Inflammatory bowel disease presenting with pyodermatitis-pyostomatitis vegetans in a pediatric patient: A case report and review of the literature.

Pyodermatitis-pyostomatitis vegetans (PD-PSV) is rarely reported in the pediatric population. Here, we provide a review of pediatric PD-PSV in the literature and report a case of widespread PD-PSV in a 15-year-old male without a previous history of inflammatory bowel disease or gastrointestinal symptoms. Clinical, histological, and immunopathological workup established PD-PSV and revealed subclinical Crohn's disease. Treatment with infliximab was effective in inducing rapid resolution of the lesions.

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Transient infantile hypertriglyceridemia (HTGT1; OMIM #614480) is a rare autosomal recessive disorder, which manifests in early infancy with transient hypertriglyceridemia, hepatomegaly, elevated liver enzymes, persistent fatty liver and hepatic fibrosis. This rare clinical entity is caused by inactivating mutations in the GPD1 gene, which encodes the cytosolic isoform of glycerol-3-phosphate dehydrogenase. Here we report on four patients from three unrelated families of diverse ethnic origins, who presented with hepatomegaly, liver steatosis, hypertriglyceridemia, with or without fasting ketotic hypoglycemia. Whole exome sequencing revealed the affected individuals to harbor deleterious biallelic mutations in the GPD1 gene, including the previously undescribed c.806G > A (p.Arg269Gln) and c.640T > C (p.Cys214Arg) mutations. The clinical features in three of our patients showed several differences compared to the original reports. One subject presented with recurrent episodes of fasting hypoglycemia along with hepatomegaly, hypetriglyceridemia, and elevated liver enzymes; the second showed a severe liver disease, with intrahepatic cholestasis associated with kidney involvement; finally, the third presented persistent hypertriglyceridemia at the age of 30 years. These findings expand the current knowledge of this rare disorder, both with regard to the phenotype and molecular basis. The enlarged phenotypic spectrum of glycerol-3-phosphate dehydrogenase 1 deficiency can mimic other inborn errors of metabolism with liver involvement and should alert clinicians to recognize this entity by considering GPD1 mutations in appropriate clinical settings.

Mucosal healing with methotrexate versus azathioprine treatment in pediatric Crohn's disease as reflected by fecal calprotectin.

BACKGROUND/OBJECTIVES: The current treatment goal for inflammatory bowel disease (IBD) is achievement of mucosal healing (MH). While established with biologic or azathioprine (AZA) therapies, the data on MH with methotrexate (MTX( treatment is scarce. We aimed to compare MH rate as reflected by FC in children with Crohn's disease (CD) treated with either MTX or thiopurines monotherapy. METHODS: A cross-sectional multicenter study including children with CD (<18 years), with documented mucosal ulcerations/erosions on their first endoscopy, who were in clinical and biochemical remission for at least 6 months on MTX or AZA/6-MP monotherapy and had fecal calprotectin (FC) measurements during remission. Clinical remission was defined as PCDAI<10 and normal C-reactive-protein (CRP) level. FC < 100 µg/gr was used as a marker of MH. Demographic, clinical and laboratory data were retrieved from the medical charts. RESULTS: 64 patients (41 males, age 16.6±4.2 years) were included; 36 with MTX, 26 with AZA and 2 with 6-MP treatment. The mean treatment dose was 14.0±1.8 mg/m2 for MTX, and 1.8±0.66 mg/kg for AZA, and mean therapy duration was 22 ±17.1 months. MH (FC < 100 µg/gr) was demonstrated in 14/36 (39%) and 18/28 (64%) of patients on MTX and AZA/6-MP therapy, respectively (p=0.04). Rates of FC < 300 µg/gr were comparable [27/36 (75%) MTX, 24/28 (86%) AZA/6-MP, p=0.29]. MH was associated with longer treatment duration (p=0.03). CONCLUSIONS: MH as reflected by FC < 100 µg/gr, was higher with AZA/6-MP compared to MTX treatment in pediatric CD.

Pulmonary functions in children with inflammatory bowel disease.

OBJECTIVE: To investigate fractional exhaled nitric-oxide (FeNO) levels in children with Crohn's disease (CD) and ulcerative colitis (UC) and their correlation to disease activity. MATERIALS AND METHODS: Children with CD and UC (aged 8-18 years) and age-matched healthy controls without respiratory symptoms were recruited. Disease activity was assessed using validated scores. All children performed spirometry and FeNO tests and the association between intestinal disease parameters and pulmonary functions was studied. RESULTS: Thirty-five children with CD, nine with UC, and 24 healthy controls were enrolled. The mean FeNO level was higher in children with CD compared with the controls. Increased FeNO levels (>23 parts per billion) were more common among CD and UC compared with healthy children (46, 33, and 0%, respectively, P<0.05). Nevertheless, FeNO levels did not correlate with disease activity. There were no significant differences between CD, UC patients, and healthy controls in any of the spirometric variables. CONCLUSION: FeNO level, a marker of airway inflammation, is elevated in children with inflammatory bowel diseases irrespective of their intestinal disease activity. Increased FeNO levels are not associated with respiratory symptoms, suggesting a latent pulmonary involvement in the systemic disease.

C reactive protein (CRP) as a predictor for true bacteremia in children.

BACKGROUND: Despite the recent advances in methods for culturing bacteria, at least 24 hours are needed for most pathogens to be recognized. This period may be critical for the differentiation of a true bacteremia from a contaminated culture. We studied the value of CRP compared to total leukocytes (WBC) and absolute neutrophil count (ANC) in differentiating positive, contaminated and negative blood cultures in various pediatric infectious diseases (pneumonia, acute gastroenteritis (AGE), urinary tract infection (UTI) and acute otitis media (AOM)). MATERIAL/METHODS: Data was collected retrospectively from patients who were admitted or discharged from to the pediatric ward with one of the above diagnoses. Children with chronic diseases or with immunodeficiency were excluded from the study. RESULTS: CRP levels were significantly higher in the positive culture group versus contaminated and negative groups (101 mg/L, 30.9 mg/L, 34.3 mg/L, respectively). The total leukocytes and ANC were not of value. When divided into diagnostic subgroups, CRP levels were significantly higher in the positive blood culture groups in patients with pneumonia and AGE. The sensitivity of a CRP value above 85 mg/L for pneumonia and UTI and above 30 mg/L for AGE and AOM in discriminating true positive versus contaminated culture was 70% with a specificity of 67.6% and a positive predictive value of 60.3%. CONCLUSIONS: CRP may be used for differentiation between positive and contaminated blood cultures in children and have been shown to be a better predictor than WBC or ANC for this purpose.