Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report
Abstract Background Leber’s hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-ocular manifestations such as cardiac conduction abno...
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| Format: | Article |
| Language: | English |
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BMC
2022-12-01
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| Series: | BMC Neurology |
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| Online Access: | https://doi.org/10.1186/s12883-022-03007-3 |
| _version_ | 1811291564287197184 |
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| author | Mika H. Martikainen Miika Suomela Kari Majamaa |
| author_facet | Mika H. Martikainen Miika Suomela Kari Majamaa |
| author_sort | Mika H. Martikainen |
| collection | DOAJ |
| description | Abstract Background Leber’s hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-ocular manifestations such as cardiac conduction abnormalities and neurological manifestations such as multiple sclerosis (MS) like disease or parkinsonism are encountered in some patients. Abnormal findings in spinal cord MR imaging or in the cerebrospinal fluid (CSF) have been observed in previous cases of LHON-associated myelopathy. Case presentation We report a male patient with LHON who developed symptoms of myelopathy including gait unsteadiness, enhanced deep tendon reflexes and sensory loss of the lower extremities. Imaging of the brain and spinal cord, CSF analysis, as well as neurography and electromyography did not disclose any abnormalities. The somatosensory evoked potential (SEP) findings were suggestive of dorsal column dysfunction. Conclusions The patient case demonstrates that myelopathy associated with LHON can present without abnormal findings in central nervous system MR imaging or in the CSF, and without evidence suggestive of multiple sclerosis or MS-like disease. The dorsal column seems to be particularly vulnerable to myelopathy changes in LHON. Evoked potential investigations may assist in confirming the diagnosis, when clinical features are in line with myelopathy but findings in CSF analysis and central nervous system imaging are normal. |
| first_indexed | 2024-04-13T04:31:16Z |
| format | Article |
| id | doaj.art-5a69fbe522624eadacf24a320d14e5f9 |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-04-13T04:31:16Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-5a69fbe522624eadacf24a320d14e5f92022-12-22T03:02:18ZengBMCBMC Neurology1471-23772022-12-012211410.1186/s12883-022-03007-3Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case reportMika H. Martikainen0Miika Suomela1Kari Majamaa2Clinical Neurosciences, Department of Clinical Medicine, University of TurkuDepartment of Clinical Neurophysiology, Turku University HospitalResearch Unit of Clinical Neuroscience, Neurology, University of OuluAbstract Background Leber’s hereditary optic neuropathy (LHON) is a common form of mitochondrial disease. The typical clinical presentation of LHON is subacute, painless loss of vision resulting from bilateral optic nerve atrophy. Moreover, extra-ocular manifestations such as cardiac conduction abnormalities and neurological manifestations such as multiple sclerosis (MS) like disease or parkinsonism are encountered in some patients. Abnormal findings in spinal cord MR imaging or in the cerebrospinal fluid (CSF) have been observed in previous cases of LHON-associated myelopathy. Case presentation We report a male patient with LHON who developed symptoms of myelopathy including gait unsteadiness, enhanced deep tendon reflexes and sensory loss of the lower extremities. Imaging of the brain and spinal cord, CSF analysis, as well as neurography and electromyography did not disclose any abnormalities. The somatosensory evoked potential (SEP) findings were suggestive of dorsal column dysfunction. Conclusions The patient case demonstrates that myelopathy associated with LHON can present without abnormal findings in central nervous system MR imaging or in the CSF, and without evidence suggestive of multiple sclerosis or MS-like disease. The dorsal column seems to be particularly vulnerable to myelopathy changes in LHON. Evoked potential investigations may assist in confirming the diagnosis, when clinical features are in line with myelopathy but findings in CSF analysis and central nervous system imaging are normal.https://doi.org/10.1186/s12883-022-03007-3Case reportLeber hereditary optic neuropathy (LHON)MyelopathyMitochondrial diseaseMitochondrial DNA (mtDNA)Somatosensory evoked potential (SEP) |
| spellingShingle | Mika H. Martikainen Miika Suomela Kari Majamaa Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report BMC Neurology Case report Leber hereditary optic neuropathy (LHON) Myelopathy Mitochondrial disease Mitochondrial DNA (mtDNA) Somatosensory evoked potential (SEP) |
| title | Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report |
| title_full | Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report |
| title_fullStr | Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report |
| title_full_unstemmed | Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report |
| title_short | Magnetic resonance imaging negative myelopathy in Leber’s hereditary optic neuropathy: a case report |
| title_sort | magnetic resonance imaging negative myelopathy in leber s hereditary optic neuropathy a case report |
| topic | Case report Leber hereditary optic neuropathy (LHON) Myelopathy Mitochondrial disease Mitochondrial DNA (mtDNA) Somatosensory evoked potential (SEP) |
| url | https://doi.org/10.1186/s12883-022-03007-3 |
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