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
Lyme neuroborreliosis (LNB) in children is a challenging diagnosis based on clinical manifestations and laboratory findings. The aim of this study was to investigate whether herpes simplex virus (HSV) 1 or 2, varicell...Lyme neuroborreliosis (LNB) in children is a challenging diagnosis based on clinical manifestations and laboratory findings. The aim of this study was to investigate whether herpes simplex virus (HSV) 1 or 2, varicella zoster virus (VZV), enterovirus or tick-borne encephalitis virus (TBEV) could be identified in cerebrospinal fluid (CSF) or serum from children being evaluated for LNB, in order to elucidate whether such infectious diseases may be missed by the clinician. Methods: Ninety-nine pediatric patients (n = 99) were retrospectively included from a previous study on LNB in southeast of Sweden. They had been diagnosed as “Possible LNB” or “Not determined” due to negative Borrelia antibody index in CSF. Routine polymerase chain reaction (PCR) methods were used for detection of herpes viral RNA or enteroviral DNA in CSF. An ELISA assay was used for detection of anti-TBEV antibodies (IgM and IgG) in serum. Results: One patient showed elevated anti-TBEV IgM and IgG antibodies in serum, indicating a current TBE infection. No positive PCR reactions for HSV 1 or 2, VZV or enterovirus were detected in CSF from any of the patients. In conclusion, our results suggest that undiagnosed herpes- or enteroviral infections are unlikely to explain CNS symptoms in children being evaluated for LNB, whereas missed TBE infections may occur. TBEV serology should be included when evaluating children for LNB in TBE endemic areas.展开更多
Visual disorders may occur in Neuroborreliosis, Multiple Sclerosis, and many other diseases. The aim of this work was to find electro-physiological cues for differentiation. The study was based on the investigation of...Visual disorders may occur in Neuroborreliosis, Multiple Sclerosis, and many other diseases. The aim of this work was to find electro-physiological cues for differentiation. The study was based on the investigation of 178 patients presenting visual disorders. Out of them 57 were affected by Neuroborreliosis （demonstrated by positive serologic investigation： Western Blot and immuno-assay）. The electro-physiological research consisted in Electroencephalography （EEG） Mapping and average Visual Evoked Potentials （VEPs） investigation. Characteristic for the Lyme disease was the non-homogenous slowing of the cortical electrical activity, associated with signs of excessive cortical excitability to flash stimulation. In Multiple Sclerosis （MS） there were no similar changes, but signs of sub-cortical white matter lesions. Primary cortical VEP components were significantly attenuated in amplitude in the Lyme disease and delayed in MS. Magnetic Resonance Imaging （MRI） showed the presence of not differentiated ＂demyelization lesions＂ in all these cases. The electro-physiologic investigation confirms the existence of cerebral （cortical） dysfunction in subjects serologically confirmed with Borrelia infection. It may be used in time for the follow up of the Lyme disease patients.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Lyme neuroborreliosis (LNB) in children is a challenging diagnosis based on clinical manifestations and laboratory findings. The aim of this study was to investigate whether herpes simplex virus (HSV) 1 or 2, varicella zoster virus (VZV), enterovirus or tick-borne encephalitis virus (TBEV) could be identified in cerebrospinal fluid (CSF) or serum from children being evaluated for LNB, in order to elucidate whether such infectious diseases may be missed by the clinician. Methods: Ninety-nine pediatric patients (n = 99) were retrospectively included from a previous study on LNB in southeast of Sweden. They had been diagnosed as “Possible LNB” or “Not determined” due to negative Borrelia antibody index in CSF. Routine polymerase chain reaction (PCR) methods were used for detection of herpes viral RNA or enteroviral DNA in CSF. An ELISA assay was used for detection of anti-TBEV antibodies (IgM and IgG) in serum. Results: One patient showed elevated anti-TBEV IgM and IgG antibodies in serum, indicating a current TBE infection. No positive PCR reactions for HSV 1 or 2, VZV or enterovirus were detected in CSF from any of the patients. In conclusion, our results suggest that undiagnosed herpes- or enteroviral infections are unlikely to explain CNS symptoms in children being evaluated for LNB, whereas missed TBE infections may occur. TBEV serology should be included when evaluating children for LNB in TBE endemic areas.
文摘Visual disorders may occur in Neuroborreliosis, Multiple Sclerosis, and many other diseases. The aim of this work was to find electro-physiological cues for differentiation. The study was based on the investigation of 178 patients presenting visual disorders. Out of them 57 were affected by Neuroborreliosis （demonstrated by positive serologic investigation： Western Blot and immuno-assay）. The electro-physiological research consisted in Electroencephalography （EEG） Mapping and average Visual Evoked Potentials （VEPs） investigation. Characteristic for the Lyme disease was the non-homogenous slowing of the cortical electrical activity, associated with signs of excessive cortical excitability to flash stimulation. In Multiple Sclerosis （MS） there were no similar changes, but signs of sub-cortical white matter lesions. Primary cortical VEP components were significantly attenuated in amplitude in the Lyme disease and delayed in MS. Magnetic Resonance Imaging （MRI） showed the presence of not differentiated ＂demyelization lesions＂ in all these cases. The electro-physiologic investigation confirms the existence of cerebral （cortical） dysfunction in subjects serologically confirmed with Borrelia infection. It may be used in time for the follow up of the Lyme disease patients.
