is unpredictable and burdened by the risk of malignant transformation.

Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.

INTRODUCTION: Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES: We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. Hand X-ray revealed a radiologic abnormality of the right radius, therefore the child was referred to our clinic for further investigations. The X-rays revealed multiple osteochondromas of the radius, metacarpal bones, hand phalangeal bones, femur, tibia, fibula, metatarsal bones, and foot phalangeal bones. We mention that the same radiological aspect was identified in the case of the patient's mother, undiagnosed until that moment. OUTCOMES: The particularity of this case consists in identification of a rare genetic pathology, HME in a 5-year-old patient, without any known familial history, after the occurrence of a nontraumatic joint dislocation of the right index finger. CONCLUSION: HME is a rare genetic condition, without a curative treatment, burdened by multiple complications, and whose diagnosis is usually established during childhood.

Type V hypertriglyceridemia in children, a therapeutic challenge in pediatrics: A case report and a review of the literature.

RATIONALE: Hypertriglyceridemia is defined as a level of triglycerides above 150 mg/dL. The complex causes and classification of hypertriglyceridemia lead to difficulties in the diagnosis and management of this condition. PATIENT CONCERNS: We present the case of a 15 years and 6 months old female teenager, admitted in our clinic for the following complaints: severe abdominal pain predominantly in the lateral left quadrant, nausea, vomiting, and the lack of stools for 2 days. The clinical exam showed: impaired general status, painful abdomen at superficial and deep palpation in the left and upper abdominal quadrants, the absence of stools for 2 days. DIAGNOSES: The laboratory parameters revealed leukocytosis with neutrophilia, thrombocytopenia, high level of serum amylase and triglycerides, and increased inflammatory biomarkers. The imagistic investigations showed ascites and paralytic ileus. INTERVENTIONS: The management was burdened by the side-effects of hypolipidemic drugs impairing the liver function and leading to rhabdomyolysis, but eventually the patient's outcome was good. OUTCOMES: Type V hyperlipoproteinemia is a rare condition accounting for approximately 5% of the cases. The risk for acute pancreatitis is well-known to be associated with hypertriglyceridemia, even though in rare cases. LESSONS: The prognosis of hypertriglyceridemia is pediatrics is burdened not only by the long-term risk factors associated to the diseases itself, but also by the negative effects of long-term hypolipidemic treatment.