Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Background: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

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.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Upregulated signal flow through RAS and the mitogen-associated protein kinase (MAPK) cascade is the unifying mechanistic theme of the RASopathies, a family of disorders affecting development and growth. Pathogenic variants in more than 20 genes have been causally linked to RASopathies, the majority having a dominant role in promoting enhanced signaling. Here, we report that SPRED2 loss of function is causally linked to a recessive phenotype evocative of Noonan syndrome.

A rare cause of cyanosis: Congenital methemoglobinemia.

Congenital Methemoglobinemia is a rare condition that may mimic congenital heart diseases. There are two types of congenital Methemoglobinemia. The type I is usually benign.

Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

Background: Short stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

Background: Hypothyroidism with impairment of renal function and raised creatinine phosphokinase (CPK) is described in adults and children with acquired hypothyroidism, but not in congenital hypothyroidism.

Case Presentation: A male infant born at term weighing 3390 g was seen aged 2 months with prolonged jaundice. Examination showed somnolence, umbilical hernia, enlarged fontanelles and lower limb edema; length 55 cm (-1.

Validation of the Arabic and Tunisian Arabic version of the KINDL questionnaires for children with diabetes type 1.

Aim: We aimed to validate the Arabic and Tunisian Arabic versions of diabetes- specific quality of life (QOL) instrument KINDL-R Diabetes Module for Tunisian children population with type 1 diabetes.

Patients And Methods: This a cross-sectional study to validate Arabic and Tunisian KINDL QOL instrument that we translate in literary and dialectal Arabic. Both forward and backward translations from the German version of KINDL QOL into Arabic version were performed.

Implementation of effective transition from pediatric to adult diabetes care: epidemiological and clinical characteristics-a pioneering experience in North Africa.

Aims: Type 1 diabetes is increasing in children leading more T1D young adults to adult healthcare settings. This change is experienced as a tear and results in a disengagement from specialist services. This study reports on an implementation of an effective and pioneering program of transition in North Africa.

A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Phosphoglucomutase 3 (PGM3) protein catalyzes the conversion of N-acetyl-d-glucosamine-6-phosphate (GlcNAc-6-P) to N-acetyl-d-glucosamine-1-phosphate (GlcNAc-1-P), which is required for the synthesis of uridine diphosphate N-acetylglucosamine (UDP-GlcNAc) an important precursor for protein glycosylation. Mutations in PGM3 gene have been recently shown to underlie a new congenital disorder of glycosylation often associated to elevated IgE. Herein, we report twelve PGM3 deficient patients.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Background And Aims: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN.

Tuberculous meningitis in Bacille Calmette-Guerin-vaccinated children: clinical spectrum and outcome.

The Bacille Calmette-Guérin vaccination (BCG) contributed widely to reduce tuberculosis incidence in developing countries. The aim of this report was to assess the clinical "spectrum" and outcome of tuberculous meningitis in 16 Bacille Calmette-Guérin-vaccinated Tunisian children. They were 9 boys and 7 girls aged 2 to 168 months (median 72 months ± 65.

C677t polymorphism of MTHFR and G80A polymorphism of RFC genes and their relation with homocysteine levels in obese Tunisian children.

Aims: To investigate the frequencies of C677T polymorphism in MTHFR gene and G80A polymorphism in RFC gene in obese and no obese Tunisian children and to assess their relation with homocysteine (tHcy), folate and vitamin B12 levels.

Methods: We have studied 31 obese compared to 22 no obese children. tHcy was assessed by fluorescence-immunoassay ; folate and vitamin B12 by radioimmunoassay.

Congenital lobar emphysema. Report of 17 cases.

Unlabelled: The aim of this report is to determine frequency and clinical characteristics of Congenital lobar emphysema (CLE) at Children's Hospital of Tunis.

Methods: Cases of CLE managed between January the 1st 1994 until December the 31st 2004 were reviewed.

Results: Amongst 31 cases of cystic pulmonary malformations we report 17 CLE.