Congenital heart disease: Epidemiological, genetic and evolutive profil.

Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children.

Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease.

Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Objectives: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls.

Methods: Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments.

Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.

Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described.

Urinary tract infection in the neonates: what radiologic investigations should we do?

Introduction: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine.

Aim: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram.