Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes
Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the clinicopathological features and key points of...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Tianjin Huanhu Hospital
2018-11-01
|
| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/1869 |
| _version_ | 1818198021480906752 |
|---|---|
| author | Xiao-ling YAN Xue-bin ZHANG Shu-mei JIN Fan TANG Zhu-yu HAN |
| author_facet | Xiao-ling YAN Xue-bin ZHANG Shu-mei JIN Fan TANG Zhu-yu HAN |
| author_sort | Xiao-ling YAN |
| collection | DOAJ |
| description | Objective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the clinicopathological features and key points of diagnosis and differential diagnosis. Methods and Results A 55-year-old female presented language disorder with memory disorders for 2 months, and her head MRI showed space-occupying lesion of left temporal lobe. An exploratory craniotomy was performed. Histological morphology showed patchy grey and white matter structure, scattered hemorrhagic necrosis, small vascular hyperplasia, luminal hyperemia and vasodilatation, and scattered lymphocytic infiltration. By using immunohistochemical staining, the membrane of lymphocytes was focally positive for CD3 and CD20, and neurons were positive for neuronal nuclei (NeuN). Periodic acid-Schiff (PAS) staining was focally positive. In further musc le biopsy, modified Gomori trichrome (MGT) staining showed a lot of scattered ragged-red fibers (RRF), suggesting myopathologic change of mitochondrial encephalomyopathy. A m.3243A > G mutation (about 9%) was found in the direct sequencing genetic testing. The final diagnosis was MELAS. After operation, the patient received antiepileptic, hypoglycemic and neurotrophic treatment. Conclusions Adult-onset MELAS is a rare disease with various clinical manifestations. A definite diagnosis depends on clinical manifestations, histopathological characteristics, immunophenotype and genetic testing.
DOI: 10.3969/j.issn.1672-6731.2018.11.011 |
| first_indexed | 2024-12-12T01:59:15Z |
| format | Article |
| id | doaj.art-9040fc963b3748ba9f773e3b8d800325 |
| institution | Directory Open Access Journal |
| issn | 1672-6731 |
| language | English |
| last_indexed | 2024-12-12T01:59:15Z |
| publishDate | 2018-11-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-9040fc963b3748ba9f773e3b8d8003252022-12-22T00:42:14ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312018-11-01181181882310.3969/j.issn.1672-6731.2018.11.0111824Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodesXiao-ling YAN0Xue-bin ZHANG1Shu-mei JIN2Fan TANG3Zhu-yu HAN4Department of Pathology, Tianjin Huanhu Hospital, Tianjin 300350, ChinaDepartment of Pathology, Tianjin Huanhu Hospital, Tianjin 300350, ChinaDepartment of Pathology, Tianjin Huanhu Hospital, Tianjin 300350, ChinaDepartment of Pathology, Tianjin Huanhu Hospital, Tianjin 300350, ChinaDepartment of Pathology, Tianjin Huanhu Hospital, Tianjin 300350, ChinaObjective To study histological features, immunophenotype, genotype, diagnosis and differential diagnosis, treatment and prognosis of one case of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes (MELAS), and to summarize the clinicopathological features and key points of diagnosis and differential diagnosis. Methods and Results A 55-year-old female presented language disorder with memory disorders for 2 months, and her head MRI showed space-occupying lesion of left temporal lobe. An exploratory craniotomy was performed. Histological morphology showed patchy grey and white matter structure, scattered hemorrhagic necrosis, small vascular hyperplasia, luminal hyperemia and vasodilatation, and scattered lymphocytic infiltration. By using immunohistochemical staining, the membrane of lymphocytes was focally positive for CD3 and CD20, and neurons were positive for neuronal nuclei (NeuN). Periodic acid-Schiff (PAS) staining was focally positive. In further musc le biopsy, modified Gomori trichrome (MGT) staining showed a lot of scattered ragged-red fibers (RRF), suggesting myopathologic change of mitochondrial encephalomyopathy. A m.3243A > G mutation (about 9%) was found in the direct sequencing genetic testing. The final diagnosis was MELAS. After operation, the patient received antiepileptic, hypoglycemic and neurotrophic treatment. Conclusions Adult-onset MELAS is a rare disease with various clinical manifestations. A definite diagnosis depends on clinical manifestations, histopathological characteristics, immunophenotype and genetic testing. DOI: 10.3969/j.issn.1672-6731.2018.11.011http://www.cjcnn.org/index.php/cjcnn/article/view/1869MELAS syndromeImmunohistochemistryPathology |
| spellingShingle | Xiao-ling YAN Xue-bin ZHANG Shu-mei JIN Fan TANG Zhu-yu HAN Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes Chinese Journal of Contemporary Neurology and Neurosurgery MELAS syndrome Immunohistochemistry Pathology |
| title | Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes |
| title_full | Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes |
| title_fullStr | Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes |
| title_full_unstemmed | Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes |
| title_short | Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes |
| title_sort | mitochondrial encephalomyopathy with lactic acidemia and stroke like episodes |
| topic | MELAS syndrome Immunohistochemistry Pathology |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/1869 |
| work_keys_str_mv | AT xiaolingyan mitochondrialencephalomyopathywithlacticacidemiaandstrokelikeepisodes AT xuebinzhang mitochondrialencephalomyopathywithlacticacidemiaandstrokelikeepisodes AT shumeijin mitochondrialencephalomyopathywithlacticacidemiaandstrokelikeepisodes AT fantang mitochondrialencephalomyopathywithlacticacidemiaandstrokelikeepisodes AT zhuyuhan mitochondrialencephalomyopathywithlacticacidemiaandstrokelikeepisodes |