Congenital nephrotic syndrome of the Finnish type in the neonatal period: diagnostic and therapeutic challenges

Florence Fares (1), Nancy Laval (1), Jana Assy (2), André Mulder (3) Published in the journal : October 2024 Category : Neonatology

Congenital nephrotic syndrome (CNS) is a rare and severe disorder that manifests in utero or during the first 3 months of life and is amenable to prenatal diagnosis. We report a case of CNS of the Finnish-type, the most common form of the disease, in a Lebanese newborn admitted to the neonatal intensive care unit for generalized edema. The diagnosis was confirmed by the presence of two compound heterozygous mutations in the NPHS1 gene. Despite optimal conservative treatment, the course of the disease was characterized by numerous complications resulting from massive protein loss. This case report illustrates the complexity of managing severe forms of CNS, especially in the neonatal period. We discuss its diagnostic, evolutionary, and therapeutic aspects, as well as the importance of genetic testing.

Read more

Neonatal myocardial infarction: a rare and complex entity

Nancy Laval (1,2), David Bienjonetti-Boudreau (3), Joaquim Miro (3), Sophie Tremblay (1), Christophe Vô (3,4) Published in the journal : May 2023 Category : Neonatology

Although myocardial infarction is a major cause of death worldwide, this pathology is uncommon in pediatrics and mainly occurs during the neonatal period. There are very few cases described in the literature. While multiple recommendations exist in the field of adult cardiology, there is no real worldwide consensus on myocardial infarction management in young children, although some etiologies are well established. This article describes a case of complex neonatal resuscitation in a newborn with a confirmed diagnosis of myocardial infarction during the first day of life. This case report will provide a recent literature review on this topic and establish optimized therapeutic management.

Read more

COVID-19 in neonatology: a synthesis of the current situation

Julien Toulmonde, Olivier Danhaive, Nancy Laval, Fiammetta Piersigilli Published in the journal : May 2020 Category : Neonatology

The beginning of 2020 was marked by the spread of SARS-CoV-2 virus, a new virus from the beta-coronavirus family, from Hubei, China. This virus is responsible for a global pandemia of pneumonia with acute respiratory distress syndrome. Although the infection appears to be less acute in the pediatric population, neonates tend to be more frequently affected. Several cases of neonatal SARS-CoV-2 infections have been reported to date, including one in an extremely premature neonate. Nevertheless, the clinical picture seems to be less critical and neonatal mortality associated with COVID-19 has not been reported to date. The transmission mode from mother to infant has not been clearly demonstrated so far. Breastfeeding is allowed in most countries. The aim of this article is to summarize the epidemiological context and current knowledge on COVID-19 in infants and neonates.

Read more