A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?

EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.

To date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed. This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. We retrospectively analysed oral-motor features of 16 patients with molecularly confirmed CS (age range 4-21 years old; mean 11 years; SD 6 years; median 10 years). Nearly 100% of CS new-borns had weak sucking at birth, and half of them demonstrated poor coordination between breathing and swallowing. Over time, the percentages of children with tube feeding dependence (60% at birth) faced a slow but steady decrease (from 33% at 6 months, 25% at 12 months, to 13% at school age) in tandem with the decreasing risk of aspiration. The ability of eating foods requiring chewing was achieved at school age, after the acquisition of an adequate oral sensory processing. A mature chewing pattern with a variety of food textures was not achieved by more than half of patients, including those requiring artificial enteral nutrition. Most patients started prolonged oral-motor treatments with speech language therapists in early childhood. CONCLUSIONS: Although feeding and swallowing disorders are constant features in CS patients, a slow and gradual development of feeding abilities occurs in most cases. Rehabilitation plays a key role in overcoming structural and functional difficulties and attaining appropriate eating skills. WHAT IS KNOWN: • Feeding problems and swallowing dysfunction have been noted in CHARGE syndrome. • The involvement of multiple factors, including structural problems in the mouth, throat, or esophagus, and neurological impairment, make feeding a complicated task in CHARGE individuals. WHAT IS NEW: • Dysphagia gradually improves in most CHARGE children over time, though with a wide interindividual variability. • The percentages of children with tube feeding dependence decrease over time from 60% at birth to 33% at 6 months and 13% at school age.

Drooling outcome measures in paediatric disability: a systematic review.

Drooling, or sialorrhea, is a common condition in patients with cerebral palsy, rare diseases, and neurodevelopmental disorders. The goal of this review was to identify the different properties of sialorrhea outcome measures in children. Four databases were analysed in search of sialorrhea measurement tools, and the review was performed according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement. The COnsensus-based Standards for the selection of health status Measurement INstruments (COSMIN) checklist was used for quality appraisal of the outcome measures. The initial search yielded 891 articles, 430 of which were duplicates. Thus, 461 full-text articles were evaluated. Among these, 21 met the inclusion criteria, reporting 19 different outcome measures that encompassed both quantitative measures and parent/proxy questionnaires.   Conclusions: Among the outcome measures found through this review, the 5-min Drooling Quotient can objectively discriminate sialorrhea frequency in patients with developmental disabilities. The Drooling Impact Scale can be used to evaluate changes after treatment. The modified drooling questionnaire can measure sialorrhea severity and its social acceptability. To date, the tests proposed in this review are the only tools displaying adequate measurement properties. The acquisition of new data about reliability, validity, and responsiveness of these tests will confirm our findings. What is Known: • Although sialorrhea is a recognized problem in children with disabilities, especially those with cerebral palsy (CP), there is a lack of confidence among physicians in measuring sialorrhea. What is New: • Few sialorrhea measures are available for clinicians that may guide decision-making and at the same time have strong evidence to provide confidence in the results. • A combination of both quantitative measures and parent/proxy questionnaires might provide an adequate measurement of sialorrhea in children.

Life-threatening complications of streptococcal sepsis: a PICU contemporary series.

BACKGROUND: Life-threatening streptococcal sepsis nowadays represents an uncommon event in previously healthy infants and children. Critically ill patients suffering from severe streptococcal sepsis complications may present with pre-antibiotic era clinical pictures and require a timely clinical approach to achieve restitutio ad integrum. RESULTS: We report a series of four patient groups affected by an uncommon life-threatening streptococcal sepsis, each of them exhibiting some distinct features. Streptococcus Agalactiae sepsis was associated with cerebral thrombotic/ischaemic lesions, whereas severe cardiogenic shock was prominent in the Streptococcus Viridans group; Streptococcus Faecalis and ß-hemolytic group A Streptococcus patients mostly reported lung complications. CONCLUSIONS: Previous antibiotic treatments should not delay aggressive treatment in the intensive care setting. Early diagnostic suspicion, as well as appropriate and aggressive treatment provided within an intensive care setting are crucial for the clinical outcome.

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

BACKGROUND: Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure. Significant associations with alcohol exposure were already reported with congenital structural heart defects: i.e. ventricular septal defects, atrial septal defects, conotruncal defects. CASES PRESENTATION: We describe two cases of children with FASD, both admitted to the Center for Rare Diseases and Birth Defects of Policlinico Universitario Agostino Gemelli, in whom asymptomatic cardiac rhythm alterations were detected in absence of structural cardiovascular system anomalies or cardiac channelopathies. CONCLUSIONS: No other reports about cardiac rhythm anomalies in individuals affected by FASD are actually available from the literature. We would like to make an alert for clinician, given the possibility of finding anomalies of heart conduction and rhythm in children affected by FASD even without structural congenital heart disease.

Prevalence of adverse reactions following a passed oral food challenge and factors affecting successful re-introduction of foods. A retrospective study of a cohort of 199 children

BACKGROUND: After a passed oral food challenge (OFC), regular and normal food consumption is attended. The main objective of this study is to assess the safety of tested food dietary re-introduction after a passed OFC. PATIENTS AND METHODS: In 2014, a telephone survey was submitted to patients who passed OFC and those who failed it only presenting with contact urticaria (we consider these OFC as passed), between 2009 and 2013. Questionnaire items included demographic data, food allergy details, food consumption after the OFC was performed, recurring symptoms and life style changes. RESULTS: 249 OFC questionnaires were collected from 199 children, 228 OFC were passed, 21 were failed exclusively due to contact urticaria. The most tested food was cows' milk. In 71% of cases target food was re-introduced in patients diet in normal amounts. We found children >2 years introduced less frequently tested food than infants. In 2% of cases adverse reactions to offending food were reported, but severe reactions never occurred. DISCUSSION: The majority of children of this study ate target food regularly and their family's quality of life improved. In our study, adverse reactions frequency in patients who passed OFC was very low and never serious. We highlight the importance of re-assessing proper food consumption in every patient who passed OFC

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Prevalence of adverse reactions following a passed oral food challenge and factors affecting successful re-introduction of foods. A retrospective study of a cohort of 199 children.

BACKGROUND: After a passed oral food challenge (OFC), regular and normal food consumption is attended. The main objective of this study is to assess the safety of tested food dietary re-introduction after a passed OFC. PATIENTS AND METHODS: In 2014, a telephone survey was submitted to patients who passed OFC and those who failed it only presenting with contact urticaria (we consider these OFC as passed), between 2009 and 2013. Questionnaire items included demographic data, food allergy details, food consumption after the OFC was performed, recurring symptoms and life style changes. RESULTS: 249 OFC questionnaires were collected from 199 children, 228 OFC were passed, 21 were failed exclusively due to contact urticaria. The most tested food was cows' milk. In 71% of cases target food was re-introduced in patients diet in normal amounts. We found children >2 years introduced less frequently tested food than infants. In 2% of cases adverse reactions to offending food were reported, but severe reactions never occurred. DISCUSSION: The majority of children of this study ate target food regularly and their family's quality of life improved. In our study, adverse reactions frequency in patients who passed OFC was very low and never serious. We highlight the importance of re-assessing proper food consumption in every patient who passed OFC.

Risk of adverse IgE-mediate reaction at the first egg ingestion in children with atopic dermatitis. Results of a case-control study

BACKGROUND: Studies have reported that children with atopic dermatitis (AD) have a high risk of adverse reactions at first egg ingestion. METHODS: We enrolled 79 children with AD retrospectively and 45 children without AD (control group) prospectively, who had never eaten egg. All children underwent skin prick tests (SPT) with commercial extracts and prick by prick with natural food (raw and boiled egg). Oral food challenge (OFC) was performed in SPT positive patients. RESULTS: Sixty-six percent (52/79) of AD group and 11% (5/45) of Control group had at least one positive SPT (p < 0.001), Relative Risk (RR) = 5.9 and Odds Ratio = 15.4. Of the 46/52 sensitised children in the AD group, 36 children ate egg for the first time in hospital during an OFC and 10 children ate egg at home because of their parents' choice, with 19/46 (41%) resulting in allergic reactions to raw and/or boiled egg. Four/five sensitised children in the control group underwent OFC and three of them (75%) showed an allergic reaction to raw, but not boiled egg. Thirty percent (14/46) of AD group had a systemic reaction vs. 25% (1/4) of Control group. CONCLUSION: A child with AD has a RR of sensitisation to egg six times higher than a child without AD, before the first known ingestion. We propose to test sensitisation to egg in every child with AD who has never eaten egg, and to perform OFC in those with positive SPT in hospital setting

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Risk of adverse IgE-mediate reaction at the first egg ingestion in children with atopic dermatitis. Results of a case-control study.

BACKGROUND: Studies have reported that children with atopic dermatitis (AD) have a high risk of adverse reactions at first egg ingestion. METHODS: We enrolled 79 children with AD retrospectively and 45 children without AD (control group) prospectively, who had never eaten egg. All children underwent skin prick tests (SPT) with commercial extracts and prick by prick with natural food (raw and boiled egg). Oral food challenge (OFC) was performed in SPT positive patients. RESULTS: Sixty-six percent (52/79) of AD group and 11% (5/45) of Control group had at least one positive SPT (p<0.001), Relative Risk (RR)=5.9 and Odds Ratio=15.4. Of the 46/52 sensitised children in the AD group, 36 children ate egg for the first time in hospital during an OFC and 10 children ate egg at home because of their parents' choice, with 19/46 (41%) resulting in allergic reactions to raw and/or boiled egg. Four/five sensitised children in the control group underwent OFC and three of them (75%) showed an allergic reaction to raw, but not boiled egg. Thirty percent (14/46) of AD group had a systemic reaction vs. 25% (1/4) of Control group. CONCLUSION: A child with AD has a RR of sensitisation to egg six times higher than a child without AD, before the first known ingestion. We propose to test sensitisation to egg in every child with AD who has never eaten egg, and to perform OFC in those with positive SPT in hospital setting.

Food-dependent exercise-induced anaphylaxis (FDEIA) by nectarine in a paediatric patient with weakly positive nectarine prick-by-prick and negative specific IgE to Pru p 3

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An unusual case of neonatal cholestasis.

Septo-optic dysplasia (SOD), otherwise called De Morsier syndrome, is a developmental anomaly of mid-line brain structures and includes optic nerve hypoplasia, absence of the septum pellucidum and hypothalamo-pituitary abnormalities). In literature an association between optic nerve hypoplasia and neonatal cholestasis is described. We report the case of a female infant with persistent cholestasis, low weight gain and onset of nystagmus that appeared at one month and a half of life. Ophthalmology evaluation showed left optic nerve hypoplasia. MRI scan of the brain demonstrated a thin left optic nerve, an ectoptic posterior pituitary gland, no visible infundibulum and lack of septum pellucidum. Endocrinological investigation showed GH and ACTH deficiency. We discuss about diagnosis and pathogenesis of De Morsier syndrome with a brief review of the literature.

Predictive value ofMP4 (Milk Prick Four), a panel of skin prick test for the diagnosis of pediatric immediate cow's milk allergy.

Background. Oral food challenge (OFC) is the gold standard for the diagnosis of food allergy (FA), but it is risky, expensive and time-consuming. Many studies aimed to avoid OFC by finding a cut off (CO) of skin prick test (SPT) to predict a positive outcome of OFC. Unfortunately the results of these studies are poorly reproducible for various reasons, including the absence of known protein concentration in the extracts. It has also been documented that some doctors mistakenly attributed some symptom/disease, for example recurrent respiratory infections of the upper airways, to the FA, expecially cow milk allergy (CMA). These doctors often performed SPT in their studies to confirm, if the result was positive, their diagnostic suspicion and prescribe an elimination diet without seeking the advice of allergy specialist (AS) and without making an OFC. Objective. To test the diagnostic performances of SPT with fresh cow's milk and commercial extracts of casein, beta-lactoglobulin, alpha-lactoalbumin at known protein concentrations (Milk Prick Four [MP4] test). To look for 2 clusters of SPT CO with positive predictive value (PPV) > 95%, one for AS, one for general practitioner (GP). Methods. A prospective study was carried out on 191 children referred by their GP to the allergy center for suspected immediate-type CMA (iCMA). Based on the history, the allergist has divided the children into two groups: a) group A, children with suspected (subgroup A1, 55 children) or known (subgroup A2, 27 children) diagnosis of iCMA; b) group B, 109 children with a clinical history incompatible with iCMA suspicion according to the AS (in this case the GP was wrong to send those patients to the allergy center). SPT with MP4 test was performed on all patients, and OFC was performed on all patients of group A. CO with PPV > 95% was calculated separately for the entire population of 191 children (CO for GP) and for the only group A (CO for AS). Results. Fresh cow's milk SPT was the most sensitive single prick test (sensitivity [SE] 94%, negative predictive value [NPV] 98%). The positivity to any of 3 SPT extracts (performed at the same time) had the same SE and NPV of the single fresh cow's milk SPT. Moreover, fresh cow's milk SPT or any of 3 SPT extract had 100% SE and 100% NPV, having excluded 2 children with Food Protein Induced Enterocolitis Syndorme from data analysis. MP4 CO for GP allow a total savings of 4% of OFC, a percentage that rises to 22% in the subgroup A2, and does not give false positives. MP4 CO for AS allow a total saving of 33% of OFC, rising to 67% in the subgroup A2, but they give a 7/82 false positives in group A. SPT CO of alpha-lactoalbumin had the best performance in both settings. Conclusion. MP4 is a safe and cheap test, easy to perform. All doctors may be confident in excluding iCMA if fresh cow's milk SPT is negative. GP could perform SPT to fresh milk at his own clinic, and safely diagnose iCMA by using our CO for GP, although this may happen only in a few cases. MP4 test performed by AS can help save a greater number of OFC, especially among children with known diagnosis of iCMA.

A multicentre retrospective study of 66 Italian children with food protein-induced enterocolitis syndrome: different management for different phenotypes.

BACKGROUND: Food Protein-Induced Enterocolitis Syndrome (FPIES) is a non-IgE-mediated paediatric disorder triggered by the ingestion of specific food proteins. Many features of this syndrome are not yet well defined. OBJECTIVE: The aim of our study was to describe demographic features, causative agents, clinical features, treatments and outcomes of children suffering from acute FPIES at three Italian of Pediatric Allergology Centers. METHODS: A retrospective study was performed over a 7-year period (2004-2010). Hospital medical record databases and hospital outpatient electronic charts were screened for the diagnosis of FPIES. Information on the first and subsequent FPIES' episodes was collected. RESULTS: We diagnosed 66 children with FPIES. The number of diagnoses significantly increased between 2008 and 2010 (P < 0.001). We collected a total of 165 FPIES episodes (median per child 2, range 1-10). Cow's milk was the most common trigger food (65%), followed by fish, egg, rice, soy, corn, poultry and goat's milk. Fifty-six (85%) children reacted to a single food. Mean documented time from ingestion to symptom onset was 2.4 h (SD 0.7 h). Vomiting was the most common symptom (98%). Among patients diagnosed with OFC, 78% reacted after eating a whole serving size of the trigger food per age. Skin prick tests (SPT) for trigger foods were negative in 97% of cases. Thirty-two/66 children (48%) achieved tolerance at a mean age of 29 months (SD 17 months). Age of achieved tolerance for cow's milk was significantly lower compared to that of other foods (24 ± 8 vs. 53 ± 17 months, P < 0.0006). CONCLUSION AND CLINICAL RELEVANCE: This article provides new insights on FPIES in Italy by describing its largest series, and shows how a significant increase in the FPIES diagnosis has been observed in the last few years. We also discussed selected management aspects of this syndrome where different phenotypes can be found.

Brain CT scan for pediatric minor accidental head injury. An Italian experience and review of literature.

PURPOSE: Every year 300,000 children with accidental head trauma are admitted to Italian emergency departments. Our aims were: (1) to describe patients with minor traumatic brain injury who were admitted to pediatric departments and underwent CT, and (2) to analyze the appropriateness of management according to current guidelines. METHODS: We retrospectively analyzed patients with minor head injury (median age 4.5 years, range 1 month to 16 years) who were admitted to the pediatric department of the Catholic Medical School of Rome, from January 2005 to September 2010, who performed head CT. Univariate analysis was performed using the Fisher's exact test. Multivariate analysis was performed by logistic regression. RESULTS: One hundred and seventy-four patients were enrolled in the study. Fifty-four patients (31%) had pathological CT findings. Eight patients underwent neurosurgical treatments. Vomiting was the only symptom significantly prevalent in the infant group, compared to the children group (10.7% vs. 38.9%, p = 0.007), while loss of consciousness in the children group (50.0% vs. 25.0%, p = 0.040). The relationship between scalp swelling and CT abnormalities was statistically significant in the entire population. The incidence of head abnormalities was significantly higher in children with abnormal CT (92.6% vs. 72.5%). CONCLUSIONS: The best way to manage children with minor head trauma is still matter of debate. Loss of consciousness and scalp swelling are risk factors predicting brain injury that deserve CT control. The radiation risks posed by CT scanning in children must be balanced by the benefits. We believe that even though CT scans may be clinically unnecessary in many cases, the rate of scanning is justified by the even limited number of abnormalities which require neurosurgical treatment.

Efficacy of over-the-counter immunostimulants in the prevention of paediatric recurrent acute respiratory tract infections. Criticisms and pitfalls of available metanalyses.

UNLABELLED: Preschool children frequently suffer from acute respiratory tract infections (ARTI). Immunostimulants (ISs) are often administered to reduce their impact. This study aimed to establish the efficacy of ISs in the prevention of pediatric ARTI through the analysis of systematic reviews (SRs). We explored Medline database in October 2010 limiting our search to SRs, that included studies on the effectiveness of ISs in the prevention of pediatric ARTI. Six SRs with meta analysis (MA) were found. The studies included showed a low methodological quality and a high statistical heterogeneity. All papers published on journals with impact factor > 1 and a Jadad score > 3 reviewed the efficacy of OM-85. The number needed to treat (NNT) was between 2 and 11, depending on the setting. CONCLUSIONS: Pediatric ARTI are a social and health care problem. When they impair the quality of life of the family a course of OM-85 might be warranted. Although scientific knowledge of clinicians may be improved by SRs, MA and aggregation of results may not always be the best way to accomplish this.

Can food protein induced enterocolitis syndrome shift to immediate gastrointestinal hypersensitivity? A report of two cases.

Food protein induced enterocolitis syndrome (FPIES) is a food-related non-IgE-mediated gastrointestinal hypersensitivity disorder. Atypical FPIES is characterized by the presence of specific IgE for the causative food. The guidelines suggested for diagnostic oral food challenge in pediatric patients affected by suspected FPIES are different from the ones for children with IgE-mediated food allergy. We describe two cases of atypical FPIES that turned into IgE-mediated gastrointestinal anaphylaxis. Our experience suggests to adapt OFC according to the outcome of specific IgE for the causative food When causative food-related IgE werepositive, we suggest to follow the guidelines for IgE mediated food allergy.

Measles-induced respiratory distress, air-leak and ARDS.

Young infants with measles requiring respiratory support have a significant risk for death and long-term complications. Even in developed countries, the occurrence of spontaneous air-leaks and acute respiratory distress syndrome (ARDS) still represent the most severe clinical presentation in early childhood, with a high fatality rate. A clinical series review from a tertiary university paediatric intensive care unit (PICU) was undertaken. During the 2006-2007 outbreak in Rome, Italy, a young infant presented with ARDS/spontaneous air-leak and needed aggressive ventilatory management and haemodynamic support. Both nebulised iloprost and intravenous pentoxifylline were administered during the acute hypoxaemic phase; the role of this pharmacologic approach in critically ill patients is still under debate. We observed four further cases of respiratory impairment requiring a non-invasive approach. Clinical-radiological findings ranged from interstitial pneumonia to bronchiolitis-like pictures. All patients were imported cases, representing an important epidemiological factor and future medical issue, though they were not malnourished nor affected by chronic diseases. We conclude that early respiratory assessment and timely PICU referral is of mainstem importance in the youngest infants with measles-induced respiratory failure. The protean nature of clinical presentation and the possibility of rapid respiratory deterioration should be highlighted, and infants from immigrant families may represent a susceptible high-risk group.