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Rapid-onset Obesity with Hypoventilation, Hypothalamic Dysfunction and Autonomic Dysregulation is a rare and complex pediatric syndrome with unknown etiology. The disease hallmark is sudden and severe obesity in early childhood, with a later onset of central hypoventilation, responsible for high mortality. We present the case of a 2.5-year-old boy with sudden weight gain starting after 12 months of age (18 kg in a year) and hypoventilation in the setting of acute nasopharyngitis, requiring Non-Invasive Ventilation (NIV) initiation. Additionally, he presented symptoms and signs of autonomic disturbance, neurodevelopmental delay and behavior disorders. High prolactin, leptin and insulin were also present. Despite periodic adjustment of settings and adherence to NIV and great efforts to control food intake, he remained morbidly obese and died during an infectious intercurrence at 6 years of age. This case illustrates the challenging diagnosis and treatment/management of this rare syndrome, which can have a variable and not always complete presentation and has no specific diagnostic test available. Identifying hypoventilation and NIV treatment is essential to decrease morbimortality. However, most patients do not live past ten years old.

COVID-19 usually has a mild course in the pediatric population. Several cutaneous manifestations of the condition have been reported, being chilblain-like lesions one of the most common in younger ages. These may manifest as erythematous or violaceous macules, mostly involving the toes and feet, but less frequently also the fingers and hands. These patients usually have a favorable outcome, with complete spontaneous regression of lesions and no complications. The authors report the case of a 12-year-old female patient who presented to the Emergency Department with cutaneous lesions suggestive of chilblains and a diagnosis of COVID-19 infection 17 days earlier., A infeção por COVID-19 tem habitualmente um curso indolente na população pediátrica. Têm sido descritas diversas manifestações cutâneas da condição, sendo as lesões do tipo frieira as mais comuns em idades jovens. Estas podem manifestar-se através de máculas eritematosas ou violáceas que atingem os dedos dos pés e os pés em quase todos os casos, e menos frequentemente as mãos e os dedos das mãos. Estes doentes têm habitualmente uma evolução favorável, com regressão espontânea completa das lesões e sem complicações. É apresentado o caso de uma rapariga de 12 anos que recorreu ao Serviço de Urgência por lesões cutâneas sugestivas de frieiras, que tinha tido o diagnóstico de infeção por COVID-19 17 dias antes.

publicado em:Medicine (Baltimore). 2021 Jan 29;100(4):e23585. doi: 10.1097/MD.0000000000023585 Introduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. Methodology: A 30-year-old woman at 12 weeks of gestation was referred for prenatal diagnosis due to fetal AVSD. Chromosomal microarray analysis (CMA) was carried out after a normal molecular rapid aneuploidy test result. Results: CMA identified, in a male fetus, a 3.11 Mb interstitial deletion at 8p23.1 - arr[GRCh37] 8p23.1(8824857_11935465)x1. This region encompasses 17 OMIM genes including GATA4. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Parental testing was requested and CMA was performed revealing that the deletion is de novo. Discussion: Deletions and mutations of the GATA4 gene are associated with cardiac septal defects. This deletion has a pathogenic clinical significance. The AVSD found in the fetus can be explained by the observed genomic change. Interstitial deletions of 8p23.1 are associated with a variable spectrum of anomalies that include congenital heart malformations. The prevalence is unknown but 8p23.1 deletions are rare. Most 8p deletions occurs de novo. The accuracy of cardiac defects in obstetric ultrasound and the identification of the genetic cause provide more knowledge for the genetic counseling. The parents opted to terminate the pregnancy. N/A