RESUMO
Fibrodysplasia ossificans progressiva is a rare genetic disease that manifests in early life with malformed big toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. Mutation c.617G>A in the activin A receptor type I gene is reported in all patients with fibrodysplasia ossificans progressiva. No cases of cardiac involvement have been described in children. We report the case of a child with halluces valgi at birth, along with two tender, firm, immovable masses located on the right and left parietal-occipital region, a transitory subluxation of the right hip and an unusual ventricular septal hypertrophy. We hypothesize that the ventricular septal hypertrophy could be the result of a thickening of the fibrous portion of the septum, and a possible new element of the phenotype, probably resulting from the mechanical stimuli secondary to the significant hemodynamic changes occurring at birth.
Assuntos
Hallux Valgus/diagnóstico , Cardiopatias Congênitas/diagnóstico , Miosite Ossificante/diagnóstico , Septo Interventricular/patologia , Receptores de Ativinas Tipo I/genética , Ecocardiografia , Hallux Valgus/genética , Cardiopatias Congênitas/genética , Humanos , Hipertrofia , Recém-Nascido , Masculino , Mutação de Sentido Incorreto/genética , Miosite Ossificante/genética , Tomografia Computadorizada por Raios XRESUMO
BACKGROUND: The aim of this exploratory survey is to describe the current state of US (ultrasound) technique across different pediatric settings nationwide. METHODS: A questionnaire was emailed to all members of the Italian Society of Pediatrics, including pediatric residents. The survey was open from December 2021 to March 2022. RESULTS: There were 1098 respondents. Seven hundred and seven pediatricians (84.1%) reported any use of US, while 51 (44.3%) residents denied it. The majority of participants (n = 956, 87.1%) reported to have a US machine available within the department, mostly cart-based (n = 516, 66.9%) and provided from 1 to 5 years prior to the survey (n = 330, 42.8%). Lung and neonatal cerebral regions were the most frequently scanned (n = 289, 18.7% and n = 218, 14.1%, respectively). The suspicion of pneumonia or respiratory distress represented the main reasons for performing US in emergency room (n = 390, 78% and n = 330, 66%, respectively). The majority of family pediatricians reported to scan lung and kidney/urinary tract regions (n = 30, 16.9%, and n = 23,12.9%, respectively). Regarding US training, the majority of respondents (n = 358, 34.6%) declared an experience-based education, with a deficient certification enabling the use of US in 71.6% (n = 552) of cases. The most common barriers included the lack of a well-defined training program (n = 627, 57.1%), unavailability of the US machine (n = 196, 17.9%) and legal responsibility concern (n = 175, 15.9%). CONCLUSIONS: Despite the growing interest on pediatric US nationally, significant barriers still limit widespread adoption. These obstacles may be addressed through the dissemination of a specific US education plan and providing additional resources.
Assuntos
Pediatria , Padrões de Prática Médica , Ultrassonografia , Itália , Humanos , Inquéritos e Questionários , Padrões de Prática Médica/estatística & dados numéricos , Feminino , Masculino , Criança , PediatrasRESUMO
Benign proliferative lesions of the bladder are exceptional in neonates. We describe a case of a 3-day-old neonate, presenting with bloody meconium and sonographic diagnosis of bladder mass. Cystoscopic biopsies were performed and a diagnosis of polypoid cystitis was made. The patient was treated conservatively and the lesion healed during follow-up. We review the literature of other cases of neonatal bladder masses.