Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes.

Syncope in pediatric patients presenting to an emergency department.

OBJECTIVE: To assess the epidemiology of syncope coming to medical attention among unselected children referred to an emergency department in Western Europe. STUDY DESIGN: We analyzed the cause of syncope and diagnostic workup of 226 consecutive pediatric patients seen in our emergency department because of a syncopal event. RESULTS: Neurocardiogenic syncope and neurologic disorders were the most common diagnoses (80% and 9%, respectively). Other causes included psychologic, cardiac, respiratory, toxicologic, and metabolic problems. The neurocardiogenic and disease-related syncopes were easily identified or suspected by history and physical examination. Electrocardiography was not performed in 132 cases (58%). Most patients with suspected neurocardiogenic syncope had an electroencephalogram, and 29% were admitted to the hospital. Cardiac disorders represented 5 cases (2%); 2 had been previously misdiagnosed. CONCLUSIONS: Syncope in children can result from a wide variety of causes. Consequently, an evaluation that fails to approach this problem in a goal-directed fashion proves to be very expensive, time-consuming, and frustrating to all concerned. Thorough history and physical examination are usually all that are necessary to guide practitioners in choosing the diagnostic tests that apply to a given patient.

Chest pain in pediatric patients presenting to an emergency department or to a cardiac clinic.

UNLABELLED: The aim of this study was to assess the epidemiology of chest pain among unselected Belgian children referred to an emergency department or to a cardiology clinic. MATERIAL AND METHODS: We analyzed the etiology to chest pain and the diagnostic workup of 168 consecutive pediatric patients, seen in our emergency department with the primary diagnosis of chest pain over a 5-year period (group A). Simultaneously a sample of 69 consecutive pediatric patients referred to the cardiology clinic by primary care physicians with the same chief complaint was prospectively included in the study (group B). RESULTS: Chest wall pain was the most common diagnosis in the group A (64%). Other causes included pulmonary (13%), psychological (9%), cardiac (5%), traumatic (5%), and gastrointestinal problems (4%). The organic causes were easily identified or suspected by history and physical examination. Chest radiography, electrocardiography, and blood analysis were performed in most patients with suspected nonorganic chest pain but in no case were organic diseases diagnosed by those ancillary studies. In group B, chest wall pain was also the most common diagnosis (89%). Supraventricular tachyarrhythmia and exercise-induced asthma were demonstrated in 5 (7%) and 3 patients (4%), respectively. The most important tools in assessing a child with acute chest pain in an emergency department are thorough history and physical examination. Assessment of recurrent chest pain is more difficult; arrhythmia, and allergic and exercise-induced asthma may be underestimated when investigations are not performed.