A5014508802- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Pharmacological Effects and Toxicity Studies
- Genomics and Rare Diseases
- Neonatal and fetal brain pathology
- Genomic variations and chromosomal abnormalities
- Nerve Injury and Rehabilitation
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Long-Term Effects of COVID-19
- Congenital heart defects research
- Cerebral Venous Sinus Thrombosis
- Peripheral Nerve Disorders
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Moyamoya disease diagnosis and treatment
- Fetal and Pediatric Neurological Disorders
- Tuberculosis Research and Epidemiology
- Multiple Sclerosis Research Studies
- Autoimmune Neurological Disorders and Treatments
- Cerebral Palsy and Movement Disorders
- Protein Tyrosine Phosphatases
- Immunodeficiency and Autoimmune Disorders
- Neonatal Health and Biochemistry
- Dermatological and Skeletal Disorders
University of Sfax
2017-2024
Hopital Universitaire Hedi Chaker
2018-2024
Search
2023
Hopital Universitaire Habib Bourguiba
2016-2018
Abstract Metachromatic leukodystrophy (MLD) is a severe metabolic disorder caused by the deficient activity of arylsulfatase A due to ARSA gene mutations. According age onset, MLD classified into three forms: infantile, juvenile, and adult. In our study, we aimed perform genetic analysis for two siblings with juvenile better characterization molecular mechanisms behind disease. consanguineous family including patients (PII.1 PII.2) was enrolled in study. The diagnosis made based on clinical...
Abstract Central nervous system (CNS) BCGitis is a rare but very severe complication of the Bacille Calmette–Guerin (BCG) vaccine. It could be diagnostic challenge that may lead to delay in treatment. A 5-month-old boy presented with infantile spasms, had posted natal BCG vaccination and developed brain tuberculomas as BCGitis. Laboratory findings were normal. He received 14 months antitubercular regimen good tolerance both clinical radiological improvement. The main difficulty make...
Abstract Sanjad–Sakati syndrome (SSS), or hypoparathyroidism–mental retardation dysmorphism syndrome, is a rare autosomal recessive congenital disorder characterized by hypoparathyroidism, growth and neurodevelopmental delay, acute symptomatic seizures due to hypocalcemia, dysmorphic features. The underdiagnosed, neurological manifestations are not previously described. We report three Tunisian patients with SSS revealed hypocalcemic epileptic seizures. Despite the well-controlled seizures,...
Abstract Burkitt's lymphoma (BL) is a high-grade mature B cell neoplasm. Primary of the central nervous system (CNS) very rare. In contrast, BL can be localized in any part body and may spread to CNS. Peripheral impairment caused by has been thoroughly described. However, Guillain–Barre syndrome (GBS) does not commonly appear as an initial manifestation BL. We presented case young child with sporadic neuromeningeal involvement spinal cord compression whose first clinical was appearance GBS....