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

BMC Neurology

Case Report

Mika H. Martikainen¹  Miika Suomela²  Kari Majamaa³ 

[1] Clinical Neurosciences, Department of Clinical Medicine, University of Turku, Turku, Finland;Neurocenter, Turku University Hospital, Turku, Finland;Department of Neurology, Satasairaala Hospital, Pori, Finland;Department of Clinical Neurophysiology, Turku University Hospital, Turku, Finland;Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland;Neurocenter and Medical Research Center, Oulu University Hospital, Oulu, Finland;

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

DOI  :  10.1186/s12883-022-03007-3

 received in 2022-05-16, accepted in 2022-12-02,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundLeber’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 presentationWe 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.ConclusionsThe 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.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

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