Novel AARS2 gene mutations encoding mitochondrial alanyl-tRNA synthetase are important in the spectrum of different phenotypes expressed in the nervous system. Leukodystrophy and ovarian failure in females are common ...Novel AARS2 gene mutations encoding mitochondrial alanyl-tRNA synthetase are important in the spectrum of different phenotypes expressed in the nervous system. Leukodystrophy and ovarian failure in females are common phenotypes. Peripheral demyelination is not a recognized aspect of the AARS2 phenotype. A patient with preceding Lyme neuroborreliosis developed progressive leukodystrophy and peripheral demyelinating motor polyneuropathy. Serial magnetic resonance imaging showed progressive inflammatory demyelination extending to the corticospinal tracts. Treatment with a standard of care of antibiotics and immune-modulatory therapy employing intravenous immune globulin was employed. The contribution of neuroborreliosis is not well understood in the expression of the AARS2 phenotype.展开更多
Introduction: Post-streptococcal chorea is the most common form of acquired chorea in children. Objective: The objective of this study was to contribute to better management of this condition by giving the characteris...Introduction: Post-streptococcal chorea is the most common form of acquired chorea in children. Objective: The objective of this study was to contribute to better management of this condition by giving the characteristics of the epidemiological, clinical, biological, etiological, therapeutic and evolutionary aspects. Methodology: This was a retrospective and descriptive study from January 2021 to December 2021 which took place in the pediatrics department of the Mother and Child University Teaching Hospital of N’Djamena (CHU-ME). All the children in whom we observed abnormal involuntary movements whose age was less than or equal to 15 years were concerned. Result: there were three female children. The average age was 7.5, of which the two are 7 years old and the third is 8 years old. Two had a history of angina. A notion of polyarthralgia and dental caries was found in the third. The diagnosis of post-streptococcal chorea was retained on the basis of clinical arguments: observation of abnormal movements of the limbs and the face, which are involuntary, sudden with an insidious and progressive onset, muscular hypotonia, and psychic disorder. Medical imaging, in particular echocardiography, which objectified two cases of associated rheumatic valvular disease. Remission was observed in all three children after two weeks of treatment with haloperidol, penicillin. Those with associated rheumatic valve disease also received corticosteroid therapy. Complete remission of chorea was observed in all three girls. Prophylaxis in two patients based on Penicillin V was instituted. Conclusion: Although less frequent, post-streptococcal chorea is still seen in our country and is still an important health problem that needs more real medical efforts.展开更多
文摘Novel AARS2 gene mutations encoding mitochondrial alanyl-tRNA synthetase are important in the spectrum of different phenotypes expressed in the nervous system. Leukodystrophy and ovarian failure in females are common phenotypes. Peripheral demyelination is not a recognized aspect of the AARS2 phenotype. A patient with preceding Lyme neuroborreliosis developed progressive leukodystrophy and peripheral demyelinating motor polyneuropathy. Serial magnetic resonance imaging showed progressive inflammatory demyelination extending to the corticospinal tracts. Treatment with a standard of care of antibiotics and immune-modulatory therapy employing intravenous immune globulin was employed. The contribution of neuroborreliosis is not well understood in the expression of the AARS2 phenotype.
文摘Introduction: Post-streptococcal chorea is the most common form of acquired chorea in children. Objective: The objective of this study was to contribute to better management of this condition by giving the characteristics of the epidemiological, clinical, biological, etiological, therapeutic and evolutionary aspects. Methodology: This was a retrospective and descriptive study from January 2021 to December 2021 which took place in the pediatrics department of the Mother and Child University Teaching Hospital of N’Djamena (CHU-ME). All the children in whom we observed abnormal involuntary movements whose age was less than or equal to 15 years were concerned. Result: there were three female children. The average age was 7.5, of which the two are 7 years old and the third is 8 years old. Two had a history of angina. A notion of polyarthralgia and dental caries was found in the third. The diagnosis of post-streptococcal chorea was retained on the basis of clinical arguments: observation of abnormal movements of the limbs and the face, which are involuntary, sudden with an insidious and progressive onset, muscular hypotonia, and psychic disorder. Medical imaging, in particular echocardiography, which objectified two cases of associated rheumatic valvular disease. Remission was observed in all three children after two weeks of treatment with haloperidol, penicillin. Those with associated rheumatic valve disease also received corticosteroid therapy. Complete remission of chorea was observed in all three girls. Prophylaxis in two patients based on Penicillin V was instituted. Conclusion: Although less frequent, post-streptococcal chorea is still seen in our country and is still an important health problem that needs more real medical efforts.
