Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. Features characteristic of the BWS phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and mid-face hypoplasia, as well as biochemical abnormalities such as hypoglycemia. It is essential for the neonatal nurse to be able to recognize BWS in the patient's early years of life because of the increased frequency of medical complications, malformations, and the increased risk of embryonic malignancies. This article focuses on the presentation of BWS as an aid to early detection.
2003 and 2019, were considered. A telephonic questionnaire about medical assistance during the COVID-19 pandemic lockdown was filled with information provided by their legal guardian, after verbal consent. Collected data included: legal guardian sociodemographic factors, need for acute medical care, clinical settings and postponement of other medical services between 15th march and 30th June of 2020. During the period under analysis, the ED had a total of 2964 admissions.Were gathered 440 validated questionnaires out of the 1816 HU, children's mean age 9±4.9 years, informant´s average age of 39 years, it was the mother in 84% and 35% had the 12th grade of schooling.During the period under analysis, 134 (30.5%) of the sample had at least one episode of illness, whereas 21 (15.7%) didn´t seek medical help (5 for fear and 16 for mild symptoms).Out of the 113 (84.3%) who sought medical assistance, 69 (61.01%) went in person [62 (89,9%) to the Pediatric ED]. The others 44 (38.9%) through phone contact (27 called 'Saúde24', 9 the Health Center and 8 the Private Pediatrician), out of them, 24, 4 and 3 were respectively referred to the ED.The search for care by phone was more frequent in younger age groups and when the informant's had a degree level.Upper respiratory infections were the most frequent diagnosis (43.2%), next to gastrointestinal symptoms (14.2%) and injuries (11.9%).Consultations were the most delayed health care, 44 cases (41 by order of the service and 3 due to patient's request). We recorded 2 cases of postponed vaccination.Amongst our sample, 93 (21%) came to the ED, constituting 3.1% of the global admissions during this first pandemic period. It´s reasonable to question whether the recurrence rate would be much higher (12.9%) if the entire population of HU was studied. It´s noticeable that the HU had still a meaningful impact in the ED during the pandemic, where the demand decreased significantly, which confirms their role as an important stress factor and the absence of behavioural change.
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