OBJECTIVE： Polymyositis （PM） mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in rare cases with both PM and myasthenia gravis （MG）. Thus, the results of laboratory examina...OBJECTIVE： Polymyositis （PM） mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in rare cases with both PM and myasthenia gravis （MG）. Thus, the results of laboratory examinations in such a patient deserve to be reported. METHODS： To analyze the clinical, imaging and pathology datas on a 65-year-old woman patient with PM with complex symptoms, who presented mainly ophthalmoplegia. The patient consented to all examinations and the hospital Ethics Committee approved the study. The laboratory examinations included creatine kinase （CK）, ENA, tumor marker, function of thyroid, cranial MRI, and electromyogram （EMG）. Biopsy of the left quadriceps femoris was performed, frozen specimens were stained with hematoxylin and eosin, ATPase, NADH tetrazolium reductase, periodic acid Schiff, oil red O, modified Gomory trichrome and MHC-I, to investigate the pathology of muscle fibers RESULTS： Laboratory results showed： CK, 108.32μ kat/L; antinuclear antibody： （＋）; ENA, （-）; tumor marker, （-）; normal thyroid function, MRI showed no abnormal signals in brain and extraocular muscles. Electromyography of the bilateral deltoid, biceps brachii, musculus quadriceps fexoris, anterior tibialis showed fibrillation potentials, positive potentials and short-duration, small-amplitude polyphasic potentials on voluntary movements with a full interference pattern on mild exertion. Repetitive stimulation did not result in any increment or decrement in these potentials. A muscle biopsy of the left quadriceps femoris showed many small round muscle fibers without peripheral bundle distribution and apparent myofiber degeneration, necrosis and phagocytosis. There were several focal lymphocyte infiltrations. MHC-I immunohistochemical staining was positive in most fibers revealing inflammatory infiltration of normal fibers with MHC-I expression. CONCLUSION： This patient showed increased CK, typical triad of myopathy in EMG, and apparent degeneration and necrosis in biopsy of quadriceps femoris. Therefore, the diagnosis of PM and involvement of extraocular muscles were definite.展开更多
Dear Editor, A-72-year-old male with medical history of hypertension admitted with acute onset double vision.On neurological examination,right eye could not adduct whereas nystagmus occurs on the left eye abduction.Cr...Dear Editor, A-72-year-old male with medical history of hypertension admitted with acute onset double vision.On neurological examination,right eye could not adduct whereas nystagmus occurs on the left eye abduction.Cranial diffusion weighted imaging (DWI) was in normal ranges.Based on the negative DWI result and atypical clinical presentation for stroke,third nerve paly was considered in the forefront and the patient was planned to be discharged with suggestion of ophthalmology outpatient visit.However,following neurology evaluation,the diagnosis of left internuclear ophthalmoplegia (INO) was favored.展开更多
BACKGROUND We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia,cervical dyskinesia,and lower limb weakness by comparing the p...BACKGROUND We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia,cervical dyskinesia,and lower limb weakness by comparing the patient’s clinical features with previously reported data on adjacent copy number variation(CNV)regions.CASE SUMMARY Specifically,we first performed whole-exome sequencing,CNV-sequencing,and mitochondrial genome sequencing on the patient and his parents,then applied“MitoExome”(the entire mitochondrial genome and exons of nuclear genes encoding the mitochondrial proteome)analysis to screen for genetic mitochondrial diseases.We identified a de novo 7.23 Mb deletion,covering 16p13.2p12.3,by both whole-exome sequencing and CNV sequencing.We also detected 16p13.11 in the deleted region,which is the recurrent distinct region associated with neurodevelopmental disorder.However,the patient only displayed features of progressive total ophthalmoplegia,cervical dyskinesia,and weakness in his lower limbs without neurodevelopmental disorder.The“MitoExome”sequencing was negative.Brain magnetic resonance imaging revealed non-specific sporadic changes in the occipital parietal lobe and basal ganglia.CONCLUSION Taken together,these results indicated that 16p13.2p12.3 deletion causes a syndrome with the phenotype of early-onset total ophthalmoplegia.The“MitoExome”analysis is powerful for the differential diagnosis of mitochondrial diseases.We report a novel copy number variant in this case,but further confirmation is required.展开更多
Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. Th...Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. The aim of this work was to measure and evaluate changes in the macular retinal thickness and optic nerve head in patients with CPEO using spectral-domain optical coherence tomography and to compare the findings with those of healthy individuals. Methods: Totally, 18 CPEO patients were enrolled in this study. Healthy volunteers matched for gender, age, and diopter settings were included as a control group. The retinal thickness of macular central fovea, inner and outer retinal layer thickness of perifoveal macular, optic nerve head parameters, and peripapillay retinal nerve fiber layer thickness (pRNFLT) for all included cases were measured using spectral-domain optical coherence tomography. A paired t test was used to compare the differences in the studied parameters between the two groups. The correlations between macular retinal thickness, pRNFLT, disease duration, and age of onset were also analyzed. Results: Among the macular parameters, retinal thickness of macular central fovea (t=—2.135, P < 0.05) and outer retinal layer thickness (t =—1.994, P < 0.05) of patients in the CPEO group were statistically significant lower than those of patients in the normal control group. For the optic nerve head parameters, the patients in the CPEO group showed a larger rim volume (t =—2.499, P < 0.05) and nerve head volume (t =—2.103, P < 0.05). The overall pRNFLT of patients in the CPEO group was statistically significant lower than that of patients in the control group (t =—4.125, P < 0.05). The comparison of pRNFLT in eight sectors showed that the pRNFLT of patients in the CPEO group was statistically significant lower than that of the control group mainly in the inferior and temporal sectors. The degree of pRNFL defect negatively correlated with the disease duration (r =—0.583, P < 0.05). Conclusions: The retinal thickness of patients with CPEO was significantly thinner, which was mostly the outer retina. The patients, optic discs had a low volume and the loss of the retinal nerve fiber layer was obvious. With the extension of the disease duration, the retinal nerve fiber layer defect was even more significant.展开更多
Internuclear ophthalmoplegia(INO)is caused by a lesion in the medial longitudinal fasciculus.Patients with INO are usually asymptomatic but may have diplopia and oscillopsia.The most common causes of INO are ischemia ...Internuclear ophthalmoplegia(INO)is caused by a lesion in the medial longitudinal fasciculus.Patients with INO are usually asymptomatic but may have diplopia and oscillopsia.The most common causes of INO are ischemia and demyelination.Occurrence of INO due to infectious etiologies like tuberculosis,AIDS,brucellosis,cysticercosis and syphilis is well known.However,clinical presentation of INO associated with herpes zoster is very rare.The possible pathogenic mechanism for varicella zoster virus(VZV)induced INO could be demyelination or microinfarction in the brainstem.In the present study,a case of 56 years old male with double vision,with a recent history of herpes zoster,has been reported.Clinical examination revealed right INO.VZV IgM antibodies were positive and patient recovered fully after treatment with acyclovir and steroids.展开更多
文摘OBJECTIVE： Polymyositis （PM） mainly involves proximal limb and trunk muscles. Ocular muscles are not affected, except in rare cases with both PM and myasthenia gravis （MG）. Thus, the results of laboratory examinations in such a patient deserve to be reported. METHODS： To analyze the clinical, imaging and pathology datas on a 65-year-old woman patient with PM with complex symptoms, who presented mainly ophthalmoplegia. The patient consented to all examinations and the hospital Ethics Committee approved the study. The laboratory examinations included creatine kinase （CK）, ENA, tumor marker, function of thyroid, cranial MRI, and electromyogram （EMG）. Biopsy of the left quadriceps femoris was performed, frozen specimens were stained with hematoxylin and eosin, ATPase, NADH tetrazolium reductase, periodic acid Schiff, oil red O, modified Gomory trichrome and MHC-I, to investigate the pathology of muscle fibers RESULTS： Laboratory results showed： CK, 108.32μ kat/L; antinuclear antibody： （＋）; ENA, （-）; tumor marker, （-）; normal thyroid function, MRI showed no abnormal signals in brain and extraocular muscles. Electromyography of the bilateral deltoid, biceps brachii, musculus quadriceps fexoris, anterior tibialis showed fibrillation potentials, positive potentials and short-duration, small-amplitude polyphasic potentials on voluntary movements with a full interference pattern on mild exertion. Repetitive stimulation did not result in any increment or decrement in these potentials. A muscle biopsy of the left quadriceps femoris showed many small round muscle fibers without peripheral bundle distribution and apparent myofiber degeneration, necrosis and phagocytosis. There were several focal lymphocyte infiltrations. MHC-I immunohistochemical staining was positive in most fibers revealing inflammatory infiltration of normal fibers with MHC-I expression. CONCLUSION： This patient showed increased CK, typical triad of myopathy in EMG, and apparent degeneration and necrosis in biopsy of quadriceps femoris. Therefore, the diagnosis of PM and involvement of extraocular muscles were definite.
文摘Dear Editor, A-72-year-old male with medical history of hypertension admitted with acute onset double vision.On neurological examination,right eye could not adduct whereas nystagmus occurs on the left eye abduction.Cranial diffusion weighted imaging (DWI) was in normal ranges.Based on the negative DWI result and atypical clinical presentation for stroke,third nerve paly was considered in the forefront and the patient was planned to be discharged with suggestion of ophthalmology outpatient visit.However,following neurology evaluation,the diagnosis of left internuclear ophthalmoplegia (INO) was favored.
文摘BACKGROUND We explored the genotype-phenotype correlation of the novel deletion 16p13.2p12.3 in an 8-year-old child with progressive total ophthalmoplegia,cervical dyskinesia,and lower limb weakness by comparing the patient’s clinical features with previously reported data on adjacent copy number variation(CNV)regions.CASE SUMMARY Specifically,we first performed whole-exome sequencing,CNV-sequencing,and mitochondrial genome sequencing on the patient and his parents,then applied“MitoExome”(the entire mitochondrial genome and exons of nuclear genes encoding the mitochondrial proteome)analysis to screen for genetic mitochondrial diseases.We identified a de novo 7.23 Mb deletion,covering 16p13.2p12.3,by both whole-exome sequencing and CNV sequencing.We also detected 16p13.11 in the deleted region,which is the recurrent distinct region associated with neurodevelopmental disorder.However,the patient only displayed features of progressive total ophthalmoplegia,cervical dyskinesia,and weakness in his lower limbs without neurodevelopmental disorder.The“MitoExome”sequencing was negative.Brain magnetic resonance imaging revealed non-specific sporadic changes in the occipital parietal lobe and basal ganglia.CONCLUSION Taken together,these results indicated that 16p13.2p12.3 deletion causes a syndrome with the phenotype of early-onset total ophthalmoplegia.The“MitoExome”analysis is powerful for the differential diagnosis of mitochondrial diseases.We report a novel copy number variant in this case,but further confirmation is required.
文摘Background: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. The aim of this work was to measure and evaluate changes in the macular retinal thickness and optic nerve head in patients with CPEO using spectral-domain optical coherence tomography and to compare the findings with those of healthy individuals. Methods: Totally, 18 CPEO patients were enrolled in this study. Healthy volunteers matched for gender, age, and diopter settings were included as a control group. The retinal thickness of macular central fovea, inner and outer retinal layer thickness of perifoveal macular, optic nerve head parameters, and peripapillay retinal nerve fiber layer thickness (pRNFLT) for all included cases were measured using spectral-domain optical coherence tomography. A paired t test was used to compare the differences in the studied parameters between the two groups. The correlations between macular retinal thickness, pRNFLT, disease duration, and age of onset were also analyzed. Results: Among the macular parameters, retinal thickness of macular central fovea (t=—2.135, P < 0.05) and outer retinal layer thickness (t =—1.994, P < 0.05) of patients in the CPEO group were statistically significant lower than those of patients in the normal control group. For the optic nerve head parameters, the patients in the CPEO group showed a larger rim volume (t =—2.499, P < 0.05) and nerve head volume (t =—2.103, P < 0.05). The overall pRNFLT of patients in the CPEO group was statistically significant lower than that of patients in the control group (t =—4.125, P < 0.05). The comparison of pRNFLT in eight sectors showed that the pRNFLT of patients in the CPEO group was statistically significant lower than that of the control group mainly in the inferior and temporal sectors. The degree of pRNFL defect negatively correlated with the disease duration (r =—0.583, P < 0.05). Conclusions: The retinal thickness of patients with CPEO was significantly thinner, which was mostly the outer retina. The patients, optic discs had a low volume and the loss of the retinal nerve fiber layer was obvious. With the extension of the disease duration, the retinal nerve fiber layer defect was even more significant.
文摘Internuclear ophthalmoplegia(INO)is caused by a lesion in the medial longitudinal fasciculus.Patients with INO are usually asymptomatic but may have diplopia and oscillopsia.The most common causes of INO are ischemia and demyelination.Occurrence of INO due to infectious etiologies like tuberculosis,AIDS,brucellosis,cysticercosis and syphilis is well known.However,clinical presentation of INO associated with herpes zoster is very rare.The possible pathogenic mechanism for varicella zoster virus(VZV)induced INO could be demyelination or microinfarction in the brainstem.In the present study,a case of 56 years old male with double vision,with a recent history of herpes zoster,has been reported.Clinical examination revealed right INO.VZV IgM antibodies were positive and patient recovered fully after treatment with acyclovir and steroids.
