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. All children with confirmed congenital heart disease were included. RESULTS: Forty-five patients were included, representing 5.7‰ of all admissions. The sex ratio was 1.4. A prenatal diagnosis of congenital heart disease was established in 9% of cases. The median age at the time of discovery was 18 days. The initial symptomatology was respiratory distress in 64% of cases. The main reasons for performing a cardiac ultrasound were heart murmur in 38% followed by polymalformative assessment in 27% of cases. Most of the cardiopathies were atrial septal defects (42%) and ventricular septal defects (40%). Cyanotic heart diseases represented 29% of cases, conotruncal ones 13% and ductodependent ones 16%. Congenital heart disease was associated with a genetic anomaly in 53% of patients, including 15 cases of trisomy 21 and four Di-George syndromes. The treatment was mainly medical (38%), associated with surgery in 5 cases. Death occurred in nine patients, representing a mortality rate of 20%. CONCLUSION: Efforts still need to be made to improve pre- and post-natal diagnosis and ensure rapid treatment in order to reduce morbidity and mortality in our country.

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. RESULTS: We identified 175 patients with TS, karyotype showing 45, xmonosomy in 83(47.4 %) with mosaicism in 37(20 %). Mean ± SD, median (range) age at diagnosis available in 173 patients was 13 ± 9.2,12 (birth-48) years. The diagnosis was antenatal in 4(2.3 %), from birth-2 years in 14 (8 %)with lymphoedema (8)and dysmorphic features (9),2-12 years in 53 (35.5 %) including 35 with short stature, 13-18 years in 43(28.8 %) with short stature(28) and delayed puberty(14) and 35(23.5 %) after 18 years, related to ovarian insufficiency (20) and short stature (11). The associated malformations were cardiac in 14 (12.8 %), renal in 22 (19.6 %). A total of 56 girls (32 %) had proven gonadal dysgenesis and 13 (7 %) had otological problems. Parental height was available in 71 girls (40 %) of whom 59 were below the lower end of parental target range (LTR) (83 %). CONCLUSIONS: This first Tunisian multicenter study, the first African of its kind, reveals that more than half of Turner syndrome cases are diagnosed after the age of 12 years. Subsequently, national strategies for an earlier TS diagnosis are needed such as measuring and plotting parental heights as well as introducing a systematic height screening at 5 years in Tunisia with a view to carrying out a re-audit in five years' time.

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. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.

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. METHODS: Retrospective data analysis for infants admitted in the neonatal department in Mongi Slim Hospital in Tunis between January 2007 and December 2016 and diagnosed with UTI in the first month of life. RESULTS: 75 newborns were diagnosed with the first episode of UTI during their hospitalization. The median age was 15 days; there were 52 (70%) males. Fetal ultrasound data were available for 70 patients (90%), of whom 14 (20%) had abnormal findings. E.coli was the most common causative pathogen founding 62 patients (83%). Renal ultrasound was performed in all patients, of which 20 (27%) were reported as abnormal. VCUG results were available for 32 infants (43%), of which 11 (34%) were interpreted as abnormal; Eight of them (73%) demonstrated vesicoureteric reflux (VUR).Comparison of the patients with and without malformative uropathy in our study, concluded that there was no significant difference in age, gender, urine culture specimen and positivity of blood culture. However antenatal ultrasound abnormalities were predictive of vesicoureteric reflux and other renal abnormalities (p = 0.001). The sensitivity of renal ultrasound for detection of vesicoureteric reflux and other renal or ureteral abnormalities was 81.8 %, specificity was 81 %. The positive predictive value (VPP) was 69.2 % and the negative predictive value was 89.5 %. CONCLUSION: In infants presenting with UTI in the first month of life, conservative follow-up with renal ultrasound examination and early detection of recurrent UTI are sufficient.