@article {10764, title = {Changing Epidemiology of Liver Involvement in Children With Celiac Disease.}, journal = {J Pediatr Gastroenterol Nutr}, volume = {68}, year = {2019}, month = {2019 Apr}, pages = {547-551}, abstract = {

OBJECTIVES: Available data indicate that liver involvement is present in a significant proportion of children with celiac disease (CD) at the diagnosis (elevated transaminases 15\%-57\%, autoimmune liver disease 1\%-2\%). We sought to evaluate prevalence, clinical course, and risk factors for liver involvement in a large cohort of children with CD.

METHODS: Children (age 0-18 years) diagnosed with CD from March 2010 to April 2016 were enrolled. Liver involvement was considered to be present when alanine transaminase (ALT) levels were >40 U/L (hypertransaminasemia [HTS]). Patients with HTS were re-evaluated after at least 12 months of a gluten-free diet.

RESULTS: CD was diagnosed in 806 patients during the study period; of these, ALT levels were available for 700 patients (86.9\%), and were elevated in 27 (3.9\%, HTS group); median ALT and aspartate transaminase levels in the HTS group were 57 U/L (interquartile range 49-80 U/L) and 67 U/L (interquartile range 53-85 U/L), respectively. Younger age, malabsorption symptoms, and low hemoglobin or ferritin were significantly more common in the HTS group at univariate analysis. At multivariate analysis, only age <=4.27 years correlated with risk of liver involvement (odds ratio 3.73; 95\% confidence interval: 1.61-8.66). When retested on a gluten-free diet, all but 3 patients normalized ALT levels; of these, 1 was diagnosed with sclerosing cholangitis.

CONCLUSIONS: Liver involvement in celiac children is now less frequent than previously reported, possibly due to changing CD epidemiology. Younger age is the only risk factor. Associated autoimmune liver disease is rare.

}, issn = {1536-4801}, doi = {10.1097/MPG.0000000000002209}, author = {Benelli, Elisa and Naviglio, Samuele and De Leo, Luigina and Stera, Giacomo and Giangreco, Manuela and Ronfani, Luca and Villanacci, Vincenzo and Martelossi, Stefano and Ventura, Alessandro and Not, Tarcisio} } @article {10756, title = {Anaphylaxis in atypical cold urticaria: case report and review of literature.}, journal = {Ital J Pediatr}, volume = {44}, year = {2018}, month = {2018 Nov 13}, pages = {135}, abstract = {

BACKGROUND: Cold-induced urticaria is a kind of physical urticaria characterized by the appearance of wheals after exposure to cold. The atypical form is a rare sub-type characterized by appearance of hives even in areas not directly exposed to the cold and by a negative cold stimulation test. Its diagnosis is often challenging because of the lack of specific tests and it is usually based on the patient{\textquoteright}s clinical history. Hypotension due to generalized exposure to the cold is described both in the typical and the atypical forms.

CASE PRESENTATION: We describe a 9-year-old boy who, at the beginning of the summer after the first swim in the sea, developed generalized urticaria, dyspnea, conjunctival hyperemia, blurred vision and loss of strength. The child was treated with intramuscular steroid and intravenous antihistamine, and the symptoms quickly resolved. Insect bite, contact with fish and drug ingestion were denied, and no unusual food had been eaten before the swim. A tentative diagnosis was made of either aquagenic urticaria or cold urticaria, but the specific tests were negative. Although the cause was unknown, prophylactic treatment with antihistamines was prescribed but in spite of this, wheals developed all over the body, after every swim in the sea. The child then came to our attention and relying on clinical history a diagnosis of atypical cold urticaria was made: development of hives even in areas not directly exposed to cold and a negative response to the cold stimulation test, are the characteristic features of this rare form of cold urticaria.

CONCLUSION: Atypical cold urticaria should be suspected in all cases of anaphylaxis related to cold exposure (i.e. contact with water) with a negative cold stimulation test.

}, keywords = {Anaphylaxis, Child, Cold Temperature, Humans, Male, Swimming, Urticaria}, issn = {1824-7288}, doi = {10.1186/s13052-018-0578-6}, author = {Benelli, Elisa and Longo, Giorgio and Barbi, Egidio and Berti, Irene} } @article {8079, title = {Coeliac disease in the ERA of the new ESPGHAN and BSPGHAN guidelines: a prospective cohort study.}, journal = {Arch Dis Child}, year = {2015}, month = {2015 Nov 17}, abstract = {

OBJECTIVE: To evaluate the consequences of the last European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and British Society of Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) guidelines for the diagnosis of coeliac disease (CD) by means of a prospective study.

DESIGN: Prospective cohort study.

SETTING: Institute for Maternal and Child Health IRCCS Burlo Garofolo (Trieste, Italy).

PATIENTS: Children diagnosed with CD without a duodenal biopsy (group 1), following the last ESPGHAN and BSPGHAN guidelines, and children diagnosed with a duodenal biopsy, matched for sex, age and year of diagnosis (group 2), were prospectively enrolled over a 3-year period. All patients were put on a gluten-free diet (GFD) and were followed up for clinical conditions and laboratory testing at 6 months every year since diagnosis (median follow up: 1.9 years).

OUTCOME MEASURES: Resolution of symptoms, body mass index, laboratory testing (haemoglobin, anti-transglutaminase IgA), adherence to a GFD, quality of life, and supplementary post-diagnosis medical consultations.

RESULTS: 51 out of 468 (11\%) patients were diagnosed without a duodenal biopsy (group 1; median age 2.1 years) and matched to 92 patients diagnosed with a biopsy (group 2; median age 2.4 years). At the end of follow-up the two groups were statistically comparable in terms of clinical and nutritional status, anti-transglutaminase IgA antibody titres, quality of life, adherence to a GFD, and number of supplementary medical consultations.

CONCLUSIONS: On the basis of this prospective study, diagnosis of CD can be reliably performed without a duodenal biopsy in approximately 11\% of cases. At least during a medium-term follow-up, this approach has no negative consequences relating to clinical remission, adherence to diet, and quality of life of children with CD.

}, issn = {1468-2044}, doi = {10.1136/archdischild-2015-309259}, author = {Benelli, Elisa and Carrato, Valentina and Martelossi, Stefano and Ronfani, Luca and Not, Tarcisio and Ventura, Alessandro} } @article {7776, title = {Legius syndrome: case report and review of literature.}, journal = {Ital J Pediatr}, volume = {41}, year = {2015}, month = {2015}, pages = {8}, abstract = {

A 8-month-old child was referred to our Dermatologic Unit for suspected Neurofibromatosis type 1 (NF 1), because of the appearance, since few days after birth, of numerous caf{\'e}-au-lait spots (seven larger than 5 mm); no other sign evocative of NF 1 was found. Her family history was remarkable for the presence of multiple caf{\'e}-au-lait spots in the mother, the grandfather and two aunts. The family had been already examined for NF 1, but no sign evocative of the disease was found. We then suspected Legius syndrome, a dominant disease characterized by a mild neurofibromatosis 1 phenotype. The diagnosis was confirmed by the finding of a mutation in SPRED1 gene, a feedback regulator of RAS/MAPK signaling. Here, we discuss the differential diagnosis of caf{\`e}-au-lait spots and we briefly review the existing literature about Legius syndrome.

}, issn = {1824-7288}, doi = {10.1186/s13052-015-0115-9}, author = {Benelli, Elisa and Bruno, Irene and Belcaro, Chiara and Ventura, Alessandro and Berti, Irene} } @article {7778, title = {A Shining Scrotal Fountain.}, journal = {J Pediatr}, volume = {167}, year = {2015}, month = {2015 Jul}, pages = {205.e1}, keywords = {Child, Edema, Humans, Male, Penile Diseases, Scrotum}, issn = {1097-6833}, doi = {10.1016/j.jpeds.2015.04.011}, author = {Copertino, Marco and Benelli, Elisa and Gregori, Massimo and Barbi, Egidio and Ventura, Alessandro} }