Physicians' perceptions about managing enteral nutrition and the implementation of tools to assist in nutritional decision-making in a paediatric intensive care unit.

BACKGROUND: For critically ill children hospitalised in paediatric intensive care units, adequate nutrition reduces their risk of morbidity and mortality. Barriers may impede optimal nutritional support in this population. Moreover, physicians are usually responsible for prescribing nutrition, although they are not experts. Therefore, tools may be used to assist in nutritional decision-making, such as nutrition protocols. OBJECTIVES: The objective of this two-stage qualitative study was to explore the perceptions of physicians about their management of enteral nutrition in a paediatric intensive care unit and the implementation of a nutrition protocol and computerised system. METHODS: This study involved semistructured interviews with physicians at the Paediatric Intensive Care Unit of Lausanne University Hospital, Switzerland. Research dietitians conducted interviews before (stage one) and after (stage two) the implementation of a nutrition protocol and computerised system. During stage one, six junior physicians and five fellows were interviewed. At stage two, 12 junior physicians, 12 fellows, and five senior physicians were interviewed. Interviews were recorded, with data transcribed verbatim before a thematic analysis using a framework method. RESULTS: Three themes emerged from thematic analysis: "nutritional knowledge", "nutritional practices", and "resources to manage nutrition". During stage one, physicians, especially junior physicians, reported a lack of nutritional knowledge for critically ill children and stated that nutritional issues primarily depended on senior physicians, who themselves had various practices. All physicians were in favour of a nutrition protocol and computerised system. At stage two, interviewees stated that they used both tools regularly. They reported improved nutritional knowledge, more systematic and consistent nutritional practices, and increased attention to nutrition. CONCLUSIONS: The implementation of a nutrition protocol and computerised system by a multiprofessional team helped physicians in the paediatric intensive care unit to manage nutritional support and increase their attention to nutrition.

Nutritional management of young infants presenting with acute bronchiolitis in Belgium, France and Switzerland: survey of current practices and documentary search of national guidelines worldwide.

Feeding difficulties are common in young infants presenting with acute bronchiolitis, but limited data is available to guide clinicians adapting nutritional management. We aimed to assess paediatricians' nutritional practices among Western Europe French speaking countries. A survey was disseminated to describe advice given to parents for at home nutritional support, in hospital nutritional management, and preferred methods for enteral nutrition and for intravenous fluid management. A documentary search of international guidelines was concomitantly conducted. Ninety-three (66%) contacted physicians responded. Feeding difficulties were a common indication for infants' admission. Written protocols were rarely available. Enteral nutrition was favoured most of the time when oral nutrition was insufficient and might be withheld in case of severe dyspnoea to decrease respiratory workload. Half of physicians were aware of hyponatremia risk and pathophysiology, and isotonic intravenous solutions were used in less than 15% of centres. International guideline search (23 countries) showed a lack of detailed nutritional management recommendations in most of them.Conclusion: practices were inconsistent among physicians. Guidelines detailed nutritional management poorly. Awareness of hyponatremia risk in relation to intravenous hypotonic fluids and of the safety of enteral hydration and nutrition is insufficient. New guidelines including detailed nutritional management recommendations are urgently needed. What is Known? • Infants presenting with acute bronchiolitis face feeding difficulties. • Underfeeding may promote undernutrition, and intravenous hydration with hypotonic fluids may induce hyponatremia. What is New? • Physicians' nutritional practices are inconsistent and awareness of hyponatremia risk and pathophysiology is insufficient among physicians. • Awareness of hyponatremia risk and pathophysiology is insufficient among physicians. • The reasons for enteral nutrition withholding in bronchiolitis infants are not evidence based, and national guidelines of acute bronchiolitis across the world are elusive regarding nutritional management. • National guidelines of acute bronchiolitis across the world are elusive regarding nutritional management.

Estimation of Resting Energy Expenditure Using Predictive Equations in Critically Ill Children: Results of a Systematic Review.

Provision of adequate energy intake to critically ill children is associated with improved prognosis, but resting energy expenditure (REE) is rarely determined by indirect calorimetry (IC) due to practical constraints. Some studies have tested the validity of various predictive equations that are routinely used for this purpose, but no systematic evaluation has been made. Therefore, we performed a systematic review of the literature to assess predictive equations of REE in critically ill children. We systematically searched the literature for eligible studies, and then we extracted data and assigned a quality grade to each article according to guidelines of the Academy of Nutrition and Dietetics. Accuracy was defined as the percentage of predicted REE values to fall within ±10% or ±15% of the measured energy expenditure (MEE) values, computed based on individual participant data. Of the 993 identified studies, 22 studies testing 21 equations using 2326 IC measurements in 1102 children were included in this review. Only 6 equations were evaluated by at least 3 studies in critically ill children. No equation predicted REE within ±10% of MEE in >50% of observations. The Harris-Benedict equation overestimated REE in two-thirds of patients, whereas the Schofield equations and Talbot tables predicted REE within ±15% of MEE in approximately 50% of observations. In summary, the Schofield equations and Talbot tables were the least inaccurate of the predictive equations. We conclude that a new validated indirect calorimeter is urgently needed in the critically ill pediatric population.).

Age is not a good predictor of irreversibility of pulmonary hypertension in congenital cardiac malformations with left-to-right shunt.

OBJECTIVE: Congenital cardiac malformations with high pulmonary blood flow and pressure due to left-to-right shunts are usually repaired in early infancy for both the benefits of early relief of heart failure and the fear that the concomitant pulmonary hypertension may become irreversible unless these defects are corrected at an early age. Age, however, has been a poor predictor of irreversibility of pulmonary hypertension in our experience, which is presented here. DESIGN: A retrospective observational study. We defined "late" as age ≥2 years. We examined clinical, echocardiographic, and hemodynamic data from all patients aged ≥2 years with such malformations referred to us from 2004 untill 2015. SETTING: Department of Pediatric Cardiology and Cardiac Surgery, University Hospital of Vaud, Lausanne, Switzerland. PATIENTS: There were 39 patients, aged 2-35 years (median: 5 years), without chromosomal abnormalities. All had malformations amenable to biventricular repair, and all had high systolic right ventricular pressures by echocardiography prior to referral. INTERVENTIONS: All patients underwent catheterization for assessment of pulmonary hypertension. If this was reversible, surgical correction was offered. OUTCOME MEASURES: (1) Operability based on reversibility of pulmonary hypertension. (2) When surgery was offered, mortality and evidence of persisting postoperative pulmonary hypertension were examined. RESULTS: Eighteen patients had no pulmonary hypertension, 5 of variable ages were inoperable due to irreversible pulmonary hypertension, and 16 had reversible pulmonary hypertension. Therefore, 34 patients underwent corrective surgery, with no immediate or late mortality. Pulmonary arterial and right ventricular pressures decreased noticeably in all operated patients. This is sustained to date; they are all asymptomatic with no echocardiographic evidence of pulmonary hypertension at a median follow-up of 7 years (range 2-13 years). CONCLUSIONS: Pulmonary hypertension may still be reversible in many surprisingly old patients with left-to-right shunt lesions, who may therefore still be operable.

Use of Levosimendan in Postoperative Setting After Surgical Repair of Congenital Heart Disease in Children.

Low cardiac output is one of the most common complications after cardiac surgery. Levosimendan, a new inotrope agent, has been demonstrated in adult patient to be an effective treatment for this purpose when classical therapy is not effective. The aim of this study was to evaluate the effect of Levosimendan on cardiac output parameters in cardiac children with low cardiac output syndrome (LCOS.). We carried out a retrospective analysis on 62 children hospitalized in our pediatric intensive care unit (PICU) after cardiac surgery, which demonstrated LCOS not responding to classical catecholamine therapy and who received levosimendan as rescue therapy. LCOS parameters like diuresis, central venous oxygen saturation (SvO2), venous-to-arterial CO2 difference (∆avCO2), and plasmatic lactate were compared before therapy and at 3, 6, 12, and 24 h after the beginning of the levosimendan infusion. We also analyzed the effect on the Vasoactive-inotropic score (VIS), adverse events, and mortality. After the beginning of levosimendan infusion, diuresis (1.1 vs. 3.5 ml/kg/h, p = 0.001) and SvO2 (59.5 vs. 63.3%, p = 0.026) increased significantly during the 24 h of infusion, and at the same time, plasmatic lactate (2.3 vs. 1.3 mmol/l, p < 0.001) decreased. ∆avCO2 (10.8 vs. 9.4 mmHg, p = 0.21) and the VIS (44.5 vs. 22.5, p = 0.143) also decreased, but not significantly. No side effects were noted. The mortality in this patient group was 16%. Levosimendan is an effective treatment in children presenting LCOS after congenital heart surgery. Our study confirms the improvement of cardiac output already shown in other pediatric studies, with no undesirable side effects.

Improvement in perioperative care in pediatric cardiac surgery by shifting the primary focus of treatment from cardiac output to perfusion pressure: Are beta stimulants still needed?

OBJECTIVE: An important aspect of perioperative care in pediatric cardiac surgery is maintenance of optimal hemodynamic status using vasoactive/inotropic agents. Conventionally, this has focused on maintenance of cardiac output rather than perfusion pressure. However, this approach has been abandoned in our center in favor of one focusing primarily on perfusion pressure, which is presented here and compared to the conventional approach. DESIGN: A retrospective study. SETTING: Regional center for congenital heart disease. University Hospital of Lausanne, Switzerland. PATIENTS: All patients with Aristotle risk score ≥8 that underwent surgery from 1996 to 2012 were included. Patients operated between 1996 and 2005 (Group 1: 206 patients) were treated according to the conventional approach. Patients operated between 2006 and 2012 (Group 2: 217 patients) were treated according to our new approach. INTERVENTIONS: All patients had undergone surgery for correction or palliation of congenital cardiac defects. OUTCOME MEASUREMENTS: Mortality, duration of ventilation and inotropic treatment, use of ECMO, and complications of poor peripheral perfusion (need for hemofiltration, laparotomy for enterocolitis, amputation). RESULTS: The two groups were similar in age and complexity. Mortality was lower in group 2 (7.3% in group 1 vs 1.4% in group 2, P < .005). Ventilation times (hours) and number of days on inotropic/vasoactive treatment (all agents), expressed as median and interquartile range [Q1-Q3] were shorter in group 2: 69 [24-163] hours in group 1 vs 35 [22-120] hours in group 2 (P < .01) for ventilation, and 9 [3-5] days in group 1 vs 7 [2-5] days in group 2 (P < .05) for inotropic/vasoactive agents. There were no differences in ECMO usage or complications of peripheral perfusion. CONCLUSIONS: Results in pediatric cardiac surgery may be improved by shifting the primary focus of perioperative care from cardiac output to perfusion pressure.

Performance of Predictive Equations Specifically Developed to Estimate Resting Energy Expenditure in Ventilated Critically Ill Children.

OBJECTIVE: To determine, based on indirect calorimetry measurements, the biases of predictive equations specifically developed recently for estimating resting energy expenditure (REE) in ventilated critically ill children, or developed for healthy populations but used in critically ill children. STUDY DESIGN: A secondary analysis study was performed using our data on REE measured in a previous prospective study on protein and energy needs in pediatric intensive care unit. We included 75 ventilated critically ill children (median age, 21 months) in whom 407 indirect calorimetry measurements were performed. Fifteen predictive equations were used to estimate REE: the equations of White, Meyer, Mehta, Schofield, Henry, the World Health Organization, Fleisch, and Harris-Benedict and the tables of Talbot. Their differential and proportional biases (with 95% CIs) were computed and the bias plotted in graphs. The Bland-Altman method was also used. RESULTS: Most equations underestimated and overestimated REE between 200 and 1000 kcal/day. The equations of Mehta, Schofield, and Henry and the tables of Talbot had a bias ≤10%, but the 95% CI was large and contained values by far beyond ±10% for low REE values. Other specific equations for critically ill children had even wider biases. CONCLUSIONS: In ventilated critically ill children, none of the predictive equations tested met the performance criteria for the entire range of REE between 200 and 1000 kcal/day. Even the equations with the smallest bias may entail a risk of underfeeding or overfeeding, especially in the youngest children. Indirect calorimetry measurement must be preferred.

Measurement of parent satisfaction in the paediatric intensive care unit - Translation, cultural adaptation and psychometric equivalence for the French-speaking version of the EMPATHIC-65 questionnaire.

INTRODUCTION: Within paediatric intensive care units (PICUs), only a few parent satisfaction instruments are validated and none are available for French-speaking parents. The aims of the study were to translate and culturally adapt the Dutch EMPATHIC-65 questionnaire into a French version and to test its psychometric equivalence. METHODS: Two French-speaking PICUs in Switzerland and France participated. The questionnaire was translated using a standardised method and parents with PICU experience were interviewed to assess clarity of the translated version. Secondly, parents of children hospitalised for at least 24 hours and who were fluent in French, were invited to complete the French translated version of the EMPATHIC-65 questionnaire. Reliability and validity measures were used to examine its psychometric equivalence. RESULTS: The overall mean clarity agreement reached 90.2% by 17 French-speaking parents. Eight unclear items have subsequently been reworded. One hundred seventy-two parents completed the French version questionnaire. Reliability and convergent validity have been confirmed by an adequate internal consistency (0.59-0.89) and convergent validity (rs 0.25-0.63, p<0.01). CONCLUSION: Psychometric equivalence of the French EMPATHIC-65 questionnaire highlights the appropriateness of relying on available valid instrument to expand the availability of health instrument measure in French.

How much protein and energy are needed to equilibrate nitrogen and energy balances in ventilated critically ill children?

BACKGROUND & AIMS: Protein and energy requirements in critically ill children are currently based on insufficient data. Moreover, longitudinal measurements of both total urinary nitrogen (TUN) and resting energy expenditure (REE) are lacking. The aim of this study was to investigate how much protein and energy are needed to equilibrate nitrogen and energy balances in ventilated critically ill children on the basis of daily measurements of TUN, REE and protein and energy intakes. Comparisons were made with the guidelines of the American Society for Parenteral and Enteral Nutrition and the Dietary Reference Intakes. METHODS: Children with an expected duration of mechanical ventilation ≥72 h were prospectively recruited. TUN was measured by chemiluminescence, and REE was measured by indirect calorimetry. Generalised linear models for longitudinal data were used to study the relation between protein intake and nitrogen balance and to calculate the minimum intake of protein needed to achieve nitrogen equilibrium. A similar approach was used for energy. Results were compared to the recommended values. RESULTS: Based on 402 measurements performed in 74 children (median age: 21 months), the mean TUN was high at 0.20 (95% CI: 0.20, 0.22) g/kg/d and the REE was 55 (95% CI: 54, 57) kcal/kg/d. Nitrogen and energy balances were achieved with 1.5 (95% CI: 1.4, 1.6) g/kg/d of protein and 58 (95% CI: 53, 63) kcal/kg/d for the entire group, but there were differences among children of different ages. Children required more protein and less energy than the Dietary Reference Intakes. CONCLUSIONS: In critically ill children, TUN was elevated and REE was reduced during the entire period of mechanical ventilation. Minimum intakes of 1.5 g/kg/d of protein and 58 kcal/kg/d can equilibrate nitrogen and energy balances in children up to 4 years old. Older children require more protein.

Physicochemical aspects and efficiency of albuterol nebulization: comparison of three aerosol types in an in vitro pediatric model.

BACKGROUND: Advances in nebulizer design have produced both ultrasonic nebulizers and devices based on a vibrating mesh (vibrating mesh nebulizers), which are expected to enhance the efficiency of aerosol drug therapy. The aim of this study was to compare 4 different nebulizers, of 3 different types, in an in vitro model using albuterol delivery and physical characteristics as benchmarks. METHODS: The following nebulizers were tested: Sidestream Disposable jet nebulizer, Multisonic Infra Control ultrasonic nebulizer, and the Aerogen Pro and Aerogen Solo vibrating mesh nebulizers. Aerosol duration, temperature, and drug solution osmolality were measured during nebulization. Albuterol delivery was measured by a high-performance liquid chromatography system with fluorometric detection. The droplet size distribution was analyzed with a laser granulometer. RESULTS: The ultrasonic nebulizer was the fastest device based on the duration of nebulization; the jet nebulizer was the slowest. Solution temperature decreased during nebulization when the jet nebulizer and vibrating mesh nebulizers were used, but it increased with the ultrasonic nebulizer. Osmolality was stable during nebulization with the vibrating mesh nebulizers, but increased with the jet nebulizer and ultrasonic nebulizer, indicating solvent evaporation. Albuterol delivery was 1.6 and 2.3 times higher with the ultrasonic nebulizer and vibrating mesh nebulizers devices, respectively, than with the jet nebulizer. Particle size was significantly higher with the ultrasonic nebulizer. CONCLUSIONS: The in vitro model was effective for comparing nebulizer types, demonstrating important differences between nebulizer types. The new devices, both the ultrasonic nebulizers and vibrating mesh nebulizers, delivered more aerosolized drug than traditional jet nebulizers.

Persistent left superior vena cava in cardiac congenital surgery.

Persistent left superior vena cava (LSVC) is a relatively frequent finding in congenital cardiac malformation. The scope of the study was to analyze the timing of diagnosis of persistent LSVC, the timing of diagnosis of associated anomalies of the coronary sinus, and the global impact on morbidity and mortality of persistent LSVC in children with congenital heart disease after cardiac surgery. Retrospective analysis of a cohort of children after cardiac surgery on bypass for congenital heart disease. Three hundred seventy-one patients were included in the study, and their median age was 2.75 years (IQR 0.65-6.63). Forty-seven children had persistent LSVC (12.7 %), and persistent LSVC was identified on echocardiography before surgery in 39 patients (83 %). In three patients (6.4 %) with persistent LSVC, significant inflow obstruction of the left ventricle developed after surgery leading to low output syndrome or secondary pulmonary hypertension. In eight patients (17 %), persistent LSVC was associated with a partially or completely unroofed coronary sinus and in two cases (4 %) with coronary sinus ostial atresia. Duration of mechanical ventilation was significantly shorter in the control group (1.2 vs. 3.0 days, p = 0.04), whereas length of stay in intensive care did not differ. Mortality was also significantly lower in the control group (2.5 vs. 10.6 %, p = 0.004). The results of study show that persistent LSVC in association with congenital cardiac malformation increases the risk of mortality in children with cardiac surgery on cardiopulmonary bypass. Recognition of a persistent LSVC and its associated anomalies is mandatory to avoid complications during or after cardiac surgery.

Albuterol delivery in an in vitro pediatric ventilator lung model: comparison of jet, ultrasonic, and mesh nebulizers.

OBJECTIVE: To determine the influence of nebulizer types and nebulization modes on bronchodilator delivery in a mechanically ventilated pediatric lung model. DESIGN: In vitro, laboratory study. SETTING: Research laboratory of a university hospital. INTERVENTIONS: Using albuterol as a marker, three nebulizer types (jet nebulizer, ultrasonic nebulizer, and vibrating-mesh nebulizer) were tested in three nebulization modes in a nonhumidified bench model mimicking the ventilatory pattern of a 10-kg infant. The amounts of albuterol deposited on the inspiratory filters (inhaled drug) at the end of the endotracheal tube, on the expiratory filters, and remaining in the nebulizers or in the ventilator circuit were determined. Particle size distribution of the nebulizers was also measured. MEASUREMENTS AND MAIN RESULTS: The inhaled drug was 2.8% ± 0.5% for the jet nebulizer, 10.5% ± 2.3% for the ultrasonic nebulizer, and 5.4% ± 2.7% for the vibrating-mesh nebulizer in intermittent nebulization during the inspiratory phase (p < 0.01). The most efficient nebulizer was the vibrating-mesh nebulizer in continuous nebulization (13.3% ± 4.6%, p < 0.01). Depending on the nebulizers, a variable but important part of albuterol was observed as remaining in the nebulizers (jet and ultrasonic nebulizers), or being expired or lost in the ventilator circuit (all nebulizers). Only small particles (range 2.39-2.70 µm) reached the end of the endotracheal tube. CONCLUSIONS: Important differences between nebulizer types and nebulization modes were seen for albuterol deposition at the end of the endotracheal tube in an in vitro pediatric ventilator-lung model. New aerosol devices, such as ultrasonic and vibrating-mesh nebulizers, were more efficient than the jet nebulizer.

Invasive pneumococcal infection despite 7-valent conjugated vaccine.

Despite good cover with 7-valent vaccination, invasive pneumococcal infections may still be misdiagnosed and may lead to lifethreatening situations or death in young children. New serotypes are emerging and, therefore, clinicians must keep a high level of suspicion in young children regardless of their vaccination status. We report three cases of invasive pneumococcal infection due to new serotypes not covered by the 7-valent conjugated vaccine, two of which led children to death.

Respiratory distress in a one-month-old child suffering brachial plexus palsy.

This paper describes a one-month-old girl presenting with respiratory and growth failure due to diaphragmatic paralysis associated with left brachial plexus palsy after forceps delivery. Despite continuous positive pressure ventilation and nasogastric feeding, the situation did not improve and a laparoscopic diaphragmatic plication had to be performed. When dealing with a child born with brachial plexus palsy, one must think of this possible association and if necessary proceed to the complementary radiological examinations. The treatment must avoid complications like feeding difficulties and failure to thrive, respiratory infections or atelectasis. It includes intensive support and a good evaluation of the prognosis of the lesion to decide the best moment for a surgical therapy.

A highly sensitive LC-tandem MS assay for the measurement in plasma and in urine of salbutamol administered by nebulization during mechanical ventilation in healthy volunteers.

The new-generation nebulizers are commonly used for the administration of salbutamol in mechanically ventilated patients. The different modes of administration and new devices have not been compared. We developed a liquid chromatography-tandem mass spectrometry method for the determination of concentrations as low as 0.05 ng/mL of salbutamol, corresponding to the desired plasma concentration after inhalation. Salbutamol quantification was performed by reverse-phase HPLC. Analyte quantification was performed by electrospray ionization-triple quadrupole mass spectrometry using selected reaction monitoring detection ESI in the positive mode. The method was validated over concentrations ranging from 0.05 to 100 ng/mL in plasma and from 0.18 to 135 ng/mL in urine. The method is precise, with mean inter-day coefficient of variation (CV%) within 3.1-8.3% in plasma and 1.3-3.9% in urine, as well as accurate. The proposed method was found to reach the required sensitivity for the evaluation of different nebulizers as well as nebulization modes. The present assay was applied to examine whether salbutamol urine levels, normalized with the creatinine levels, correlated with the plasma concentrations. A suitable, convenient and noninvasive method of monitoring patients receiving salbutamol by mechanical ventilation could be implemented.

Mycoplasma hominis necrotizing pleuropneumonia in a previously healthy adolescent.

BACKGROUND: Mycoplasma hominis is a fastidious micro-organism causing systemic infections in the neonate and genital infections in the adult. It can also be the cause of serious extra-genital infections, mainly in immunosuppressed or predisposed subjects. CASE PRESENTATION: We describe a case of severe pneumonia and pericarditis due to Mycoplasma hominis in a previously healthy adolescent who did not respond to initial therapy. CONCLUSIONS: Mycoplasma hominis could be an underestimated cause of severe pneumonia in immunocompetent patients and should be particularly suspected in those not responding to standard therapy.

Daily estimation of the severity of multiple organ dysfunction syndrome in critically ill children.

BACKGROUND: Daily evaluation of multiple organ dysfunction syndrome has been performed in critically ill adults. We evaluated the clinical course of multiple organ dysfunction over time in critically ill children using the Pediatric Logistic Organ Dysfunction (PELOD) score and determined the optimal days for measuring scores. METHODS: We prospectively measured daily PELOD scores and calculated the change in scores over time for 1806 consecutive patients admitted to seven pediatric intensive care units (PICUs) between September 1998 and February 2000. To study the relationship between daily scores and mortality in the PICU, we evaluated changes in daily scores during the first four days; the mean rate of change in scores during the entire PICU stay between survivors and nonsurvivors; and Cox survival analyses using a change in PELOD score as a time-dependent covariate to determine the optimal days for measuring daily scores. RESULTS: The overall mortality among the 1806 patients was 6.4%. A high PELOD score (>or=20 points) on day 1 was associated with an odds ratio (OR) for death of 40.7 (95% confidence interval [CI] 20.3-81.4); a medium score (10-19 points) on day 1 was associated with an OR for death of 4.2 (95% CI 2.0-8.7). Mortality was 50% when a high score on day 1 increased on day 2. The course of daily PELOD scores differed between survivors and nonsurvivors. A set of seven days (days 1, 2, 5, 8, 12, 16 and 18) was identified as the optimal period for measurement of daily PELOD scores. INTERPRETATION: PELOD scores indicating a worsening condition or no improvement over time were indicators of a poor prognosis in the PICU. A set of seven days for measurement of the PELOD score during the PICU stay provided optimal information on the progression of multiple-organ dysfunction syndrome in critically ill children.

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?

We report on two familial cases from a non-consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy mother. The fetal karyotype was normal and cystic fibrosis screening was negative. Regular scans were performed throughout the pregnancy. The child was born at 34 weeks gestation. Choanal atresia was diagnosed at birth and abdominal investigations showed multiple atresia interesting both the small bowel and the colon. Further interventions were necessary because of recurrent obstructions. During the following pregnancy, a dilatation of the fetal intestinal tract was detected by ultrasonography at 27 weeks of gestation. Pregnancy was interrupted. Post-mortem examination of the fetus confirmed the stenosis of long segments of the small intestine associated with areas of colonic atresia. In both cases, histology and distribution were consistent with those reported in hereditary multiple intestinal atresia (HMIA). An association between multiple intestinal and choanal atresia has never been reported. We suggest it could correspond to a new autosomal recessive entity for which cytogenetic investigations and high-resolution array CGH revealed no visible anomalies.