STUDY OF CLINICAL MANIFESTATIONS AND ETIOLOGIES OF MEGALOBLASTIC ANEMIA IN CHILDREN.

Background And Aim: Megaloblastic anemia (MA) is a rare pathology in childhood due, in the majority of cases, to a deficiency of folic acid and/or vitamin B12 (cobalamin). This study aims to determine the epidemiological, clinical, and paraclinical profiles of MA in children and to specify its etiologies, therapeutic modalities, and treatment responses.

Methods: This is a retrospective descriptive study of MA cases in children carried out in the General Pediatrics Department of the Hedi Chaker University Hospital of Sfax over a period of 42 years, from January 1979 to December 2021.

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.

Many inherited conditions cause hepatocellular cholestasis in infancy, including progressive familial intrahepatic cholestasis (PFIC), a heterogeneous group of diseases with highly overlapping symptoms. In our study, six unrelated Tunisian infants with PFIC suspicion were the subject of a panel-target sequencing followed by an exhaustive bioinformatic and modeling investigations. Results revealed five disease-causative variants including known ones: (the p.

Airway management in a rare case of congenital palate teratoma with a cleft palate: A case report.

Airway management in neonates is difficult because of the risk of rapid hypoxia. It presents a challenge even for an experienced anesthesiologist. Oral tumors in neonates can obstruct the airway or feeding problems in the newborn.

[Rheumatic cardiopathies and its risk factors: about 50 cases].

Introduction: Acute rheumatic fever (ARF) is a multi-systemic disease, in which cardiac involvement is the most serious major manifestation of disease. The aim of this study was to analyse cardiac involvement in children with ARF and his risk factors.

Materials And Methods: It were a retrospective study including all children under the age of 14 years who were hospitalized for ARF in the pediatric department of the CHU Hédi Chaker of Sfax, during a period of twelve years (2010-2022).

Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort.

Background: Moyamoya angiopathy is a rare cerebral vasculopathy and an underdiagnosed cause of arterial ischemic stroke in children. We aim to report the clinical and radiological presentations in a Tunisian pediatric cohort.

Methods: We identified moyamoya angiopathy in pediatric patients managed at the Child Neurology Department of Hedi Chaker Sfax University Hospital between 2008 and 2020 and reviewed their clinical and radiological data as well as their evolutionary profile.

Miliary tuberculosis mimicking COVID-19 multisystemic inflammatory syndrome in children.

Miliary tuberculosis (TB) is a severe form of disseminated TB. In pediatrics, many cases are missed because the symptomatology of TB mimics common childhood diseases. We present the case of a 6-year-old girl with no remarkable history who had recurrent fever for 3 months.

[General practitioners' management of childhood asthma in Sfax, Tunisia].

Aims: To study primary care physicians' attitudes toward childhood asthma management and their adherence to international guidelines.

Methods: Cross-sectional, descriptive and analytical survey conducted among 400 primary care physicians practicing in the governorate of Sfax. Data collection was done through a self-administered questionnaire with 36 questions.

Suprasellar Melanocytoma with Leptomeningeal Seeding: An Aggressive Clinical Course for a Histologically Benign Tumor.

Introduction: Meningeal melanocytoma (MM) is a very rare neuroectodermal neoplasm arising from the leptomeninges. Primary suprasellar melanocytomas are exceedingly rare, with only a handful of cases reported. The systemic spread of a nontransformed meningeal melanocytoma is an unusual occurrence.

An Apical Mass of the Left Ventricle After a Myocardial Infarction: Imaging Contribution.

Intramyocardial dissecting hematoma (IDH) is a rare complication of myocardial infarction (MI). It can affect the left ventricular free wall, the right ventricle, or the interventricular septum. We report a case of a 58-year-old man with an IDH following an acute anterior wall myocardial infarction detected by echocardiography and confirmed by Cardiac magnetic resonance (CMR).

Childhood asthma : factors predicting severity and persistence of symptoms.

Background: Asthma is the most common chronic disease in infants. In young children, asthma still raises many questions and many points are still being debated.

Aim: The aim of this study is to identifies, in asthmatic children, factors predictors of severity and persistence of symptoms.

Hypersensitivity pneumonitis related to imatinib mesylate therapy in a patient with chronic myeloid leukemia.

Introduction: Pulmonary toxicity causally related to Imatinib (IM) therapy is uncommon in patients with chronic myeloid leukemia.

Case Report: A 61-year-old patient with chronic myeloid leukemia was treated with IM at 400 mg daily dose. One month within IM, he developed skin lesions and then acute dyspnea and non-productive cough.

Combination of amphotericin B and caspofungin in the treatment of mucormycosis.

We report a case of invasive mucormycosis in 52 year-old woman. CT-scan and magnetic resonance imaging found a partial right sinus thrombosis associated with homolateral ethmoidal and maxillary sinusitis with submucosal inflammation. Histopathological examination of excised tissue was positive for mucormycosis.

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.

: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. : we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and immunologic disorders, malignancies, and metabolic diseases. Early and accurate diagnosis of HLH and its underlying cause is of paramount importance for proper management and prognosis. We report the case of a Tunisian 21-month-old girl who initially presented clinical features of HLH related to a lysosomal acid lipase deficiency.

Performance of an Easy and Simple New Scoring Model in Predicting Multidrug-Resistant Enterobacteriaceae in Community-Acquired Urinary Tract Infections.

Background: Multidrug resistance (MDR) is a growing global problem in bacterial community-acquired urinary tract infections (CUTIs). We aimed to propose an easy-to-use clinical prediction model to identify patients with MDR in CUTI.

Methods: We conducted a retrospective study including 770 patients with documented CUTI diagnosed during 2010-2017.

A new combined predicting model using a non-invasive score for the assessment of liver fibrosis in patients presenting with chronic hepatitis B virus infection.

Objectives: Several non-invasive markers have recently been proposed to predict liver fibrosis without percutaneous liver biopsy (PLB). We aimed to evaluate the performance of non-invasive scores and to highlight the value of a new combined score in the prediction of liver fibrosis in chronic hepatitis B (CHB) patients.

Patients And Methods: We performed a retrospective study of patients presenting with CHB who underwent PLB between 2008 and 2016.

Hypoparathyroidism in children: a study of eight cases.

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013.

Fulminant mulch pneumonitis in a previously healthy child.

Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with aspergillus species remains the greatest cause of mortality. Acute fulminant presentations of fungal pneumonia are catastrophic.

[Ocular tuberculosis : A case series].

Objectives: Ocular tuberculosis is a rare form of extra pulmonary tuberculosis. It represents 1-2% of all clinical forms. The aim of this work was to focus on diagnostic and therapeutic characteristics of ocular tuberculosis.

[Management of patients with major beta thalassemia in a paediatric department in the south of Tunisia: About 26 cases].

Aim: Our objectives were to assess the management of patients with major thalassemia and identify the various complications and monitoring means.

Patients And Methods: A retrospective study was conducted on 26 β-thalassemic patients in the department of paediatrics, Hédi Chaker hospital, Sfax, Tunisia during a period of 25 years (from 1 January 1990 to 31 December 2014).

Results: The mean age of the beginning of transfusion was 11.

[Symmetrical peripheral gangrene: 4 cases].

Background: Symmetric peripheral gangrene (SPG) is a symmetrical distal ischemic lesion on at least 2 or more extremities in the absence of proximal arterial obstruction and vasculitis. It is a rare and severe clinical entity. The aim of this study was to describe clinical symptoms, etiological agents and the management of SPG through a series of 4 cases.