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Case Reports
. 2022 Dec 15;22(1):487.
doi: 10.1186/s12883-022-03007-3.

Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report

Mika H Martikainen  1   2   3 , Miika Suomela  4 , Kari Majamaa  5   6
Affiliations
Case Reports

Magnetic resonance imaging negative myelopathy in Leber's hereditary optic neuropathy: a case report

Mika H Martikainen et al. BMC Neurol. .

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.

Keywords: Case report; Leber hereditary optic neuropathy (LHON); Mitochondrial DNA (mtDNA); Mitochondrial disease; Myelopathy; Somatosensory evoked potential (SEP).

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
MR imaging findings. MR imaging of the brain and spinal cord did not reveal findings suggestive of myelopathy or multiple sclerosis. A. brain, B. cervical spinal cord, C. thoracic spinal cord. All shown MR images are T2 weighted
Fig. 2
Fig. 2
Findings in the SEP investigation. Left panel: Median nerve SEP. N13 latencies 14.5 ms on both sides (upper bound of 97.5% confidence interval (CI); 13.1 ms (right), 12.8 ms (left). N20-latencies 20.0 ms (right) and 21.1 ms (left) (upper bound of CI; 19.2 ms (right) and 18.8 ms (left)). Right panel: Tibial nerve SEP. Normal peripheral and lumbar potentials but absent cortical potentials. SEP = sensory evoked potential
See this image and copyright information in PMC

References

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