Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Background: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in or . Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum.

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Introduction: Medical simulation is a crucial educational tool for training healthcare professionals, renowned for its effectiveness in learning. However, its application as an assessment tool remains uncommon.

Aim: To evaluate simulation as a tool for assessing training in the management of COVID-19 patients.

Epidemiological, Bacteriological, and Evolutive Features of Children Hospitalized for Infective Endocarditis in a Tertiary Tunisian Pediatric Department.

Background: Infective endocarditis is a rare condition in childhood, and there is limited data on this disease in Tunisia.

Objective: This study aims to analyze the epidemiological profile, bacteriological data, and prognosis of infective endocarditis in children admitted to the pediatric department of a University Hospital in Tunisia.

Methods: We conducted a comparative cross-sectional study in the pediatric department of Sahloul Teaching Hospital in Sousse, a tertiary referral hospital in Tunisia.

Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report.

Background: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare.

Case Presentation: We report a case of a 2.

Clinical and radiological findings of posterior reversible encephalopathy syndrome in children: About 16 children hospitalized in the pediatric department of a Tunisian tertiary care hospital.

Background: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity most frequently described in young- or middle-aged adults with a rare occurrence among children.

Aim: To determine the clinical, radiological features and outcome of PRES in children admitted to a Tunisian tertiary care pediatric department.

Methods: we retrospectively reviewed records of all children under 18 years old diagnosed with PRES and admitted to the PICU of the Pediatric department of Sahloul University Hospital from January 2000 to August 2021.

[Coronary artery aneurysm in Kawasaki disease and its risk factors : a retrospective study about 65 Tunisian children].

Introduction: Kawasaki syndrome (KS) is a systemic vasculitis of unknown etiology that affects medium and small blood vessels. The aim of our study is to analyze coronary artery lesions in children with KS and their risk factors.

Material And Methods: All children under the age of 15 years-old presenting KS and admitted in the pediatric department of three university hospital (Sahloul hospital, and Farhat Hached hospital of Sousse, Ibn El Jazzar hospital of Kairoun) from January 2000 to December 2018 were included.

Acute disseminated encephalomyelitis: A retrospective study of 20 children in a pediatrics department in Tunisia.

Background: Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system. Little information is available about the clinical and neuroradiological profile or the follow-up of this disease in Tunisian children.

Aim: To determine the clinical, laboratory, and radiological features and the outcome of ADEM in children admitted to the pediatrics department of a university hospital in Tunisia.

A fatal toxic shock-like syndrome post COVID-19 infection in a child.

Background: Children affected by Coronavirus disease 2019 (COVID-19) showed various manifestations. Some of them were severe cases presenting with multi-system inflammatory syndrome (MIS-C) causing multiple organ dysfunction.

Case Presentation: We report the case of a 12-year-old girl with recent COVID-19 infection who presented with persistent fever, abdominal pain and other symptoms that meet the definition of MIS-C.

Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis.

Introduction: Balloon Valvuloplasty is the first-line treatment for congenital valve pulmonary stenosis (PS) in children and adults.

Methods: We reported immediate results of balloon valvuloplasty in congenital pulmonary stenosis from 2014 to 2019.

Results: BPV was performed in 40 patients, the diagnosis was based on cardiac ultrasound data showing valvular dysplasia in 92% of cases, the main associated anomaly is FOP in 22.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

Valve-sparing aortic root and aortic arch replacement in a 5-year-old boy with Loeys-Dietz syndrome.

In this study, we describe the case of a 5-year-old boy who presumably presented with Loeys-Dietz syndrome. A huge aneurysm of the ascending aorta and the aortic arch extended beyond the left subclavian artery and was accompanied by a slight narrowing of the aortic isthmus.

Success of anti-CD20 monoclonal antibody treatment for severe autoimmune hemolytic anemia caused by warm-reactive immunoglobulin A, immunoglobulin G, and immunoglobulin M autoantibodies in a child: a case report.

Background: Autoimmune hemolytic anemia is rare in children. First-line therapies for this disease consist of corticosteroids and intravenously administered immunoglobulin that are effective in most patients. However, a small proportion of cases (5 to 10%) is refractory to these therapies and may represent a medical emergency, especially when hemolysis is due to warm immunoglobulin M.

Pseudotumoral acute cerebellitis associated with mumps infection in a child.

Pseudotumoral cerebellitis in childhood is an uncommon presentation of cerebellitis mimicking a brain tumor. It often follows an inflammatory or infectious event, particularly due to varicella virus. Patients could have a wide clinical spectrum on presentation.

Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome.

Ellis-van Creveld syndrome (EvC) is an autosomal recessive inherited disease resulting from mutations in EVC1 or EVC2. Patients with this condition normally have chondrodysplasia, postaxial polydactyly, ectodermal dysplasia and congenital heart defects. We report the case of a 13-year-old Tunisian child who was admitted for cyanosis and acute heart failure.