Background Failure to thrive is a common reason for referral to paediatric services. Malnutrition or inadequate caloric intake is the most common cause, while organic form is unlikely in children who are asymptomatic and healthy on examination. By this study we evaluate the application of a cost-effective flow chart that helps the clinician in a hospital setting discern accurately organic and non-organic failure to thrive. Methods Conduct a prospective single-center study in children up to 2 years of age with growth faltering. The pediatricians used a practical flow chart, took the medical history, created a growth chart, performed clinical examinations, and requested blood test and consultations in a step by step approach. Results Among the 74 subjects included in the study, the diagnosis of organic failure to thrive was reached by 42%. Gastrointestinal and genetic diagnoses were the most frequent. Patients with organic failure to thrive had significantly lower gestational age and birth weight. Age at diagnosis and Z-score weight were lower in organic than in non-organic forms. Most patients with non-organic forms (88%) did not undergo in-depth blood test or specialist advice. Conclusion The flow chart we presented was accurate for diagnosing children with failure to thrive in a hospital setting and distinct organic and non-organic forms. It was cost-effective to avoid unnecessary blood test or consultations in most non-organic diagnoses.

The Fontan operation is a palliative procedure that leads to increased survival of patients with a functional single ventricle (SV). Starting from 1967 when the first operation was performed by Francis Fontan, more and more patients have reached adulthood. Furthermore, it is expected that in the next 20 years, the population with Fontan circulation will reach 150,000 subjects. The absence of right ventricular propulsion and the inability to improve cardiac output because of the low cardiac reserve are the main issues with the Fontan circulation; however, potential complications may also involve multiple organ systems, such as the liver, lungs, brain, bones, and the lymphatic system. As these patients were initially managed mainly by pediatric cardiologists, it was important to assure the appropriate transition to adult care with the involvement of a multidisciplinary team, including adult congenital cardiologists and multiple subspecialists, many of whom are neither yet familiar with the pathophysiology nor the end-organ consequences of the Fontan circulation. Therefore, the aim of our work was to collect all the best available evidence on Fontan's complications management to provide “simple and immediate” information sources for practitioners looking for state of the art evidence to guide their decision-making and work practices. Moreover, we suggest a model of follow-up of patients with Fontan based on a patient-centered multidisciplinary approach.

Variety of media have popularized restrictive diets in diabetes mellitus reporting that carbohydrates are the cause of glycemic excursion, excessive insulin dosage, and weight gain. We report 2 cases of children with type 1 diabetes where adherence to restricted carbohydrate diets caused growth failure. Two prepubertal patients with type 1 diabetes presented at follow-up visit during the honeymoon period with no weight increase and low height velocity. Dietetic evaluation revealed a low-carbohydrate diet had been introduced in an attempt to achieve less postprandial excursions in the blood glucose readings. The 2 patients started to improve weight and height when the appropriate amount of carbohydrates was given. There are few published data to support not to restrict carbohydrate; therefore, we report 2 cases of children with type 1 diabetes where adherence to this diet caused growth failure. We want to emphasize the importance of educating families of children with type 1 diabetes on this aspect, particularly when they are in the honeymoon phase or this one is concluding.

Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe a patient with infantile Pompe disease and hypertrophic cardiomyopathy that evolved into non-compaction myocardium after treatment. The male newborn had suffered since birth with hypertrophic cardiomyopathy and heart failure. He was treated with standard enzyme replacement therapy (ERT) (alglucosidase alfa) and several immunomodulation cycles due to the development of anti-ERT antibodies, without resolution of the hypertrophic cardiomyopathy. At the age of 2.5 years, he was treated with a new combination of ERT therapy (cipaglucosidase alfa) and a chaperone (miglustat) for compassionate use. After 1 year, the cardiac hypertrophy was resolved, but it evolved into non-compaction myocardium. Non-compaction cardiomyopathy is often considered to be a congenital, primitive cardiomyopathy, due to an arrest of compaction of the myocardium wall during the embryonal development. Several genetic causes have been identified. We first describe cardiac remodeling from hypertrophic cardiomyopathy to a non-compaction form in a patient with infantile Pompe disease treated with a new ERT. This has important implications both for the monitoring of Pompe disease patients and for the understanding of the pathophysiological basis of non-compaction myocardium.

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Zahlreiche Medien haben restriktive Diäten bei Diabetes mellitus populär gemacht und berichtet, dass Kohlenhydrate die Ursache für Blutzuckerspitzen, extrem hohe Insulin-Dosierungen und Gewichtszunahme sind. In der vorliegenden Arbeit berichten wir über zwei Fälle von Kindern mit Diabetes mellitus Typ 1, bei denen die Einhaltung einer streng kohlenhydratreduzierten Diät Wachstumsstörungen zur Folge hatte. Zwei präpubertäre Patienten mit Typ-1-Diabetes zeigten bei der Kontrolluntersuchung während der Honeymoon-Phase eine fehlende Gewichtszunahme und geringe Wachstumsgeschwindigkeit. Die Ernährungsanalyse ergab, dass eine kohlenhydratarme Diät begonnen worden war, um eine Reduzierung der postprandialen Blutzuckerspitzen zu erreichen. Nach Zufuhr entsprechender Kohlenhydratmengen begannen das Gewicht und die Körpergröße der beiden Patienten zu steigen. Es liegen nur wenige veröffentlichte Daten vor, die dafür sprechen, die Kohlenhydratzufuhr nicht zu begrenzen; darum berichten wir in der vorliegenden Arbeit über zwei Fälle von Kindern mit Typ-1-Diabetes, bei denen die Einhaltung einer solchen Ernährungsform zu Wachstumsstörungen geführt hat. Besonders hervorheben möchten wir, dass dabei die Schulung der Familien von Kindern mit Typ-1-Diabetes zu diesem Aspekt eine wichtige Rolle spielt, vor allem wenn sich die Kinder gerade in der Honeymoon-Phase befinden oder diese zu Ende geht.

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